Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Chorea, Cognitive impairment, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Leukodystrophy, Hypomyelinating, 13 |
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Irritability, Failure to thrive, Exaggerated startle response, Ataxia |
OMIM:616881 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Failure to thrive, Inability to walk, Chorea, Short attention span, Irritability, Exaggerated sta... |
OMIM:617864 |
Stiff Person Spectrum Disorder |
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Difficulty walking, Falls, Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Difficulty walking, Impaired vibration sensation in the lower limbs, Exaggerated startle response |
ORPHA:320406 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 68 |
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Failure to thrive, Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Inability to walk, Depression, Exaggerated startle response |
OMIM:620114 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Ataxia |
OMIM:618598 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Chorea, Dementia, Exaggerated startle response |
OMIM:272750 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response |
OMIM:618056 |
Tay-Sachs Disease |
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Dementia, Psychomotor deterioration, Exaggerated startle response |
OMIM:272800 |
Stiff-Person Syndrome |
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Opisthotonus, Depression, Exaggerated startle response |
OMIM:184850 |
Sandhoff Disease |
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Ataxia, Progressive psychomotor deterioration, Impaired temperature sensation, Exaggerated startl... |
OMIM:268800 |
Tay-Sachs Disease |
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Depression, Memory impairment, Laryngeal dystonia, Inability to walk, Short attention span, Tremo... |
ORPHA:845 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Ataxia, Broad-based gait, Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Inability to walk, Exaggerated startle response |
OMIM:609541 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Difficulty walking, Gait ataxia, Exaggerated startle response, Ataxia |
OMIM:620451 |
Asparagine Synthetase Deficiency |
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Irritability, Failure to thrive, Tremor, Exaggerated startle response |
OMIM:615574 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Failure to thrive, Cognitive impairment, Exaggerated startle response |
OMIM:617527 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Dystonia, Irritability, Exaggerated startle response |
OMIM:620423 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Failure to thrive, Exaggerated startle response |
ORPHA:521426 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response |
OMIM:618367 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response |
ORPHA:79255 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Dystonia, Inability to walk, Exaggerated startle response |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Attention deficit hyperactivity disorder, Chordee, Exaggerated startle response |
OMIM:619522 |