Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Retinitis Pigmentosa 39 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613809 |
Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615990 |
Choroideremia |
|
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... |
OMIM:303100 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal... |
OMIM:608051 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigment epithelial mottling, Abnor... |
ORPHA:97341 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Retinitis Pigmentosa 57 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
Band Heterotopia |
|
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... |
OMIM:600348 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Central Areolar Choroidal Dystrophy |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular... |
ORPHA:75377 |
Leukoencephalopathy With Calcifications And Cysts |
|
Leukoencephalopathy, Spasticity, Intracerebral periventricular calcifications, Cerebral hemorrhag... |
ORPHA:542310 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Hand tremor, Periventricular leuko... |
OMIM:615889 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... |
OMIM:620315 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina... |
OMIM:613428 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli... |
ORPHA:300573 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, ... |
OMIM:604213 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:600977 |
Retinitis Pigmentosa 61 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:614180 |
Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Transient ischemic attack, Paresthesia, Cerebral ischemia, Str... |
ORPHA:36382 |
Retinitis Pigmentosa 40 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613801 |
Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... |
OMIM:610951 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... |
ORPHA:363654 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... |
OMIM:618697 |
Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Somatic sensory dysfunction, Paresthesia, Stroke, Cerebral... |
ORPHA:324703 |
Pontocerebellar Hypoplasia, Type 12 |
|
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly, Polyhy... |
OMIM:618266 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly |
OMIM:615938 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Unilateral Hemispheric Polymicrogyria |
|
Cerebral hypoplasia, Lateral ventricle dilatation, Hemiparesis, Cortical dysplasia, Thick cerebra... |
ORPHA:101071 |
Dural Sinus Malformation |
|
Myelopathy, Somatic sensory dysfunction, Abnormal facial vein morphology, Tetraparesis, Subdural ... |
ORPHA:97339 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Leukoencephalopathy, Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebra... |
ORPHA:284388 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy |
OMIM:172870 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 76 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... |
OMIM:617123 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy |
ORPHA:75373 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Ataxia, Corti... |
OMIM:618709 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Leukoencephalopathy, Spasticity, Recurrent subcortical infarcts, Hemiplegia, Transient ischemic a... |
ORPHA:136 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Lissencephaly 4 |
|
Agenesis of corpus callosum, Babinski sign, Colpocephaly, Primary microcephaly, Hypertonia, Lisse... |
OMIM:614019 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dys... |
OMIM:608133 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cor... |
ORPHA:306669 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Corticospinal tract atrophy |
OMIM:551500 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615725 |
Nystagmus 6, Congenital, X-Linked |
|
Hypopigmentation of the fundus, Retinal pigment epithelial mottling |
OMIM:300814 |
Brain Small Vessel Disease 2 |
|
Ventriculomegaly, Polymicrogyria, Hemiplegia, Porencephalic cyst, Schizencephaly, Intracranial he... |
OMIM:614483 |
Retinitis Pigmentosa 11 |
|
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Inability to walk, Seconda... |
OMIM:620317 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... |
OMIM:615937 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme... |
OMIM:613731 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Myoclonus, Stroke, Gait disturbance, Cerebral hemorrhage |
ORPHA:324708 |
Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Retinitis Pigmentosa 90 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:619007 |
Pineocytoma |
|
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251912 |
Pontocerebellar Hypoplasia, Type 1A |
|
Tongue fasciculations, Neuronal loss in basal ganglia, Cerebral cortical atrophy, Lateral ventric... |
OMIM:607596 |
Retinitis Pigmentosa 84 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:618220 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Paresthesia, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recu... |
OMIM:605714 |
Retinitis Pigmentosa 27 |
|
Peripapillary chorioretinal atrophy, Macular edema, Attenuation of retinal blood vessels, Chorior... |
OMIM:613750 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral palsy, Cerebral calcification, Hemiplegia/hemiparesis, Hydrocephalus, Ataxia |
ORPHA:99966 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Cone-Rod Dystrophy 16 |
|
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage |
OMIM:603285 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro... |
ORPHA:85128 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,... |
OMIM:613162 |
Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Ascites, Cerebral hemorrhage, Cer... |
OMIM:617397 |
Methanol Poisoning |
|
Abnormal corpus callosum morphology, Basal ganglia necrosis, Bilateral basal ganglia lesions, Inf... |
ORPHA:31825 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... |
ORPHA:500166 |
Cone-Rod Dystrophy 24 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod... |
OMIM:620342 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Spasticity, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Microcephaly, Partial... |
OMIM:619517 |
Primary Angiitis Of The Central Nervous System |
|
Abnormal CSF protein concentration, Recurrent subcortical infarcts, Cerebral vasculitis, Tetrapar... |
ORPHA:140989 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... |
ORPHA:79243 |
Masa Syndrome |
|
Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Mi... |
OMIM:303350 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Progressive spasticity, Short corpus callosum, Lateral ventricle dilatation |
OMIM:619972 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Chorioretinal degeneration, Rod-cone dystrophy |
OMIM:312612 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Corpus callos... |
OMIM:619389 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Periventricular cysts, Microcephaly, Abn... |
OMIM:617668 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia ca... |
OMIM:221770 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Subcortical cerebral atrophy, Hydroceph... |
ORPHA:2703 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abn... |
OMIM:251270 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Masa Syndrome |
|
Spastic paraplegia, Ventriculomegaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Gait d... |
ORPHA:2466 |
Martsolf Syndrome 2 |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Spastic diplegia |
OMIM:619420 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... |
ORPHA:401815 |
Stargardt Disease |
|
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... |
ORPHA:827 |
Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage |
ORPHA:98880 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypert... |
OMIM:618890 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Truncal ataxia, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventr... |
OMIM:220200 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Abno... |
OMIM:613443 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Cerebral calcification, B... |
ORPHA:73256 |
Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Inability to walk, Gait ataxia, Pleural effusion, Hypoplasia of the... |
OMIM:618606 |
Bietti Crystalline Dystrophy |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... |
ORPHA:41751 |
Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy,... |
ORPHA:599373 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Broad-based gait, Lateral ventricle dilatation, Inability to walk, Secondary microcep... |
OMIM:617854 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Tetraparesis, Inability to walk, Dysplastic corpus callosum, M... |
OMIM:618276 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Cach Syndrome |
|
Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Limb ataxia, Oligohydramnios, Dysgyri... |
ORPHA:135 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus... |
ORPHA:401820 |
Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, Corpus callosum... |
ORPHA:77299 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebral cortical atrophy, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Subdur... |
OMIM:618291 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Spasticity, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Cortica... |
OMIM:614039 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal corpus callosum morphology, Involuntary movements, Tip-toe gait, Lateral ventricle dilat... |
ORPHA:565624 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
Sneddon Syndrome |
|
Hemiplegia, Ischemic stroke, Tremor, Stroke, Impaired distal tactile sensation, Cerebral hemorrha... |
OMIM:182410 |
Achromatopsia |
|
Inner retinal layer loss on macular OCT, Retinal pigment epithelial mottling, Abnormal macular mo... |
ORPHA:49382 |
Alg2-Cdg |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... |
ORPHA:79326 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy |
OMIM:619090 |
Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Lissencephaly 3 |
|
Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of corpus callosum,... |
OMIM:611603 |
Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... |
ORPHA:169805 |
Newfoundland Rod-Cone Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal dystrophy |
OMIM:607476 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage, Cerebral calcification |
OMIM:116860 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr... |
ORPHA:98878 |
Fibronectin Glomerulopathy |
|
Hypertension, Pedal edema, Cerebral hemorrhage |
ORPHA:84090 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Leber Congenital Amaurosis 8 |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... |
OMIM:613835 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:616816 |
Periventricular Nodular Heterotopia 1 |
|
Hypoplasia of the corpus callosum, Stroke, Cerebral hemorrhage, Thin corpus callosum, Patent duct... |
OMIM:300049 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612572 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Focal polymicrogyria, Dysgenesis of the basal ganglia, Dilated fourth ventricle, Primary microcep... |
OMIM:615771 |
Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Action myoclonus, Frequent... |
OMIM:616540 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Myoclonus, Hypoplasia of the corpus callosum, Cerebral white matter... |
ORPHA:284417 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Spastic paraplegia, Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral... |
OMIM:617296 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Lateral ventricle dilatation, Poor fine motor coordination |
OMIM:618330 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... |
ORPHA:506353 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... |
OMIM:204100 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
Cone-Rod Dystrophy 3 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Schizencephaly |
|
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum |
OMIM:269160 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:616108 |
Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Oligohydramnios, Microcephaly, Li... |
OMIM:614219 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, C... |
OMIM:620371 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, Myoclonus, Opisthoton... |
OMIM:619847 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Cerebral atrophy, Tetraparesis, Periventri... |
ORPHA:255182 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... |
ORPHA:331 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Age... |
OMIM:610245 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... |
ORPHA:90065 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum |
ORPHA:171703 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Lateral ventricle dilatation, Inability to walk, Microcephaly, Thin corpus... |
OMIM:615716 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Lymphedema, Inability to walk, Abnormal ... |
ORPHA:2822 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Ventriculomegaly, Edema, Agenesis of corpus callosum |
OMIM:616570 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Periventricular white matter hyperintensities, Tremor, Microcephaly, Hydrocepha... |
OMIM:619470 |
Pontocerebellar Hypoplasia, Type 15 |
|
Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Partial agenesis of the corpus callosum, ... |
OMIM:619302 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy, Dehydration |
ORPHA:79159 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Spasticity, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the co... |
OMIM:615599 |
Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Spasticity, Lateral ventricle dilatation, Hypoplasia of the c... |
ORPHA:208447 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Cerebral palsy, Secondary microce... |
ORPHA:2148 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Oculomotor apraxia, Ataxia, Thin ... |
OMIM:608629 |
Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Ventriculomegaly, T2 hypointense basal ganglia, Open operculum, Subdural... |
ORPHA:25 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
Retinitis Pigmentosa 77 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... |
OMIM:617304 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Ga... |
ORPHA:488627 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callos... |
ORPHA:401830 |
Lissencephaly Due To Tuba1A Mutation |
|
Spasticity, Ventriculomegaly, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ven... |
ORPHA:171680 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... |
OMIM:608716 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Retinitis Pigmentosa 83 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous floaters, Cystoid macular edema... |
OMIM:618173 |
Alg13-Cdg |
|
Clumsiness, Abnormal lateral ventricle morphology |
ORPHA:324422 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Rod-c... |
OMIM:312600 |
Hydrocephalus, Congenital, X-Linked |
|
Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi... |
OMIM:307000 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation |
OMIM:617967 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Spasticity, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Par... |
OMIM:304100 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... |
OMIM:618736 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Pseu... |
ORPHA:449285 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Gait ataxia, Dysmetria, Agenesis of corpus callosum, Clumsiness, Babinski sign, Oculomotor apraxi... |
ORPHA:453521 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:613810 |
Pontocerebellar Hypoplasia, Type 14 |
|
Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Spastic tetraplegia, Simplified gyral pat... |
OMIM:619301 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Retinitis Pigmentosa 10 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Reduced cerebral white matter volume, Inability to walk, Secondary microcephaly, Hypoplasia of th... |
OMIM:618174 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral calcification, Cerebral amyloid angiopathy |
ORPHA:100006 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage, Aplasia/Hypoplasia of the cor... |
ORPHA:401986 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Calcification of falx cerebr... |
OMIM:177850 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Subependymal cysts, Multifoca... |
OMIM:600721 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation |
OMIM:602200 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Coarctation of aorta, Hypertension, Dehydration |
OMIM:616069 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy |
ORPHA:1897 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Hemiplegia, Cerebral calcification, Hemiparesis, ... |
ORPHA:624 |
Retinitis Pigmentosa 25 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Leukoencephalopathy, Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Cerebral atr... |
ORPHA:572798 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spasticity, Lateral ventricle dilatation, Polymicrogyria, Inability to walk, Type II lissencephal... |
ORPHA:300570 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce... |
ORPHA:280679 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Impaired pain sensation, ... |
ORPHA:99947 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Ventriculomegaly, Basal ganglia calcification, Agenesis of corpus callosum, Diffuse cerebral atro... |
OMIM:214150 |
Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Spina bifida occulta, Da... |
OMIM:616602 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... |
OMIM:145350 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Ventriculomegaly, Cerebral atrophy, Incoordination, Increased CSF lactate, Increased ... |
OMIM:616034 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis, Dehydration |
ORPHA:27 |
Developmental And Epileptic Encephalopathy 36 |
|
Abnormal bleeding, Cerebral atrophy, Abnormality of extrapyramidal motor function, Microcephaly, ... |
OMIM:300884 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasia of the corpus call... |
ORPHA:488635 |
Cone-Rod Dystrophy 8 |
|
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Abnormali... |
OMIM:605549 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration |
OMIM:251850 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc... |
ORPHA:2182 |
Lissencephaly 5 |
|
Leukoencephalopathy, Spastic paraplegia, Occipital encephalocele, Type II lissencephaly, Hypoplas... |
OMIM:615191 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Spasticity, Dilated third ventricle, Dilation of Virchow-Robin spaces, Lateral ventricle dilatati... |
ORPHA:544488 |
Alexander Disease |
|
Increased CSF protein concentration, Spasticity, Dysmetria, Babinski sign, Hydrocephalus, Ataxia,... |
OMIM:203450 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Bradycardia, Decreased CSF gluta... |
OMIM:610015 |
Aicardi-Goutieres Syndrome 9 |
|
Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Ascites, Basal ganglia calcification,... |
OMIM:619487 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
Focal Facial Dermal Dysplasia Type Iv |
|
Microcephaly, Intracranial hemorrhage, Hydrocephalus, Hemiparesis |
ORPHA:398189 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Spastic paraplegia, Lateral ventricle dilatation, Distal sensory impairment, Abnormal pyramidal s... |
OMIM:256850 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc drusen |
OMIM:204000 |
Congenital Hydrocephalus |
|
Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Colpocephaly, Hydrocephalus,... |
ORPHA:2185 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:300029 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Stroke, Cardiomyopathy, Choreoathetosis, Dehydration |
ORPHA:79312 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
Slc35A2-Cdg |
|
Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Tetralogy of Fallot, Hypoplasi... |
ORPHA:356961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
Alexander Disease Type I |
|
Spasticity, Focal T2 hyperintense basal ganglia lesion, Abnormal pyramidal sign, Abnormal cerebra... |
ORPHA:363717 |
Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Episodic ataxia |
ORPHA:420179 |
Fried Syndrome |
|
Cerebral calcification, Gait disturbance, Hydrocephalus, Spastic diplegia |
ORPHA:85335 |
Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... |
ORPHA:169802 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Abnormal bleeding, Cerebral atrophy, Congestive heart failure, Increased CSF lactate,... |
OMIM:616271 |
Sneddon Syndrome |
|
Chorea, Arterial stenosis, Tremor, Hemiparesis, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Pyruvate Carboxylase Deficiency |
|
Ventriculomegaly, Tip-toe gait, Increased CSF citrulline concentration, Subependymal cysts, Incre... |
ORPHA:3008 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Lateral ventricle dilatation, Polymicrogyria, Dilated fourth ventricle, Hypoplasia of the corpus ... |
OMIM:617751 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Dextrotransposition of the great arteries, Ankle clonus, Frequent f... |
OMIM:619995 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Narp Syndrome |
|
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Ro... |
ORPHA:644 |
Jalili Syndrome |
|
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... |
OMIM:217080 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Spasticity, Lateral ventricle dilatation, Dilated fourth ventricle, Myoclonus, Microcephaly, Hype... |
ORPHA:3078 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
Glutaric Acidemia I |
|
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Choreoathetosis, Spastic dip... |
OMIM:231670 |
Superficial Siderosis |
|
Arteriovenous malformation, Abnormal pyramidal sign, Ataxia, Unsteady gait, Abnormal cerebrospina... |
ORPHA:247245 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... |
OMIM:619244 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, Septo-optic dysp... |
ORPHA:1528 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... |
OMIM:600132 |
Methylmalonic Acidemia With Homocystinuria |
|
Microcephaly, Gait disturbance, Hydrocephalus |
ORPHA:26 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:1466 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Dehydration, Edema |
ORPHA:103910 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
Cone-Rod Dystrophy 10 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the ... |
OMIM:604360 |
Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Combined Malonic And Methylmalonic Acidemia |
|
Microcephaly, Dehydration |
ORPHA:289504 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Macular degeneration, Retinop... |
ORPHA:816 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cerebral atrophy, Small basal gan... |
OMIM:616900 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Ventriculomegaly, Polymicrogyria, Akinesia, Agenesis of corpus callosum, Microce... |
OMIM:225790 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Cerebral palsy, Petechiae,... |
ORPHA:853 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1390 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Galloway-Mowat Syndrome 5 |
|
Spasticity, Ventriculomegaly, Periventricular leukomalacia, Primary microcephaly, Ataxia, Pachygy... |
OMIM:617731 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Impaired pain sensation, Ataxia |
ORPHA:1532 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:264470 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Microcephaly, Dehydration |
OMIM:618958 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Cerebral palsy, Hypoplasia of the corpus callosum, Hypertonia, Pulm... |
OMIM:618914 |
Retinitis Pigmentosa 72 |
|
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... |
OMIM:616469 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... |
ORPHA:79434 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Hydrocephalus, Hypertonia |
ORPHA:250994 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Microcephaly, Lateral ventricle dilatation |
OMIM:619278 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Agenesis of corpus callosum, Hemiparesis, Hydrocephalus, Unsteady gait, Abnormality of the anteri... |
OMIM:617542 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Spasticity, Abnormal bleeding, Inability to walk, Secondary microcephaly, Dilated fourth ventricl... |
ORPHA:357058 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:614105 |
Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
Cog5-Cdg |
|
Lateral ventricle dilatation, Oligohydramnios, Diffuse cerebral atrophy, Cerebral white matter at... |
ORPHA:263487 |
Pontocerebellar Hypoplasia Type 2 |
|
Spasticity, Abnormal cortical gyration, Ventriculomegaly, Upper limb hypertonia, Hypoplasia of th... |
ORPHA:2524 |
Retinitis Pigmentosa 60 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:613983 |
Enteric Anendocrinosis |
|
Portal hypertension, Dehydration |
ORPHA:83620 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Dysgyria, Abnormal cerebral white matter morpholo... |
ORPHA:352682 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Propionic Acidemia |
|
Cerebral atrophy, Cardiomyopathy, Cerebellar hemorrhage, Limb hypertonia, Dehydration |
OMIM:606054 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ventriculomegaly, Dilated cardiomyopathy, Polymicrogyria, Intracerebral periventricular calcifica... |
OMIM:608836 |
Cerebral Visual Impairment |
|
Focal cortical dysplasia, Cerebral palsy, Ischemic stroke, Clumsiness, Microcephaly, Oculomotor a... |
ORPHA:447788 |
Papillary Tumor Of The Pineal Region |
|
Difficulty walking, Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251915 |
Frontal Encephalocele |
|
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... |
ORPHA:1931 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Focal cortical dysplasia, Cardiomyopathy, Inability to walk, Hypoplasia of the corpus callosum, M... |
OMIM:613155 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Retinitis Pigmentosa 75 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:617023 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Va... |
OMIM:220220 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Ventriculomegaly, Microcephaly, Intraventricular hemorrhage, Hydrocephalus, Polyhydramnios, Megal... |
OMIM:613603 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Dysplastic corpus callosum, Microc... |
OMIM:619955 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... |
OMIM:300845 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Lateral ventricle dilatation, Cavum septum pellucidum, Abnor... |
ORPHA:457279 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
X-Linked Intellectual Disability, Wilson Type |
|
Microcephaly, Lateral ventricle dilatation |
ORPHA:85290 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Neurofibrillary tangles, Lewy bodies, Ap... |
OMIM:607485 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Reduced cerebral white matter volume, Lateral ventricle dilatation, Thin corpus callosum, Parieta... |
OMIM:620075 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Oligohydramnios, Periventricular leukomalacia, Abnormal caudate nuc... |
ORPHA:293725 |
Familial Cold Urticaria |
|
Dysesthesia, Dehydration |
ORPHA:47045 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida |
ORPHA:945 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... |
ORPHA:52427 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Type II lissencephaly, Agenesis of corpus callosum, Abnormal cerebral white mat... |
OMIM:613153 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:614120 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Lateral ventricle dilatation, Tricuspid regurgitation, Probst bundles, Agenesis of corpus callosu... |
OMIM:612863 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... |
ORPHA:364055 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum, Oligohydramnios, Hypertrophic cardiomyopathy |
OMIM:620135 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:141 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Hydranencephaly |
|
Cerebral cortical atrophy, Ventriculomegaly, Abnormal corpus striatum morphology, Dilatation of t... |
ORPHA:2177 |
Den Hoed-De Boer-Voisin Syndrome |
|
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Secondary microcep... |
OMIM:619229 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Pachygyria, Colpocephaly |
OMIM:614870 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Aicardi-Goutieres Syndrome 4 |
|
Spasticity, Ventriculomegaly, Cerebral atrophy, Cerebral calcification, CSF lymphocytic pleiocyto... |
OMIM:610333 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep... |
OMIM:617547 |
Cone-Rod Dystrophy 2 |
|
Chorioretinal atrophy, Macular hyperpigmentation, Cone/cone-rod dystrophy, Bone spicule pigmentat... |
OMIM:120970 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Babinski sign, Microcephaly, Spastic tetraplegia, Cerebral dysmyelina... |
OMIM:252650 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Spasticity, Dehydration |
OMIM:251120 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... |
OMIM:610655 |
Factor Vii Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:227500 |
Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum |
ORPHA:502430 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Secondary microcephaly, Periventricular white matter hyperintensiti... |
OMIM:619737 |
Reticular Dysgenesis |
|
Dehydration |
ORPHA:33355 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Oligohydramnios, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Perica... |
ORPHA:163596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... |
OMIM:613154 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Nasu-Hakola Disease |
|
Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Cerebral calcification, Chorea, Oculomot... |
ORPHA:2770 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Choroidal Atrophy-Alopecia Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigmentation |
ORPHA:1433 |
Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Ascites, Cerebral calcification, Microcephaly, Hydrocephalus |
ORPHA:858 |
Pseudo-Torch Syndrome 3 |
|
Abnormal cerebral white matter morphology, Cerebral calcification, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Myoclonus, Dehydration, Ataxia |
OMIM:560000 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Leukoencephalopathy, Poor fine motor coordination, Pulmonary embolism, Subdural hemorrhage, Dilat... |
ORPHA:79282 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Difficulty w... |
ORPHA:464738 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Juvenile Paget Disease |
|
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation |
ORPHA:2801 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Abnormal globus pallidus morphology, Cerebellar hemorrhage, Cardiomyopathy, Dehydration |
OMIM:251000 |
Familial Congenital Mirror Movements |
|
Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,... |
ORPHA:238722 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Cocaine Intoxication |
|
Involuntary movements, Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS... |
ORPHA:90068 |
Distal Deletion 10Q |
|
Spasticity, Lateral ventricle dilatation, Cavum septum pellucidum, Microcephaly, Oculomotor aprax... |
ORPHA:96148 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation, Dehy... |
OMIM:212140 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Opisthotonus, Hydrocephalus, ... |
OMIM:207950 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus callosum, Type II liss... |
ORPHA:272 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co... |
OMIM:300952 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Inability to walk, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:616362 |
Joubert Syndrome 14 |
|
Encephalocele, Hypoplasia of the corpus callosum, Hydrocephalus, Meningocele, Ataxia, Intracrania... |
OMIM:614424 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Bruising susceptibility, Lateral ventricle dilatation, Hypertrophic cardiom... |
OMIM:619745 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ventriculomegaly, Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomal... |
ORPHA:255138 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
Night Blindness, Congenital Stationary, Type 1B |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:257270 |
Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla... |
OMIM:620156 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Ventriculomegaly, Intraventricular hemorrhage, Cerebral atrophy |
OMIM:616430 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:618577 |
Hellp Syndrome |
|
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged... |
ORPHA:244242 |
Infantile Sialic Acid Storage Disease |
|
Cerebral atrophy, Congestive heart failure, Ascites, Hydrocephalus, Hydrops fetalis |
OMIM:269920 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... |
OMIM:187300 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Dilated third ventricle, Open operculum, L... |
ORPHA:397715 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Secondary microcephaly, Increased CSF la... |
ORPHA:500144 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormal chorioretinal m... |
ORPHA:5 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Polymicrogyria, Increased nuchal translucency, Agenesis of corpus c... |
ORPHA:1692 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation, Megalencephaly, Polymicrogyria |
ORPHA:83473 |
Developmental And Epileptic Encephalopathy 31B |
|
Involuntary movements, Reduced cerebral white matter volume, Ventriculomegaly, Secondary microcep... |
OMIM:620352 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy |
ORPHA:370968 |
Beta-Ketothiolase Deficiency |
|
Spasticity, Hypotension, Edema, Extrapyramidal dyskinesia, Ataxia, Hypertension, Dehydration |
ORPHA:134 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Dehydration |
OMIM:620125 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukoencephalopathy, Spasticity, Hypotension, Dilated cardiomyopathy, Dehydration, Myoclonus, Spa... |
ORPHA:20 |
Chromosome 16Q12 Duplication Syndrome |
|
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, T... |
OMIM:619649 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ventriculomegaly, Cerebral palsy, Periventricular leukomalacia, Microcephaly, Colpocephaly, Hydro... |
OMIM:619833 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:609033 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Myoclonus, Dys... |
OMIM:617281 |
Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Hemiparesis, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation |
ORPHA:2481 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Orthostatic hypotension, Dehydration |
OMIM:610600 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Leukoencephalopathy, Spasticity, Facial paralysis, Dilation of Virchow-Robin spaces, Focal cortic... |
OMIM:175780 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... |
OMIM:600376 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Increased CSF lactate, Myoclonus, Microcephaly, Intraventricular hemorrhage, Clonus, Prolonged pr... |
OMIM:619055 |
Cystinosis |
|
Portal hypertension, Abnormal pyramidal sign, Gait disturbance, Dehydration |
ORPHA:213 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Brain atrophy |
OMIM:619059 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy |
OMIM:268020 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation |
ORPHA:3085 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Dehydration |
OMIM:203400 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Dehydration |
OMIM:264350 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Spasticity, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly... |
OMIM:614833 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ... |
OMIM:218350 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Hydrocephalus, Megalencephaly, Thick corpus callosum |
OMIM:248000 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Po... |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Microcephaly, Periventricular leukomalacia, Hydrocephalus |
OMIM:618302 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Spastic tetraplegia, Congestive heart failure |
OMIM:300886 |
Alternating Hemiplegia Of Childhood |
|
Episodic hemiplegia, Tetraparesis, Cardiomyopathy, Abnormal T-wave, Chorea, Cardiac conduction ab... |
ORPHA:2131 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Cerebral hemo... |
OMIM:620300 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Arteriovenous malformation, Chylothorax, Abnormal bleeding, Lymphedema, Congestive hea... |
ORPHA:137667 |
Cone-Rod Dystrophy 6 |
|
Attenuation of retinal blood vessels, Chorioretinal atrophy, Cone/cone-rod dystrophy, Bone spicul... |
OMIM:601777 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks |
ORPHA:100996 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Hydrops fetalis, Hypertonia |
ORPHA:85212 |
Bainbridge-Ropers Syndrome |
|
Lateral ventricle dilatation, Inability to walk, Hypoplasia of the corpus callosum, Microcephaly,... |
OMIM:615485 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Orthostatic hypotension, Dehydration |
ORPHA:556030 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration |
OMIM:602199 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Patent ductus arteriosus, Hypoplasia of the corpus callosum |
ORPHA:1516 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Oligohydramnios, Agenesis of corpus callosum |
OMIM:616854 |
Harlequin Ichthyosis |
|
Sudden cardiac death, Dehydration |
ORPHA:457 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Spasticity, Ventriculomegaly, Cerebral atrophy, Abnormal per... |
OMIM:272200 |
Weaver Syndrome |
|
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Absent septum pellucidum, Hypertonia,... |
OMIM:277590 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Megalencephaly |
OMIM:602501 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Spasticity, Oligohydramnios, Increased nuchal translucency, Fetal intraventricular hemorrhage, Li... |
OMIM:618480 |
Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... |
ORPHA:774 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Thin corpus callosum, Hydrocephalus, Cerebral atrophy |
OMIM:616521 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Dehydration, Oligohydramnios, Microcephaly, Lissencephaly |
OMIM:208085 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, Lymphedema |
ORPHA:3226 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Vascular ring, Polymicrogyria, Mitral regurgitation, Hypoplasia of the corpus c... |
OMIM:603387 |
Thanatophoric Dysplasia Type 2 |
|
Ventriculomegaly, Increased nuchal translucency, Encephalocele, Hydrocephalus, Polyhydramnios, Ho... |
ORPHA:93274 |
Medulloblastoma |
|
Dysmetria, Cerebellar hemorrhage, Hydrocephalus, Ataxia, Cerebellar ataxia associated with quadru... |
ORPHA:616 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:615986 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:2518 |
L1 Syndrome |
|
Spasticity, Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Dehydration |
OMIM:177735 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Congenital Sialidosis Type 2 |
|
Spasticity, Cherry red spot of the macula, Ascites, Abnormal EKG, Myoclonus, Petechiae, Dysmetria... |
ORPHA:93400 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:252011 |
Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Lateral ventricle dilatation, Tip-toe gait, Tremor, Cortical ... |
OMIM:617557 |
Tempi Syndrome |
|
Ascites, Intracranial hemorrhage, Telangiectasia, Transudative pleural effusion |
ORPHA:284227 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... |
OMIM:616959 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cerebral cortical atrophy, Spasticity, Lateral ventricle dilatation, Secondary microcephaly, Abse... |
OMIM:300868 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Abnormality of retinal pigmentation |
ORPHA:290 |
Riddle Syndrome |
|
Poor hand-eye coordination, Telangiectasia, Clumsiness, Conjunctival telangiectasia, Gait disturb... |
ORPHA:420741 |
Vascular Hyalinosis |
|
Hematochezia, Cerebral calcification, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Wolcott-Rallison Syndrome |
|
Difficulty walking, Ascites, Microcephaly, Double outlet right ventricle, Dehydration |
ORPHA:1667 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus, Microcephaly, Abnormal cerebral white matter morphology, Cardiac arrest, D... |
OMIM:246450 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Microcephaly, Progressive microcephaly, Lateral ventricle dilatation, Cerebral atrophy |
OMIM:611209 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ventriculomegaly, Spastic paraparesis, Abnormal periventricular white matter morphology, Hemipare... |
ORPHA:395 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Chylothorax, Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Zika Virus Disease |
|
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... |
ORPHA:448237 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Spasticity, Ventriculomegaly, Difficulty walking, Cerebral calcification, Rigidity, Agenesis of c... |
OMIM:618476 |
Pontocerebellar Hypoplasia, Type 7 |
|
Tongue fasciculations, Spasticity, Spastic paraplegia, Ventriculomegaly, Cerebral atrophy, Myoclo... |
OMIM:614969 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy |
OMIM:613156 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hemiplegia, Gait disturbance, Hydrocephalus |
ORPHA:2181 |
Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Tetraparesis, Inability to walk, Paresthesia, Encephalocele, Di... |
ORPHA:2356 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Opisthotonus, Microcephaly, Hypertonia, Polyhydramnios, Spastic tet... |
OMIM:614098 |
Chromosome Xp11.3 Deletion Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:300578 |
Krabbe Disease |
|
Increased CSF protein concentration, Diffuse cerebral atrophy, Hydrocephalus, Hypertonia, Decereb... |
OMIM:245200 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Retinitis Pigmentosa |
|
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... |
ORPHA:791 |
Arthrogryposis, Distal, Type 5 |
|
Retinal fold, Abnormality of retinal pigmentation |
OMIM:108145 |
Williams-Beuren Region Duplication Syndrome |
|
Ventriculomegaly, Speech apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Hydrocepha... |
OMIM:609757 |
Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Dysplastic corpus callosum, Microcephaly, Increased CSF lactate, Hypertonia |
OMIM:604273 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Retinal degeneration, Optic disc pa... |
ORPHA:79264 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:216866 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Hypoplasia of the corpus callosum... |
OMIM:619179 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Arrhythmia, Dehydration |
ORPHA:171876 |
Leigh Syndrome, Nuclear |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Edema, Bruising susceptibility, Intracranial hemorrhage, ... |
ORPHA:324636 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Communi... |
OMIM:615219 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Gait disturbance, Hydrocephalus, Hypertonia, Meningocele, Holoprosencephaly |
ORPHA:588 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Peripheral pulmonary artery stenosis, Dilated third ventricle, Lateral ventricle di... |
OMIM:619575 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebral palsy, Appendicular spasticity, Dysplastic corpus callosum, Microcephaly, Simplified gyr... |
OMIM:620001 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Spastic paraplegia, Epistaxis, Second degree atrioventricular block, Cerebral palsy, Pulmonary ar... |
ORPHA:369929 |
Cerebrofacioarticular Syndrome |
|
Ventriculomegaly, Lymphedema, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys... |
ORPHA:314679 |
Menkes Disease |
|
Babinski sign, Intracranial hemorrhage, Microcephaly, Hypertonia |
OMIM:309400 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Polyhydramnios, Spasticity, Dysplastic corpus callosum, Hypertrophic cardiomyopathy |
OMIM:618810 |
Pettigrew Syndrome |
|
Spasticity, Ventriculomegaly, Basal ganglia calcification, Cerebral calcification, Gait ataxia, M... |
OMIM:304340 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cerebral atrophy, Abnormal septum pellucidum morphology, Hydrocephalus, Hypertonia, Spastic tetra... |
ORPHA:171839 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Microvillus Inclusion Disease |
|
Dehydration, Hypovolemia |
ORPHA:2290 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Microcephaly, Colpocephaly, Polymicrogyria |
OMIM:618731 |
Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... |
ORPHA:494424 |
Thanatophoric Dysplasia |
|
Ventriculomegaly, Increased nuchal translucency, Hydrocephalus, Polyhydramnios, Patent ductus art... |
ORPHA:2655 |
Choreoacanthocytosis |
|
Resting tremor, Lateral ventricle dilatation, Loss of ambulation, Parkinsonism, Frontal cortical ... |
ORPHA:2388 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:268315 |
Vici Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Abnormal macular morpholo... |
ORPHA:1493 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... |
OMIM:171300 |
Trisomy 1Q |
|
Ventriculomegaly, Increased nuchal translucency, Agenesis of corpus callosum, Hydrocephalus, Poly... |
ORPHA:261344 |
Osteootohepatoenteric Syndrome |
|
Hydrocephalus, Dehydration |
OMIM:619377 |
Griscelli Syndrome |
|
Spasticity, Ascites, Encephalocele, Hydrocephalus, Ataxia, Pedal edema |
ORPHA:381 |
Lamellar Ichthyosis |
|
Dehydration |
ORPHA:313 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... |
ORPHA:91387 |
Joubert Syndrome With Renal Defect |
|
Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apraxia, Gait dist... |
ORPHA:220497 |
Hydrolethalus |
|
Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Polyhydramnios, Anencephaly |
ORPHA:2189 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Ascites, Tetralogy of Fallot, Portal hyp... |
ORPHA:974 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Ventriculomegaly, Abnormal bleeding, Cerebral atrophy, Hypoplasia of ... |
OMIM:614576 |
Osteogenesis Imperfecta |
|
Arterial dissection, Aortic regurgitation, Ventriculomegaly, Aortic root aneurysm, Somatic sensor... |
ORPHA:666 |
Lethal Congenital Contracture Syndrome 5 |
|
Polyhydramnios, Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
Neurocardiofaciodigital Syndrome |
|
Lateral ventricle dilatation, Tetralogy of Fallot, Dilated fourth ventricle, Hypoplasia of the co... |
OMIM:619869 |
Secondary Short Bowel Syndrome |
|
Dehydration, Atherosclerosis |
ORPHA:95427 |
Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Dextrotransposition of the great arteries, Hypoplasia of the corpus callosum, A... |
OMIM:618619 |
Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage |
ORPHA:49566 |
Alkuraya-Kucinskas Syndrome |
|
Lissencephaly, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Pleural effusion, Ocu... |
OMIM:617822 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration, Bone spi... |
ORPHA:88628 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Secondary microcephaly, Oligohydramnios, Hypoplasia of the corpus callosum, Agenesis of corpus ca... |
OMIM:620113 |
Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Microcephaly, Choroid plex... |
OMIM:304050 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of r... |
ORPHA:2715 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypert... |
OMIM:618367 |
Meningioma |
|
Hemifacial spasm, Difficulty walking, Abnormal central motor function, Cerebral hemorrhage, Hemip... |
ORPHA:2495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Encephalocele, Agen... |
OMIM:253800 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Clumsiness, Microcephaly |
OMIM:300558 |
B4Galt1-Cdg |
|
Dandy-Walker malformation, Abnormal bleeding, Hydrocephalus, Edema |
ORPHA:79332 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:109120 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Cardiomyopathy, Speech apraxia, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventriculomegaly, Cardiomyopathy, Speech apraxia, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:363958 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Agenesis of corpus callosum, Microcephaly, Progressive microcephaly, Hydro... |
OMIM:615249 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Peho Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Peripheral edema, Microcephaly, Hydrocephalus, Palpe... |
ORPHA:2836 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Hydrocephalus, Ventriculomegaly, Vascular dilatation |
OMIM:219730 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Encephalocele,... |
ORPHA:1908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Type II lissencephaly, Leukoencephalopathy, Hydrocephalus, Polymicrogyria |
OMIM:615181 |
Cholera |
|
Hypovolemic shock, Hypotension, Stroke, Tachycardia, Dehydration |
ORPHA:173 |
Greig Cephalopolysyndactyly Syndrome |
|
Ventriculomegaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:175700 |
Prader-Willi Syndrome Due To Translocation |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Oligohydramnios, Microcephaly, Patent du... |
ORPHA:177907 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Patent ductus arteriosus |
ORPHA:251046 |
Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Cerebral atrophy, Oligohydramnios, Hypoplasia of the cor... |
OMIM:609029 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... |
OMIM:615994 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Ascites, Hypertrophic cardiomyop... |
OMIM:261740 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... |
ORPHA:99901 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus |
OMIM:243440 |
Tenorio Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Cerebral palsy, Clumsiness, Syncope, Gait disturbanc... |
OMIM:616260 |
Halperin-Birk Syndrome |
|
Ventriculomegaly, Semilobar holoprosencephaly, Pseudobulbar paralysis, Inability to walk, Agenesi... |
OMIM:618651 |
Netherton Syndrome |
|
Dehydration |
ORPHA:634 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Hydrops fetalis, Lateral ventricle dilatation, Pachygyria |
OMIM:263520 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebral hypoplasia, Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Te... |
OMIM:210710 |
Aspergillosis |
|
Stroke, Intracranial hemorrhage, Pleural effusion |
ORPHA:1163 |
Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Extrapyramidal muscular rigidity, Chorea, T... |
ORPHA:94093 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, Somatic sensory dysfunction, Vascular tortuosity, Abnormal bleeding, ... |
ORPHA:90307 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Oligohydramnios, Portal hypertension, Hematemesis, Hypertension, Dehydration |
OMIM:263200 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Subdural hemorrhage, Bruising susceptibility, Difficulty walking, Arterial rupture, Aortic aneury... |
ORPHA:536545 |
Joubert Syndrome With Ocular Defect |
|
Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum, Oculomotor apraxia, Gait dist... |
ORPHA:220493 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus |
ORPHA:2183 |
Thanatophoric Dysplasia Type 1 |
|
Ventriculomegaly, Increased nuchal translucency, Hydrocephalus, Polyhydramnios, Patent ductus art... |
ORPHA:1860 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Abnormal cerebral cortex morphology, Hydrocephalus, Dandy-Walker malformation |
ORPHA:163961 |
Leber Congenital Amaurosis 15 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy, Dull foveal ... |
OMIM:613843 |
Alexander Disease |
|
Spasticity, Hypotension, Chorea, Cerebral calcification, Tremor, Agenesis of corpus callosum, Hyp... |
ORPHA:58 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Clumsiness, Agenesis of corpus callosum, Noncommunicating hydrocephalus, Ataxia |
OMIM:619320 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Abnormal EKG, Syncope, Orthostatic hypotension, Dehydration |
ORPHA:230 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:31 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Hydromyelia, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Absent... |
OMIM:615287 |
Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H... |
ORPHA:31824 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Spasticity, Increased CSF protein concentration, Somatic sensory dy... |
ORPHA:139417 |
Mirage Syndrome |
|
Paraplegia, Petechiae, Hydrocephalus, Intracranial hemorrhage, Patent ductus arteriosus |
OMIM:617053 |
Desmosterolosis |
|
Lissencephaly, Spasticity, Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent s... |
ORPHA:35107 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Gait disturbance, Hydrocephalus, Polyhydramnios |
ORPHA:1812 |
Emanuel Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Cerebral atrophy, Oligohydramnios, Truncus arteriosus, A... |
ORPHA:96170 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Stroke, Focal white matter lesions |
ORPHA:557003 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hypotension, Myoclonus, Abnormal pyramidal sign, Hydrocephalus, Atax... |
ORPHA:3452 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Hec Syndrome |
|
Polyhydramnios, Arrhythmia, Communicating hydrocephalus, Cardiomyopathy |
ORPHA:2119 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:241500 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus |
OMIM:601794 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:276950 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum |
OMIM:619479 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Abnormal bleeding, Basal ganglia calcification, A... |
ORPHA:398124 |
Joubert Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Encephalocele, Tremor, Oculomotor apra... |
ORPHA:475 |
Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Gait ataxia, Hydrocephalus |
OMIM:616355 |
Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Abnormal aorti... |
ORPHA:1926 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Arteriovenous malformation, Polymicrogyria, Cerebral ischemia, Arrhythmia, Tela... |
ORPHA:60040 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration, Tremor |
OMIM:251100 |
Isolated Posterior Meningocele |
|
Hydromyelia, Difficulty walking, Paraplegia, Hydrocephalus, Hypertonia, Lipomyelomeningocele, Men... |
ORPHA:268810 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Cerebral atrophy, Oligohydramnios, Hypoplasia of the corpus callosu... |
OMIM:300896 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Alobar holoprosencephaly, Absent septum pellucidum, Microcephaly, Double outlet... |
OMIM:619895 |
Spondyloenchondrodysplasia |
|
Vasculitis, Spasticity, Ventriculomegaly, Chorea, Abnormal lateral ventricle morphology, Cerebral... |
ORPHA:1855 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Meningocele, Anenc... |
OMIM:611134 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Paresthesia, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation |
OMIM:607361 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Spasticity, Abnormal cerebral cortex morphology, Progressive ventriculomegaly, Lateral ventricle ... |
ORPHA:500150 |
Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Dehydration |
OMIM:251110 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Decreased nerve conduction velocity, F... |
OMIM:610651 |
Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Microcephaly, Abnormal cerebral white matter morphology, Hydrocephalus, Hyperte... |
ORPHA:2169 |
Dpagt1-Cdg |
|
Cerebral cortical atrophy, Anasarca, Inability to walk, Akinesia, Stroke-like episode, Tremor, Hy... |
ORPHA:86309 |
Triploidy |
|
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Polyhydramnios, Meningocele, Holoprosen... |
ORPHA:3376 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Apraxia, Dehydration, Ataxia |
ORPHA:99885 |
Lysosomal Acid Lipase Deficiency |
|
Hypotension, Ascites, Coronary artery atherosclerosis, Stroke, Pulmonary arterial hypertension, P... |
ORPHA:275761 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bruising susceptibility, Vascular tortuosity, Agenesis of corpus callosum, Microcephaly, Prominen... |
OMIM:612940 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Ventriculomegaly, Polymicrogyria, Absent septum pellucidum, Agenesis ... |
ORPHA:899 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Abnormal lymphatic vesse... |
ORPHA:464329 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Hypoplasia of the corpus callosum, Agenesis of corpus callo... |
OMIM:613001 |
Renal Hypoplasia |
|
Hypertension, Dehydration |
ORPHA:93101 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618010 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Patent ductus arteriosus, Agenesis of corpus callosum |
ORPHA:77298 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cerebral hypoplasia, Ventriculomegaly, Oligohydramnios, Agenesis of corpus callosum, Microcephaly... |
OMIM:257300 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy, Cerebral atrophy |
OMIM:222300 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Microcephaly, Gait disturbance, Hydrocephalus |
OMIM:613330 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cerebral atrophy, Microcephaly, Double outlet right ventricle, Hydrocephalus, Patent ductus arter... |
OMIM:614886 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension, Dehydration, Agenesis of corpus callosum |
ORPHA:168558 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Encephalocele, Hypoplasia of the corpus ... |
OMIM:614643 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Secondary microcephaly, Hydrocephalus, Hypertonia, Dandy-Walker malf... |
OMIM:612938 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension, Dehydration, Agenesis of corpus callosum |
ORPHA:289548 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage |
ORPHA:79284 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Spastic tetraparesis, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
OMIM:614924 |
1Q44 Microdeletion Syndrome |
|
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:238769 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Mitral stenosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... |
OMIM:617260 |
Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Periph... |
OMIM:259900 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Desmosterolosis |
|
Spasticity, Total anomalous pulmonary venous return, Ventriculomegaly, Aplasia/Hypoplasia of the ... |
OMIM:602398 |
Micro Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation, Retinal coloboma |
ORPHA:2510 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Pearson Syndrome |
|
Cardiomyopathy, Increased CSF lactate, Cardiac conduction abnormality, Microcephaly, Corneal stro... |
ORPHA:699 |
Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... |
ORPHA:99826 |
Kapur-Toriello Syndrome |
|
Polymicrogyria, Tetralogy of Fallot, Dysplastic corpus callosum, Pachygyria, Patent ductus arteri... |
ORPHA:2328 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Spasticity |
OMIM:619423 |
Hemangioblastoma |
|
Hydrocephalus, Dysesthesia |
ORPHA:252054 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Dehydration |
ORPHA:90791 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Periventricular leukomalacia, Hypoplasia of the corpus... |
ORPHA:500055 |
Glycogen Storage Disease Ii |
|
Sinus tachycardia, Difficulty walking, Dilatation of the cerebral artery, Pleural effusion, Short... |
OMIM:232300 |
Tarp Syndrome |
|
Tetralogy of Fallot, Oligohydramnios, Athetosis, Subdural hemorrhage |
OMIM:311900 |
Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Septo-optic dysplasia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:3301 |
Oligomeganephronia |
|
Hypertension, Dehydration, Pulmonary venous occlusion |
ORPHA:2260 |
Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation, Congestive heart failure, Supraventricular tachycardia, Palpebral e... |
OMIM:181270 |
Myopathy, Centronuclear, X-Linked |
|
Polyhydramnios, Hydrocephalus, Dandy-Walker malformation |
OMIM:310400 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Hemiplegia/hemipares... |
ORPHA:1647 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Lymphedema, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris,... |
ORPHA:109 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Pigmentary retinopathy, Optic atrophy |
OMIM:617282 |
Shigellosis |
|
Myocarditis, Hypovolemic shock, Purpura, Dehydration |
ORPHA:810 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Hypertonia |
ORPHA:1895 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Microcephaly, Cerebral hemorrhage, Unsteady gait, Patent ductus arteriosus |
OMIM:616682 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... |
ORPHA:1969 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech... |
ORPHA:340 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Oculomotor apraxia, Hydrocephalus |
OMIM:615630 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Leukoencephalopathy, Cerebral cortical atrophy, Dilated cardiomyopathy, Aortic root aneurysm, Lat... |
OMIM:607872 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Hydrocephalus, Dandy-W... |
OMIM:220210 |
Pallister-Hall-Like Syndrome |
|
Microcephaly, Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Retinal hemorrhage, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Ascites... |
ORPHA:99827 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tetralogy of Fallot, Agenesis of corpus callosum, Telangiectasia, Hydrocephalus, Patent ductus ar... |
OMIM:612582 |
Amelocerebrohypohidrotic Syndrome |
|
Spasticity, Hydrocephalus |
ORPHA:1946 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Generalized edema, Spasticity, Bidirectional shunt, Pulmonary artery dilata... |
OMIM:619534 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum |
ORPHA:459061 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the ... |
OMIM:216550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Ventriculomegaly, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus callosum, Hydr... |
OMIM:616538 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Ventriculomegaly, Cardiomyopathy, Polymicrogyria, Intracerebral periventricular calcifications, C... |
ORPHA:228308 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Patent ductus arteriosus, Left-to-right shunt |
ORPHA:363444 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... |
ORPHA:85167 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Isolated Exencephaly |
|
Polyhydramnios, Hypoplasia of the frontal bone, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:563612 |
Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
Tetrasomy 5P |
|
Congestive heart failure, Pericallosal lipoma, Pulmonary arterial hypertension, Hydrocephalus, He... |
ORPHA:3309 |
Fanconi Anemia, Complementation Group I |
|
Microcephaly, Colpocephaly, Absent septum pellucidum, Agenesis of corpus callosum |
OMIM:609053 |
Helsmoortel-Van Der Aa Syndrome |
|
Heart murmur, Mitral regurgitation, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:615873 |
Rhombencephalosynapsis |
|
Ventriculomegaly, Septo-optic dysplasia, Hydrocephalus, Ataxia |
ORPHA:59315 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration |
OMIM:304800 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary v... |
ORPHA:2184 |
Bartter Syndrome, Type 3 |
|
Hypotension, Dehydration |
OMIM:607364 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Ventriculomegaly, Polymicrogyria, Occipital meningocele, Hypoplasia of the corpus callosum, Hydro... |
OMIM:616546 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... |
ORPHA:906 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Polymicrogyria, Cerebral calcification, Abnormal basal ganglia morphology, Agenes... |
ORPHA:157 |
Metatropic Dysplasia |
|
Hydrocephalus |
ORPHA:2635 |
Osteopetrosis, Autosomal Recessive 5 |
|
Diffuse white matter abnormalities, Ventriculomegaly, Cerebral atrophy, Ascites, Microcephaly, Li... |
OMIM:259720 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Spasticity, Spontaneous hematomas, Chorea, Arterial stenosis, Venous... |
ORPHA:565 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pulmonary embolism, Somatic sensory dysfunction, Angioedema, Congestive h... |
ORPHA:3260 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Persistent left superior vena cava, Transposition of the great arteries, Hydrocep... |
OMIM:314390 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Ataxia |
ORPHA:2318 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Hydrocephalus, Temporal lobe dysplasia |
OMIM:187600 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
Temple Syndrome |
|
Hydrocephalus |
ORPHA:254516 |
Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
Acute Liver Failure |
|
Pain insensitivity, Gastrointestinal hemorrhage, Hypotension, Abnormal bleeding, Bruising suscept... |
ORPHA:90062 |
Stormorken Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage |
OMIM:185070 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Hypoplasia of the corpus callosum, Pulmonary arterial hypertension, Hyd... |
OMIM:616482 |
Infantile Nephropathic Cystinosis |
|
Abnormal cerebral white matter morphology, Dehydration |
ORPHA:411629 |
Cockayne Syndrome Type 3 |
|
Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural... |
ORPHA:90324 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Focal polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum, Hy... |
OMIM:612651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Microcephaly... |
OMIM:613150 |
Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Hydrops fetalis, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Chorioreti... |
OMIM:618733 |
Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Aplasia/Hypoplasia of the corpus callosum, Portal hypertension, Tremor, ... |
ORPHA:1454 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Dandy-Walker malformation |
OMIM:614846 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Polymicrogyria, Tricuspid regurgitation, Heart murmur, Mitral regurgitation... |
OMIM:614866 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia |
OMIM:214110 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Coarctation of aorta, Hydrocephalus, Patent ... |
OMIM:300514 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... |
ORPHA:394 |
Usher Syndrome |
|
Cerebral cortical atrophy, Abnormality of retinal pigmentation |
ORPHA:886 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Pseudotrisomy 13 Syndrome |
|
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Microcephaly, Coarctation of aorta, H... |
OMIM:264480 |
Lowry-Maclean Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Hemiparesis, Microcephaly, Coarctation of aorta, Hydro... |
ORPHA:2409 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Microcephaly, Hydrocephalus, Heart murmur, Intracranial hemorrhage, Pate... |
ORPHA:163979 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... |
OMIM:619103 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia, Polyhydramnios, Frequent fal... |
OMIM:620351 |
Sturge-Weber Syndrome |
|
Cerebral cortical atrophy, Pulmonary embolism, Abnormal cerebral vascular morphology, Cerebral ca... |
ORPHA:3205 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Hydroce... |
OMIM:613686 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema |
OMIM:256500 |
Joubert Syndrome 2 |
|
Abnormal corpus callosum morphology, Enlarged fossa interpeduncularis, Encephalocele, Oculomotor ... |
OMIM:608091 |
Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Absent septum pellucidum, Histiocytoid cardiomyopathy, Agenesis o... |
OMIM:309801 |
Monosomy 18Q |
|
Aortic valve stenosis, Diffuse white matter abnormalities, Congestive heart failure, Mitral regur... |
ORPHA:1600 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spastic paraplegia, Hypoglycorrhachia, Intracerebral periventricular calcifications, Microcephaly... |
ORPHA:168577 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios, Hypovolemia |
ORPHA:223 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypertension, Myocardial infarction, Dehydration |
ORPHA:90038 |
Axial Mesodermal Dysplasia Spectrum |
|
Cerebral cortical atrophy, Oligohydramnios, Hydrocephalus |
ORPHA:1834 |
Oculocerebrorenal Syndrome Of Lowe |
|
Ventriculomegaly, Clonus, Joint swelling, Dehydration |
ORPHA:534 |
16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Dilated cardiomyopathy, Mitral regurgitation, Hypoplasia of the corpus callosum... |
ORPHA:261250 |
Trisomy 17P |
|
Aortic valve stenosis, Microcephaly, Hydrocephalus, Hypertonia, Patent ductus arteriosus |
ORPHA:261290 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Pallidal degeneration, Retinal fle... |
ORPHA:157850 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Microcephaly, Hydrocephalus, Ataxia, Arteriosclerosis |
ORPHA:220295 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t... |
OMIM:236670 |
Cole-Carpenter Syndrome 2 |
|
Oligohydramnios, Hydrocephalus |
OMIM:616294 |
Bresek Syndrome |
|
Microcephaly, Hydrocephalus |
ORPHA:85284 |
Fg Syndrome Type 1 |
|
Ventriculomegaly, Broad-based gait, Aplasia/Hypoplasia of the corpus callosum, Coarctation of aor... |
ORPHA:93932 |
Lhermitte-Duclos Disease |
|
Polymicrogyria, Hydrocephalus, Ataxia |
ORPHA:65285 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:217090 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Pigmentary retinopathy |
ORPHA:436271 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Bruising susceptibility, Oligohydramnios, Hydrocephalus, Hypertension, Late... |
OMIM:616914 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Oligohydramnios, Hydrocephalus |
ORPHA:3016 |
Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Abnormal inferior vena cava morphology, Persistent left superior vena cava, Tra... |
ORPHA:244 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Microcephaly, Spasticity, Hypoplasia of the corpus callosum |
OMIM:618569 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Patent ductus arteriosus, Dehydration |
ORPHA:96191 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hydrocephalus, Microcephaly, Hydrops fetalis, Encephalocele |
ORPHA:1865 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Spasticity, Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Right bundle bran... |
OMIM:618590 |
Werner Syndrome |
|
White forelock, Abnormality of retinal pigmentation, Premature graying of hair |
ORPHA:902 |
Distal Renal Tubular Acidosis |
|
Paralysis, Dehydration |
ORPHA:18 |
Temple Syndrome |
|
Hydrocephalus |
OMIM:616222 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Dehydration |
OMIM:557000 |
Coffin-Lowry Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy |
ORPHA:192 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
3C Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Tetralogy of Fallot, Hydrocephalus, Dandy-Walker malform... |
ORPHA:7 |
Gracile Bone Dysplasia |
|
Ascites, Hydrocephalus |
OMIM:602361 |
Iniencephaly |
|
Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, P... |
ORPHA:63259 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
Basal Cell Nevus Syndrome 2 |
|
Calcification of falx cerebri, Hydrocephalus |
OMIM:620343 |
Apert Syndrome |
|
Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Hypertension |
ORPHA:87 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of skin ... |
ORPHA:193 |
Chromosome 17P13.1 Deletion Syndrome |
|
Oligohydramnios, Ankle clonus, Diffuse cerebral atrophy, Microcephaly, Hydrocephalus, Spina bifida |
OMIM:613776 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Pigmentary retinopathy, Vitiligo, Perifoveal ring of hyperautofluorescence |
OMIM:240300 |
Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... |
OMIM:301043 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Hemiplegia, Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:96180 |
Juvenile Nephropathic Cystinosis |
|
Dehydration, Hypovolemia |
ORPHA:411634 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Cardiofaciocutaneous Syndrome 1 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Hypertrophic cardiomyopathy... |
OMIM:115150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:220110 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Hypertonia, Ataxia |
ORPHA:2720 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Abnormal corpus callosum morphology, Spasticity, Broad-based gait, Impaire... |
ORPHA:261537 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Microcephaly, Coarctation of aorta, Lateral ventricle dilatation |
OMIM:147920 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Spasticity, Broad-based gait, Hypoplastic anterior commissure, Lateral ven... |
ORPHA:261552 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Low-to-normal blood pressure, Paresthesia, Dehydration |
OMIM:601678 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Clumsiness, Dehydration |
ORPHA:89938 |
Neurooculorenal Syndrome |
|
Ventriculomegaly, Polymicrogyria, Tetralogy of Fallot with pulmonary stenosis, Agenesis of corpus... |
OMIM:620305 |
Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Hydrocephalus, Nonimmune hydrops fetalis |
OMIM:617667 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Microcephaly, Subdural hemorrhage, Hypertonia, Cavum septum pellucidum |
OMIM:619714 |
Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Conot... |
ORPHA:2306 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... |
ORPHA:363618 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Dehydration, Edema, Bradycardia |
ORPHA:79404 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida, Waddling gait |
ORPHA:2839 |
Aicardi Syndrome |
|
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... |
ORPHA:50 |
Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, He... |
ORPHA:790 |
Short-Rib Thoracic Dysplasia 12 |
|
Ascites, Hydrocephalus, Polyhydramnios, Holoprosencephaly, Anencephaly, Patent ductus arteriosus,... |
OMIM:269860 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Abnormal optic nerve morphology, Retinopathy, Abnormality of retinal pigmentation,... |
ORPHA:2526 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Hy... |
ORPHA:538 |
Albers-Schönberg Osteopetrosis |
|
Hydrocephalus |
ORPHA:53 |
Rabin-Pappas Syndrome |
|
Microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Retinal telangiectasia |
OMIM:620155 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Hydrocephalus |
OMIM:619951 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Cerebral cortical atrophy, Athetosis, Hydrocephalus |
OMIM:239300 |
1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Patent ductus ... |
ORPHA:250989 |
Achondroplasia |
|
Hydrocephalus, Wide anterior fontanel |
ORPHA:15 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Low-to-normal blood pressure, Paresthesia, Dehydration |
OMIM:241200 |
Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Microc... |
OMIM:618460 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spastic paraplegia, Broad-based gait, Ventriculomegaly, Limb ataxia, Calcification of the aorta, ... |
ORPHA:2072 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Communicating hydrocephalus, Transposition of the great arteries, Agenesis o... |
ORPHA:1780 |
Vipoma |
|
Ascites, Dehydration |
ORPHA:97282 |
Hyperparathyroidism, Transient Neonatal |
|
Ventriculomegaly, Stroke, Polyhydramnios, Communicating hydrocephalus, Patent ductus arteriosus |
OMIM:618188 |
Microsporidiosis |
|
Myocarditis, Dehydration |
ORPHA:2552 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Aqued... |
OMIM:619512 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hydrocephalus, ... |
ORPHA:457284 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus |
ORPHA:1237 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cerebral cortical atrophy, Pigmentary retinopathy, Optic disc pallor, Brushfield spots, Patent du... |
OMIM:214100 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Ventriculomegaly, Hypertension, Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Pigmentary retinopathy, Abnormality of peripheral nerve conduction, Absent brainst... |
ORPHA:90321 |
6Q Terminal Deletion Syndrome |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Gait ataxia, Hypoplasia of the corpus callos... |
ORPHA:75857 |
Witteveen-Kolk Syndrome |
|
Poor motor coordination, Ventriculomegaly, Hypoplasia of the corpus callosum, Dysplastic corpus c... |
OMIM:613406 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus |
OMIM:617866 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cerebral atrophy, Communicating hydrocephalus, Cardiomyopathy, Ataxia |
OMIM:616084 |
Congenital Syphilis |
|
Petechiae, Hydrocephalus, Myocarditis, Hydrops fetalis, Purpura, CSF pleocytosis |
ORPHA:499009 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Abnormality of retinal pigmentation... |
ORPHA:466768 |
15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Agenesis of corpus callosum, Pulmonary arterial hy... |
ORPHA:314585 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Hydrocephalus, Polyhydram... |
ORPHA:2166 |
Cystinosis, Nephropathic |
|
Cerebral atrophy, Cerebral calcification, Dehydration |
OMIM:219800 |
Osteopetrosis, Autosomal Recessive 2 |
|
Facial paralysis, Hydrocephalus |
OMIM:259710 |
Fanconi Anemia, Complementation Group R |
|
Microcephaly, Hydrocephalus |
OMIM:617244 |
Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Cerebellar atrophy, Spotty hyperpigmentation... |
ORPHA:167 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Functioning Gonadotropic Adenoma |
|
Ascites, Hydrocephalus |
ORPHA:91348 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Ventriculomegaly, Prominent scalp veins, Agenesis of corpus callosum, ... |
OMIM:151050 |
Achondroplasia |
|
Polyhydramnios, Hydrocephalus, Megalencephaly |
OMIM:100800 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Patent ductus arteriosus, Brain atrophy, Abnormality of retinal pigmentation |
ORPHA:505248 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cerebral cortical atrophy, Hypotension, Tremor, Abnormality of extrapyramidal motor function, Mic... |
OMIM:277400 |
Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Melena, Hypertension, Dehydration |
ORPHA:652 |
Bardet-Biedl Syndrome 1 |
|
Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Retinal degeneration, ... |
OMIM:209900 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Spasticity, Broad-based gait, Progressive spastic quadriplegia, Isometric tremor, Clonus, Tortico... |
OMIM:619475 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Spasticity, Hydrocephalus, Wide anterior fontanel |
OMIM:305450 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Hydrocephalus, Venous insufficiency |
ORPHA:2969 |
Meckel Syndrome, Type 1 |
|
Cerebral hypoplasia, Ventriculomegaly, Occipital encephalocele, Dilated fourth ventricle, Oligohy... |
OMIM:249000 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... |
OMIM:618820 |
Marshall-Smith Syndrome |
|
Ventriculomegaly, Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, ... |
OMIM:602535 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pain insensitivity, Cerebral cortical atrophy, Distal sensory impairment, Telangiectasia of the s... |
OMIM:616007 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... |
OMIM:610828 |
Proximal Renal Tubular Acidosis |
|
Dehydration, Hypovolemia |
ORPHA:47159 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degenerat... |
OMIM:234200 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Bruising susceptibility, Oligohydramnios, Stroke, Hydrocephalus, Torticolli... |
ORPHA:536467 |
Cardiofaciocutaneous Syndrome |
|
Cerebral cortical atrophy, Lymphedema, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:1340 |
Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Bilateral superior vena cava, Myelomeningocele, Dextrotr... |
OMIM:306955 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Carotid artery occlusion, Shuffling gait, Aortic regurgitation, Atheroscle... |
ORPHA:740 |
Mend Syndrome |
|
Aortic valve stenosis, Hypoplasia of the corpus callosum, Limb hypertonia, Hydrocephalus, Wide an... |
ORPHA:401973 |
Aymé-Gripp Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Hydrocephalus, Pe... |
ORPHA:1272 |
Osteopathia Striata With Cranial Sclerosis |
|
Oligohydramnios, Hydrocephalus, Polyhydramnios, Spina bifida occulta, Partial agenesis of the cor... |
OMIM:300373 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Spasticity, Atrioventricular block, Ventriculomegaly, Reduced left ventricula... |
ORPHA:581 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Hurler Syndrome |
|
Spastic paraparesis, Cardiomyopathy, Cerebral palsy, Angina pectoris, Abnormal pyramidal sign, Hy... |
ORPHA:93473 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Inability to walk, Microcephaly, Colpocephaly, Ataxia |
OMIM:620083 |
Apert Syndrome |
|
Ventriculomegaly, Absent septum pellucidum, Agenesis of corpus callosum, Overriding aorta, Hydroc... |
OMIM:101200 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypoplasia of the corpus callosum, Colpocephaly, Oculomotor apraxia, Clonus, Cerebral white matte... |
ORPHA:477993 |
Distal Triplication 15Q |
|
Hydrocephalus, Hypoplastic aortic arch, Patent ductus arteriosus, Dandy-Walker malformation |
ORPHA:314588 |
Mucopolysaccharidosis, Type Vii |
|
Hydrops fetalis, Hydrocephalus, Cardiomyopathy |
OMIM:253220 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Cerebral atrophy, Myelomeningocele, Agenesis of corpus callosum, Micr... |
OMIM:311200 |
Holoprosencephaly |
|
Spasticity, Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Tetralogy of Fallot, Ch... |
ORPHA:2162 |
Osteopetrosis, Autosomal Recessive 1 |
|
Facial paralysis, Hydrocephalus |
OMIM:259700 |
Coccidioidomycosis |
|
Vasculitis, Increased CSF protein concentration, Vasospasm, Hypoglycorrhachia, Exudative pleural ... |
ORPHA:228123 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebral cortical atrophy, Ventriculomegaly, Gait ataxia, Thick corpus callosum, Communicating hy... |
OMIM:617011 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Stromme Syndrome |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:243605 |
Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Wide anterior fontanel |
OMIM:207410 |
Pentalogy Of Cantrell |
|
Tetralogy of Fallot, Hydrocephalus, Anencephaly, Encephalocele |
ORPHA:1335 |
Zttk Syndrome |
|
Aortic regurgitation, Spasticity, Ventriculomegaly, Periventricular leukomalacia, Hypoplasia of t... |
OMIM:617140 |
Mucopolysaccharidosis Type 1 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Paresthesia, Hemiplegia/hemiparesis, Hydro... |
ORPHA:579 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypotension, Dehydration, Hypovolemia |
ORPHA:90794 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Transposition of the great arteries, Patent ductus arteriosus, Anencephaly |
OMIM:313850 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Ventriculomegaly, Dysmetria, Aortic aneurysm, Hydrocephalus, Unsteady gait... |
ORPHA:96121 |
Fanconi Anemia, Complementation Group D2 |
|
Bruising susceptibility, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcep... |
OMIM:227646 |
Genitopalatocardiac Syndrome |
|
Microcephaly, Hydrocephalus |
ORPHA:2075 |
Cockayne Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Cerebellar atrophy, Cereb... |
ORPHA:191 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Microcephaly, Aortic aneurysm, Hydrocephalus, Wide anterior fontanel |
OMIM:182212 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
H Syndrome |
|
Upper eyelid edema, Facial telangiectasia, Abnormal cardiovascular system physiology, Hydrocephal... |
ORPHA:168569 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, Meningocele |
OMIM:130720 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Holoprosenceph... |
OMIM:610829 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnormal vitreous humor morpholo... |
ORPHA:2556 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Hydrocephalus, Encephalocele |
OMIM:224400 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormality of retinal pigmentat... |
ORPHA:580 |
Dextrocardia |
|
T-wave inversion, Abnormal EKG, Hydrocephalus, Congenital malformation of the great arteries |
ORPHA:1666 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Hypopigmentation of the fundus, Rod-cone dystrophy |
ORPHA:14 |
Melas |
|
Optic atrophy, Pigmentary retinopathy, Cerebral cortical atrophy, Vitiligo, Brain atrophy |
ORPHA:550 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Hydrocephalus |
OMIM:601499 |
Gaucher Disease |
|
Gingival bleeding, Ventriculomegaly, Abnormal bleeding, Cherry red spot of the macula, Tremor, Ab... |
ORPHA:355 |
Cockayne Syndrome A |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, R... |
OMIM:216400 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Encephalocele, Microcephaly, Hydrocep... |
ORPHA:564 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Left ventricular noncompaction cardiomyopathy, Tremor, Dysplastic corpus callosum... |
OMIM:300967 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Laurin-Sandrow Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2378 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Diffuse white matter abnormalities, Cerebral cortical atrophy, Ventriculomegaly, Difficulty walki... |
ORPHA:457359 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Cryptococcosis |
|
Hydrocephalus, Cerebral edema, Pleural effusion, Cerebral cortical atrophy |
ORPHA:1546 |
Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:255210 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Abnormality of retinal pigmentation |
ORPHA:175 |
Smith-Lemli-Opitz Syndrome |
|
Hypertrophic cardiomyopathy, Hypoplasia of the corpus callosum, Hypoplasia of the frontal lobes, ... |
OMIM:270400 |
Cerebrooculonasal Syndrome |
|
Ventriculomegaly, Encephalocele, Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker m... |
OMIM:605627 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Agenesis of corpus callosum, Microceph... |
ORPHA:264450 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension, Hydrocephalus |
ORPHA:1555 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration, Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling |
OMIM:251260 |
47,Xyy Syndrome |
|
Hydrocephalus |
ORPHA:8 |
Yunis-Varon Syndrome |
|
Cardiomyopathy, Pachygyria, Tetralogy of Fallot, Increased nuchal translucency, Renal artery sten... |
ORPHA:3472 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling |
OMIM:607459 |
Crouzon Syndrome |
|
Hydrocephalus |
OMIM:123500 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Sinus tachycardia, Cardiomyopathy, Tricuspid regurgitation, Mitral regurgita... |
OMIM:253200 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Cone/cone-rod dystro... |
ORPHA:404454 |
Alobar Holoprosencephaly |
|
Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Spasticity, Inability to walk, Abnormal central motor function, Agenesis of corpus callosum, Micr... |
ORPHA:220386 |
Hurler Syndrome |
|
Aortic regurgitation, Hydrocephalus, Mitral regurgitation, Cardiomyopathy |
OMIM:607014 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Hydrocephalus, Spina bifida occulta, Wid... |
ORPHA:235 |
Viss Syndrome |
|
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... |
OMIM:619472 |
Costello Syndrome |
|
Ventriculomegaly, Cerebral atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Hydrocephalus, Lymph... |
OMIM:218040 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor... |
ORPHA:217085 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Hydrocephalus, Bruising susceptibility, Patent ductus arteriosus |
OMIM:618162 |
22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Tetralogy of F... |
ORPHA:567 |
Gaucher Disease, Type Iiic |
|
Hydrocephalus, Calcification of the aorta, Mitral stenosis |
OMIM:231005 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinopathy, Papilledema, Abnormal foveal mor... |
ORPHA:217093 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Oligohydramnios, Communicating hydrocephalus, Agenesis of corpus callosum, Microcephal... |
OMIM:619841 |
Fanconi Anemia |
|
Ventriculomegaly, Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, O... |
ORPHA:84 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Pseudobulbar paralysis, Tricuspid regurgitation, Speech apraxia, Hypoplasia of the corpus callosu... |
ORPHA:466791 |
Orofaciodigital Syndrome Ii |
|
Porencephalic cyst, Hydrocephalus |
OMIM:252100 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
Neurofibromatosis Type 1 |
|
Inguinal freckling, Hypopigmented skin patches, Chorioretinal coloboma, Melanocytic nevus, Genera... |
ORPHA:636 |
Alstrom Syndrome |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy |
OMIM:203800 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Spastic paraplegia, Cerebral cortical atrophy, Mitral regurgitation, Clumsi... |
ORPHA:309282 |
Icf Syndrome |
|
Communicating hydrocephalus |
ORPHA:2268 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm, Hydrocephalus |
OMIM:245600 |
Loeys-Dietz Syndrome 2 |
|
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... |
OMIM:610168 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Patent ductus arteriosus |
OMIM:104350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Spasticity, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the co... |
OMIM:253280 |
Monosomy 9Q22.3 |
|
Ventriculomegaly, Calcification of falx cerebri, Hydrocephalus |
ORPHA:77301 |
Jacobsen Syndrome |
|
Microcephaly, Spasticity, Holoprosencephaly, Hydrocephalus |
OMIM:147791 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat... |
ORPHA:91500 |
Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Oligohydramnios, Hypoplasia of the corpus callosum, Microcephaly, Aortic... |
OMIM:612289 |
Fetal Akinesia Deformation Sequence 1 |
|
Increased nuchal translucency, Absent septum pellucidum, Nonimmune hydrops fetalis, Hydrocephalus... |
OMIM:208150 |
Craniopharyngioma |
|
Hydrocephalus, Cerebral calcification, Cerebral ischemia, Myocardial infarction |
ORPHA:54595 |
Marden-Walker Syndrome |
|
Hydrocephalus, Microcephaly, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:2461 |
Cockayne Syndrome B |
|
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebral atrophy, Dec... |
OMIM:133540 |
Loeys-Dietz Syndrome 3 |
|
Aortic regurgitation, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Tortuous c... |
OMIM:613795 |
Raine Syndrome |
|
Microcephaly, Cerebral calcification, Hydrocephalus |
OMIM:259775 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Abnormal corpus callosum morphology, Vascular ring, Secondary microcephaly... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Abnormal corpus callosum morphology, Vascular ring, Secondary microcephaly... |
ORPHA:353277 |
Full Nf2-Related Schwannomatosis |
|
Hyperesthesia, Myelopathy, Somatic sensory dysfunction, Hemiparesis, Hydrocephalus, Unsteady gait |
ORPHA:637 |
Kabuki Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Microcephaly, Coarctation of aorta, Hydrocephalus |
ORPHA:2322 |
Gorlin Syndrome |
|
Cerebral calcification, Calcification of falx cerebri, Hydrocephalus |
ORPHA:377 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Microcephaly, Hydrocephalus, Palpebral edema, Patent ductus arteriosus |
ORPHA:261337 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Shprintzen-Goldberg Syndrome |
|
Microcephaly, Communicating hydrocephalus, Mitral regurgitation, Ventriculomegaly |
ORPHA:2462 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus |
OMIM:244400 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus |
OMIM:260660 |
Acrofacial Dysostosis 1, Nager Type |
|
Polymicrogyria, Tetralogy of Fallot, Microcephaly, Hydrocephalus, Aqueductal stenosis, Patent duc... |
OMIM:154400 |
Hypoplasminogenemia |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:722 |
Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Absent septum pellucidum, Agenesis of corpus callosum, Polyhydramnios... |
OMIM:236680 |
Basal Cell Nevus Syndrome 1 |
|
Calcification of falx cerebri, Hydrocephalus, Spina bifida |
OMIM:109400 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hydrocephalus |
OMIM:101800 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Hydrocephalus, Encephalocele |
ORPHA:90652 |
Mend Syndrome |
|
Aortic valve stenosis, Dandy-Walker malformation, Hydrocephalus, Hypertonia |
OMIM:300960 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:2658 |
Knobloch Syndrome |
|
Hydrocephalus, Occipital encephalocele, Patent ductus arteriosus |
ORPHA:1571 |
Acrofacial Dysostosis, Cincinnati Type |
|
Pulmonary artery aneurysm, Ventriculomegaly, Abnormality of coordination, Myoclonus, Pulmonary ar... |
OMIM:616462 |
Campomelic Dysplasia |
|
Spinal dysraphism, Hydrocephalus, Spina bifida, Polyhydramnios, Wide anterior fontanel |
OMIM:114290 |
Genitopatellar Syndrome |
|
Pachygyria, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Polyhydramnios, Thin corpus ... |
OMIM:606170 |
Peters Plus Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Microceph... |
ORPHA:709 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bruising susceptibility, Tremor, Pulmonary artery stenosis, Pulmonary arterial hypertension, Hydr... |
ORPHA:667 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypertension, Hydrocephalus, Wide anterior fontanel |
ORPHA:95699 |
Wiedemann-Rautenstrauch Syndrome |
|
Spasticity, Polymicrogyria, Abnormal corpus striatum morphology, Prominent scalp veins, Action tr... |
ORPHA:3455 |
Peters-Plus Syndrome |
|
Wide anterior fontanel, Ventriculomegaly, Cerebral atrophy, Agenesis of corpus callosum, Microcep... |
OMIM:261540 |
Pmm2-Cdg |
|
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Abnormality of coordination, Angina pectoris, ... |
ORPHA:79318 |
Neurofibromatosis, Type I |
|
Renal artery stenosis, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension |
OMIM:162200 |
Atypical Werner Syndrome |
|
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Retinal degenerat... |
ORPHA:79474 |
Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Hydrocephalus, Patent ductus arteriosus, Mitral stenosis |
ORPHA:955 |
Tuberous Sclerosis Complex |
|
Cortical tubers, Pulmonary lymphangiomyomatosis, Aortic aneurysm, Subependymal nodules, Internal ... |
ORPHA:805 |
Wolf-Hirschhorn Syndrome |
|
Ventriculomegaly, Periventricular cysts, Absent septum pellucidum, Agenesis of corpus callosum, M... |
OMIM:194190 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Agenesis of corpus callosum, Hydrocephalus, Hypertonia, Truncal ataxia, In... |
OMIM:264090 |
Proteus Syndrome |
|
Retinal nonattachment, Irregular hyperpigmentation, Chorioretinal coloboma, Central heterochromia... |
ORPHA:744 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... |
OMIM:609192 |
Hardikar Syndrome |
|
Pigmentary retinopathy, Patent ductus arteriosus |
OMIM:301068 |
Baller-Gerold Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Spina bifida occulta, Wide anterior f... |
OMIM:218600 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Hypertrophic cardiomyopathy, Mitral regurgitation, Hypoplasia of the corpus... |
ORPHA:363700 |
Tetrasomy 9P |
|
Polymicrogyria, Juxtaductal coarctation of the aorta, Pulmonary arterial hypertension, Raynaud ph... |
ORPHA:3310 |
Hajdu-Cheney Syndrome |
|
Hydrocephalus, Patent ductus arteriosus |
OMIM:102500 |
Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Anencephaly |
ORPHA:2369 |
Fanconi Anemia, Complementation Group L |
|
Hydrocephalus |
OMIM:614083 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Total anomalous pulmonary venous return, Cardiomyopathy, Agenesis of corpus callosum, Arrhythmia,... |
OMIM:312870 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Orthostatic hypotension |
OMIM:606721 |
Focal Dermal Hypoplasia |
|
Myelomeningocele, Agenesis of corpus callosum, Telangiectasia, Microcephaly, Hydrocephalus, Spina... |
OMIM:305600 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Venous insufficiency |
ORPHA:1106 |
Fraser Syndrome 1 |
|
Abnormal cortical gyration, Myelomeningocele, Encephalocele, Microcephaly, Hydrocephalus |
OMIM:219000 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Gait disturbance, Hydrocephalus |
ORPHA:3042 |
Pseudoaminopterin Syndrome |
|
Hydrocephalus |
ORPHA:221120 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Microcephaly, Hydrocephalus |
OMIM:619321 |
Coffin-Siris Syndrome 12 |
|
Hippocampal atrophy, Tetralogy of Fallot, Microcephaly, Heart murmur, Noncommunicating hydrocephalus |
OMIM:619325 |
Otopalatodigital Syndrome, Type Ii |
|
Wide anterior fontanel, Dilatation of the sinus of Valsalva, Hydrocephalus, Spina bifida |
OMIM:304120 |
Oeis Complex |
|
Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Tetraamelia Syndrome 1 |
|
Hydrocephalus |
OMIM:273395 |
Roberts-Sc Phocomelia Syndrome |
|
Microcephaly, Hydrocephalus, Frontal encephalocele, Polyhydramnios, Patent ductus arteriosus |
OMIM:268300 |
Townes-Brocks Syndrome 1 |
|
Tetralogy of Fallot, Microcephaly, Holoprosencephaly, Hydrocephalus |
OMIM:107480 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Tetralogy of Fallot, Right aortic arch, Agenesis of corpus callosum, Coa... |
OMIM:164210 |
Exstrophy-Epispadias Complex |
|
Microcephaly, Hydrocephalus, Spina bifida |
ORPHA:322 |