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Gene: Plpp7 MGI:2445183

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
phospholipid phosphatase 7 (inactive)
Synonyms:
D830019K17Rik,  Ppapdc3,  NET39

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Plpp7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Plpp7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Difficulty ... OMIM:616199
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Neck muscle weakness, Limb muscle weakn... OMIM:500002
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait, Distal muscle weakness OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, P... OMIM:618848
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Difficulty walking, Distal upper limb amyotro... ORPHA:603
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Type 1 muscle fiber predominance, Muscle weakness OMIM:616304
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness OMIM:616231
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, G... OMIM:164300
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Mus... OMIM:609524
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy, N... OMIM:616209
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tip-toe gait, Tibialis anterior muscle atrophy, Neck mu... OMIM:160500
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... ORPHA:171706
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Progressive distal muscle wea... ORPHA:399086
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Difficulty walking, Neck muscle weakness, ... OMIM:609285
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Distal muscle weakness OMIM:614369
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Loss of ambula... OMIM:603511
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... OMIM:610687
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized muscle weakness... OMIM:256030
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Myopathy ORPHA:366
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Progressive distal muscle weakness, Multiple joint contrac... ORPHA:98911
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... OMIM:600334
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Steppage g... OMIM:610099
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314802
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Gait ataxia, Upper limb muscle wea... ORPHA:309169
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Amyotrophic Lateral Sclerosis 27, Juvenile
Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Q... OMIM:620285
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... OMIM:611615
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Loss of ambulation, Calf muscle hyper... OMIM:616052
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Generalized weakness of limb muscles, Difficulty walking, Type 1 muscle fiber predom... ORPHA:353327
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, H... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Merrf
Short stature, Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism OMIM:262700
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ragged-red muscle fibers, Myopathy, Ataxia OMIM:545000
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Progressive distal mu... ORPHA:399103
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... OMIM:617069
Bethlem Muscular Dystrophy
Difficulty walking, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture... ORPHA:610
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... OMIM:613530
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Fatig... ORPHA:424107
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... OMIM:609284
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Short Stature Due To Ghsr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314811
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Waddlin... OMIM:255200
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Neonatal death, Generalized mus... OMIM:616165
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... ORPHA:119
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Hypoketotic hypoglycemia, Neonatal hypoglycemia, Nonketotic hypoglycemia ORPHA:293964
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... OMIM:617070
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness, Fiber type grouping, Th... OMIM:619903
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Mitochondrial Myopathy, Infantile, Transient
Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied mus... OMIM:500009
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Respiratory insufficiency due to m... OMIM:300580
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness OMIM:614807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Mitochondrial hypertrophy, ... OMIM:602541
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Hypoglycemia, Gait imbalance, Rhabdomyolysis, Short stature, Muscle we... OMIM:618120
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Gowers sign, Facial palsy, M... OMIM:617336
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Inability to walk, Abnormality of the shou... ORPHA:206546
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Inability to walk, Type 1 muscle fiber predominance, Ataxia, Respiratory... OMIM:618276
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... ORPHA:98905
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic flaccid weakness, Respiratory paralysis, Increased intramyoc... ORPHA:681
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Type 1 muscle fiber predominance, Limb muscle... OMIM:161800
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ophthalmoparesis, Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficul... OMIM:616479
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... OMIM:608930
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Loss of abili... OMIM:609560
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... OMIM:603034
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... OMIM:619790
Glycogen Storage Disease Ixb
Growth delay, Hypoglycemia, Short stature, Increased muscle glycogen content, Muscle weakness OMIM:261750
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Athetosis, Ragged-red muscle fibers, Ataxia OMIM:615159
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Diffi... ORPHA:401768
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Diaphragmatic weakness, ... OMIM:614399
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ragged-red muscle fibers, Myopathy, Ataxia, Growth delay OMIM:618242
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mitochondrial swellin... ORPHA:397744
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... OMIM:607855
Glycogen Storage Disease Iii
Distal amyotrophy, Hypoglycemia, Myopathy, Short stature, Muscle weakness OMIM:232400
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... ORPHA:263494
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Growth delay, Hypoglycemia OMIM:262400
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakness ORPHA:238329
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia ORPHA:972
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Diastasis recti, Short stature, Neonatal hypoglycemia ORPHA:231140
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Combined Oxidative Phosphorylation Deficiency 49
Difficulty walking, Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Short stature, Increased variability in muscle fiber diameter, Increased intramyocellular lipid d... OMIM:619065
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Proximal muscle weakness... OMIM:255310
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty... ORPHA:596
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Fatigua... ORPHA:171881
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Muscle weakness, Hypoglycemia OMIM:616111
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Difficulty walking, Inabi... ORPHA:206559
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Muscle fiber atrophy, Myo... ORPHA:369840
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... ORPHA:98913
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Weakness of facial musculatur... OMIM:618416
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Hypoglycemia, Intrauterine growth retardation, Dysmetria, Finger joint contracture, Short... ORPHA:48431
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, Hypoglycosylation of alpha-d... OMIM:609308
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Type 1 muscle fibe... ORPHA:171433
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Gait ataxia, Ataxia OMIM:617915
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Waddling gait, Facial diplegia, ... ORPHA:171436
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Ophthalmoplegia, Increased intramyocell... OMIM:252011
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Broad-based gait, Scapular muscle a... OMIM:181405
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Ophthalmoparesis, Ragged-red muscle fibers, Paroxysmal choreoathetosis OMIM:500003
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Glycogen Storage Disease Vi
Postnatal growth retardation, Hypoglycemia OMIM:232700
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Ankle weakness, Shoulder girdle muscle weakness, Difficulty walking, Distal uppe... ORPHA:600
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia ORPHA:480
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Ophthal... ORPHA:597
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... OMIM:608931
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Difficulty walking, Facial diplegia, Foot dorsiflexor weak... ORPHA:329478
Mehmo Syndrome
Hypoglycemia, Difficulty walking, Inability to walk, Gait ataxia, Birth length less than 3rd perc... OMIM:300148
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... OMIM:605809
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Abnormal mitoch... ORPHA:99013
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy, Ophthalmoplegia, Gait disturbance, Ataxia OMIM:125250
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypoglycemia OMIM:610090
Non-Acquired Isolated Growth Hormone Deficiency
Decreased muscle mass, Delayed puberty, Short stature, Neonatal hypoglycemia, Growth delay ORPHA:631
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Intermittent episodes of respiratory insufficiency due ... ORPHA:324604
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... OMIM:611588
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Ragged-red ... ORPHA:254886
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... OMIM:254210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Li... OMIM:258450
Spinocerebellar Ataxia 28
Ophthalmoparesis, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retardation, Dysmetria, Limb hypertoni... OMIM:617710
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... OMIM:615959
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... OMIM:620011
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal upper limb muscle weakness, Mitochondrial hypertrophy, Interosseus muscle atrophy, Difficu... OMIM:500013
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Atax... OMIM:613662
Combined Oxidative Phosphorylation Deficiency 8
Generalized muscle weakness, Increased variability in muscle fiber diameter, Neonatal death OMIM:614096
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... OMIM:617258
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Ketotic hypoglycemia, Myopathy ORPHA:26792
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Inability to walk, Loss of ambulation, Gait disturbance, Athetosis OMIM:618241
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Shor... OMIM:226670
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Limb ataxia... OMIM:248800
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypoglycemia, Fatigable weakness, Myopathy, Proximal muscle weakness, Fa... ORPHA:42
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Hypoglycemia, Postnatal growth retardation, Type II diab... ORPHA:453533
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypogl... ORPHA:324575
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia, Musc... OMIM:606407
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Unsteady gait, Gait ataxia, Recurrent hypoglycemia OMIM:618158
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retardation, Neonatal death, Poor head... OMIM:245400
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Neonatal death, Arthro... OMIM:619334
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Generalized muscle weakness, H... ORPHA:276608
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Increased variability in muscle fiber diameter OMIM:613752
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Left ventricular hypertrophy, Hypoglycemia OMIM:619048
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Growth delay, Muscle ... OMIM:613561
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Intrauterine growth retardation, Type 1 muscle fiber predominance, Hip... ORPHA:319514
Hsd10 Mitochondrial Disease
Choreoathetosis, Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... OMIM:151800
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Lower limb muscle weakness OMIM:617950
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ophthalmoparesis, Ragged-red muscle fibers, Progressive external ophthalmoplegia, Gait disturbanc... ORPHA:1349
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Maternal diabetes, Fasting ... ORPHA:276580
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive external op... OMIM:609286
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Coenzyme Q10 Deficiency, Primary, 9
Impaired tandem gait, Type 2 muscle fiber predominance, Dysmetria, Ataxia OMIM:619028
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Cog8-Cdg
Poor head control, Skeletal muscle atrophy, Hypoglycemia, Ataxia ORPHA:95428
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Short stature, Growth delay OMIM:620211
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Left ventricular hypertrophy, Diabetes mellitus OMIM:540000
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... ORPHA:178148
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... OMIM:619574
Houge-Janssens Syndrome 1
Hypoglycemia, Intrauterine growth retardation, Gait ataxia, Congenital muscular torticollis, Faci... OMIM:616355
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, External ophthalmoplegia, Broad-based gait, Myopa... OMIM:607459
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Limb hypertonia, Joint contracture, Poor head control, Short stature ORPHA:35708
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Diffic... OMIM:255125
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakness of facial musculatur... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Growth delay, Dysdiadochokinesis, Difficulty walk... ORPHA:502423
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Tip-toe gait, Difficult... ORPHA:300605
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Distal amyotrophy, Loss of ambulation, Ophthalmoplegia, Ataxia, Fiber type grouping, Athetosis, M... OMIM:271245
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Difficulty walking, Muscle f... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, Difficulty walking, Muscle f... ORPHA:98914
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... OMIM:616720
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Axial muscle weakness... ORPHA:206569
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... OMIM:157640
Carnitine Deficiency, Systemic Primary
Recurrent hypoglycemia, Myopathy, Proximal muscle weakness, Reduced muscle carnitine level, Impai... OMIM:212140
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Hypoglycemia, Intrauterine growth retardation, Proportionate short stature, Sev... ORPHA:391408
Optic Atrophy 11
Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Gait apraxia, Ataxia,... OMIM:617302
Combined Oxidative Phosphorylation Deficiency 58
Ophthalmoparesis, Hypoglycemia, Difficulty walking, Gait ataxia, Ragged-red muscle fibers, Ataxia... OMIM:620451
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... ORPHA:98915
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Ataxia OMIM:246900
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Intrauterine growth retardation, Hypoglycemia, Elbow contracture OMIM:620275
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Lower limb muscle weakness, Hypoketotic hypoglycemia, Progressive distal muscle wea... ORPHA:746
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Growth delay, External ophth... OMIM:619026
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Short stature, Postnatal growth retardation, Hypoglycemia ORPHA:231137
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Recurrent hypoglycemia, Postnatal growth retardation, Rhabdomyolysis, Ke... ORPHA:79240
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypoglycemia, Inability to walk, Rhabdomyolysis, Proximal muscle weaknes... ORPHA:26791
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Ataxia, Short stature, Diabetes m... OMIM:530000
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Intrauterine growth retardation, Loss of ambulation, Limb hypertonia, Poor head con... ORPHA:565624
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle weakness, Delayed p... OMIM:600462
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:369
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Muscle weakness, Rhabdomyolysis OMIM:212138
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Hyperinsulinemic hypogly... ORPHA:276556
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Proximal amyotrophy, Facial palsy... OMIM:615084
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retardation, ... ORPHA:73272
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Tendon rupture, Fiber... OMIM:620080
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Inability to walk, Muscle fiber atrophy, Short s... ORPHA:168572
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276575
Donohue Syndrome
Postprandial hyperglycemia, Skeletal muscle atrophy, Postnatal growth retardation, Intrauterine g... OMIM:246200
Classic Galactosemia
Hypoglycemia, Gait imbalance, Gait disturbance, Delayed puberty, Ataxia ORPHA:79239
2P21 Microdeletion Syndrome
Growth delay, Hypoglycemia ORPHA:163693
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypoglycemia, Gait ataxia, Rhabdomyolysis, Gait disturbance, Ataxia, Acute rhabdomyolysis, Muscle... OMIM:616878
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Hypoglycemia OMIM:618958
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Myopathy, Maternal diabetes, Abnormality... ORPHA:79083
Isolated Complex I Deficiency
Hypoglycemia, Intrauterine growth retardation, Ataxia, Poor head control, Diabetes mellitus, Musc... ORPHA:2609
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Insulin insensitivity, Type II diabetes mellitus, Weakness of fac... OMIM:602668
Temple Syndrome
Short stature, Postnatal growth retardation, Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Intrauterine growth retardation, Ataxia, Neonatal hypoglycemia, Growth... ORPHA:66634
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Difficulty walking, Neck mus... ORPHA:99845
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Difficulty walking, Intrauterine growth retardation, Dysmetria, Limb hypertonia, Ataxi... ORPHA:572798
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Postnatal growth retardation, Ataxia, Short stature OMIM:616113
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Ophthalmoparesis, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Short stature, Facia... ORPHA:3068
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 19
Poor head control, Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Hemochromatosis, Neonatal
Intrauterine growth retardation, Hypoglycemia OMIM:231100
Insulinoma
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Genera... ORPHA:97279
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypoglycemia ORPHA:156
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... ORPHA:171430
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia, Intrauterine growth retardation, Gait ataxia, Delayed puberty, Short stat... OMIM:616817
Glycogen Storage Disease Ixc
Hypoglycemia, Postnatal growth retardation, Growth delay, Fasting hypoglycemia OMIM:613027
Hsd10 Disease, Infantile Type
Poor head control, Choreoathetosis, Loss of ambulation, Hypoglycemia ORPHA:391428
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia ORPHA:364
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Proximal m... OMIM:300257
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Rhabdomyolysis, Muscle weakness, Myopathy ORPHA:228305
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Abnormal mitochondrial shape, Skeletal muscle atr... ORPHA:17
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ophthalmoparesis, Gait ataxia, Ragged-red muscle ... ORPHA:70595
Silver-Russell Syndrome 2
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:618905
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Hyperglycemia, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Pyruvate Carboxylase Deficiency
Athetosis, Hypoglycemia OMIM:266150
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Poor head control, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominan... OMIM:612949
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness, Weakness o... OMIM:616239
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Muscle weakness, Ataxia OMIM:619046
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Hypoglycemia OMIM:614739
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Myopathy, Abnormality of skeletal muscle fiber size, Diabetes mellitus, Skele... ORPHA:2348
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Mitochondrial Complex I Deficiency, Nuclear Type 33
Loss of ambulation, Intrauterine growth retardation, Hypoglycemia OMIM:618253
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Smith-Kingsmore Syndrome
Rhizomelia, Diastasis recti, Hypoglycemia OMIM:616638
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Growth delay, Hypoglycemia, Progressive muscle weakness, Delayed puberty... ORPHA:264580
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
Propionic Acidemia
Hypoglycemia ORPHA:35
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Skeletal muscle atrophy, Hypoglycemia, Recurrent hypoglycemia, Loss of ambulati... OMIM:256810
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Malonyl-Coa Decarboxylase Deficiency
Short stature, Hypoglycemia OMIM:248360
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia, Ataxia ORPHA:2394
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ophthalmoparesis, Decreased muscle mass, Foot dorsiflexor weakness, Rag... ORPHA:298
Laron Syndrome
Severe short stature, Delayed puberty, Hypoglycemia ORPHA:633
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Hypoglycemia ORPHA:79096
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Difficulty walking,... ORPHA:206572
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
Propionic Acidemia
Short stature, Limb hypertonia, Hypoglycemia OMIM:606054
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia OMIM:619386
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Muscle weakness OMIM:232800
Glycogen Storage Disease Ixa1
Growth delay, Hypoglycemia OMIM:306000
Leigh Syndrome
Skeletal muscle atrophy, Athetosis, Hypoglycemia, Intrauterine growth retardation, Multiple joint... ORPHA:506
Acyl-Coa Dehydrogenase 9 Deficiency
Fatigable weakness, Myopathy, Generalized muscle weakness, Nonketotic hypoglycemia, EMG: myopathi... ORPHA:99901
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Intrauterine growth retardation, Left ventricular hypertrophy, Setting-sun eye phenomenon, Hypogl... OMIM:619355
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Combined Oxidative Phosphorylation Deficiency 10
Intrauterine growth retardation, Hypoglycemia OMIM:614702
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia, Rhabdomyolysis, Myopathy, Generalized muscle weakness OMIM:609015
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Muscle weakness, Nonketotic hypoglycemia OMIM:201475
Tenorio Syndrome
Macroglossia, Hypoinsulinemia, Gait disturbance, Hypoglycemia OMIM:616260
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia ORPHA:2089
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia, Rhabdomyolysis, Delayed puberty, Short stature, Growth delay, Muscle weakness OMIM:614921
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Muscle weakness, Rhabdomyolysis ORPHA:159
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Intrauterine growth retardation, Neonatal death, Bulbar palsy, Poor head control, N... OMIM:619055
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hypoglycemia, Ragged-red muscle fibers, Increased intramyocellular lipid... OMIM:252010
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Glycogen Storage Disease Ia
Decreased muscle mass, Hypoglycemia, Delayed puberty, Fasting hypoglycemia, Short stature, Growth... OMIM:232200
Polymyositis
Proximal muscle weakness, Gait disturbance, Abnormal muscle fiber morphology ORPHA:732
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, ... ORPHA:552
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Neonatal hypoglycemia, Diastasis recti ORPHA:457485
Silver-Russell Syndrome
Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia, Postnatal growth retardation, ... ORPHA:813
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemia, Ataxia, Hypoglycemic seizures, Acute rhabdomyolysis, EMG: myopathic abnormalities ORPHA:480864
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Contracture of the proximal interphalangeal joint of the 4th toe, Congenital muscul... ORPHA:457279
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Loss of ambulation, Decreased level of coenzyme Q10 in skeletal muscle,... OMIM:607426
Shashi-Pena Syndrome
Intrauterine growth retardation, Limb hypertonia, Hypoglycemia OMIM:617190
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Ragged-red muscle fibers, Rhabdomyolysis, Ne... OMIM:124000
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Hypoglycemia, Neonatal death OMIM:618839
Autosomal Dominant Progressive External Ophthalmoplegia
Ataxia, External ophthalmoplegia, Ophthalmoparesis, Quadriceps muscle weakness, Shoulder girdle m... ORPHA:254892
Post-Traumatic Pituitary Deficiency
Delayed puberty, Hypoglycemia, Growth delay ORPHA:95619
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Muscle weakness, Hypoglycemia, Myopathy, Short stature, Abdominal wall m... ORPHA:109
Immunodeficiency 10
Hypoglycemia, Myopathy OMIM:612783
Silver-Russell Syndrome Due To A Point Mutation
Postnatal growth retardation, Intrauterine growth retardation, Hypoglycemia ORPHA:397590
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Fasting hypoglycemia ORPHA:436174
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting, Proximal muscle weakness OMIM:606408
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Ophthalmoparesis, Lower limb muscle weakness, Episodic flaccid weakne... ORPHA:79102
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Intrauterine growth retardation, Ataxia, Flexion contracture, Neonatal hypoglycemia, ... OMIM:616271
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Myopathy, Delayed puberty, Short stature, Muscle ... OMIM:611881
Myasthenia, Limb-Girdle, Autoimmune
Ophthalmoparesis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness OMIM:159400
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia OMIM:618838
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness OMIM:619424
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia, Inability to walk by childhood/adolescence, Torticollis, Athetosis, Choreoathetosis OMIM:620224
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 20
Muscle weakness, Hypoglycemia OMIM:611126
Multiple Acyl-Coa Dehydrogenase Deficiency
Muscle weakness, Glycosuria, Hypoglycemia, Neonatal death OMIM:231680
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hypoglycemia, Intrauterine growth retardation, Joint contracture OMIM:618005
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hypoglycemia ORPHA:5
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho... ORPHA:2020
Basilicata-Akhtar Syndrome
Camptodactyly, Neonatal hypoglycemia OMIM:301032
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hypoglycemia, Intrauterine growth retardation, Short stature, Growth delay OMIM:608779
Snakebite Envenomation
Muscle fiber necrosis, Respiratory paralysis, Rhabdomyolysis ORPHA:449285
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Impaired gluconeogenesis, Fasting hypoglycemia OMIM:261680
Maple Syrup Urine Disease, Type Ia
Hypoglycemia, Ataxia OMIM:248600
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death OMIM:300219
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Growth delay, Hypoglycemia OMIM:615453
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype... ORPHA:769
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Severe postnatal growth retardation, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Inability to walk, Muscle fiber atrophy, Myositi... ORPHA:258
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Elbow flexion contracture, Increased muscle lipid content, Knee flexion contracture... OMIM:608836
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Muscle weakness, Hypoglycemia OMIM:251000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Growth delay OMIM:231530
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Reni Syndrome
Hypoglycemia, Ataxia OMIM:617575
Pituitary Hormone Deficiency, Combined, 2
Short stature, Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Rhabdomyolysis, Muscle weakness, Myopathy ORPHA:157
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy OMIM:604377
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Intrauterine growth retardation, Hypoketotic hypoglycemia, Proportionat... ORPHA:71212
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Severe intrauterine growth retardation, Flexion contracture, Diabete... OMIM:609069
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle weakness, Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb mus... ORPHA:1900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Hypoglycemia OMIM:210210
Silver-Russell Syndrome 1
Intrauterine growth retardation, Fasting hypoglycemia OMIM:180860
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Oculodentodigital Dysplasia
Hypoglycemia, Camptodactyly of finger, Gait disturbance, Ataxia, Muscle weakness ORPHA:2710
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Flexion contracture, Growth delay, Hypoglycemia OMIM:616007
Galactokinase Deficiency
Hyperinsulinemia, Hypoglycemia ORPHA:79237
Pituitary Hormone Deficiency, Combined, 6
Short stature, Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Melas
Type I diabetes mellitus, Type II diabetes mellitus, Ragged-red muscle fibers, Myopathy, Progress... ORPHA:550
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Decreased muscle mass, Postnatal growth retardation, Intrauterine growth reta... ORPHA:96182
Timothy Syndrome
Hypoglycemia OMIM:601005
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia ORPHA:348
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Ataxia ORPHA:1020
D-Glyceric Aciduria
Growth delay, Hypoglycemia OMIM:220120
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Glycosuria, Fasting hypoglycemia, Growth delay, Impaired glucose tole... ORPHA:2088
Glutaric Acidemia I
Choreoathetosis, Hypoglycemia OMIM:231670
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Intrauterine growth retardation, Hypoglycemia OMIM:617093
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Aica-Ribosiduria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Mitochondrial Trifunctional Protein Deficiency 2
Hypoglycemia, Neonatal death OMIM:620300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia ORPHA:79644
Solitary Fibrous Tumor
Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia ORPHA:2126
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Ataxia ORPHA:134
Pituitary Stalk Interruption Syndrome
Short stature, Delayed puberty, Hypoglycemia ORPHA:95496
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Glycerol Kinase Deficiency
Muscular dystrophy, Hypoglycemia, Myopathy, Short stature, Growth delay OMIM:307030
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Long-Olsen-Distelmaier Syndrome
Hypoglycemia OMIM:620609
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Hypoglycemia OMIM:607143
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Orthostatic Hypotension 1
Neonatal hypoglycemia, Weakness of facial musculature OMIM:223360
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Growth delay, Choreoathetosis ORPHA:445038
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Intrauterine growth retardation, To... OMIM:617022
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Muscle weakness OMIM:255120
Mirage Syndrome
Short stature, Intrauterine growth retardation, Hypoglycemia OMIM:617053
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Combined Oxidative Phosphorylation Deficiency 37
Poor head control, Hypoglycemia OMIM:618329
Menkes Disease
Intrauterine growth retardation, Aplasia/Hypoplasia of the abdominal wall musculature, Muscle wea... ORPHA:565
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Congenital Disorder Of Glycosylation, Type Iiaa
Hypoglycemia, Knee flexion contracture OMIM:620454
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Neonatal hypoglycemia, Growth delay, Hypoglycemia, Weakness of facial musculature OMIM:619418
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Ophthalmoplegia, Ragged-red muscle fibers OMIM:614924
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia OMIM:210200
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Muscle weakness, Hypoglycemia ORPHA:199299
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Pyruvate Carboxylase Deficiency
Tip-toe gait, Hypoglycemia, Hyperglycemia, Ataxia, Growth delay ORPHA:3008
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Macro... OMIM:613150
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Hypoglycemia OMIM:267000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Exercise-induced rhabdomyolysis ORPHA:26793
Kabuki Syndrome 2
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:300867
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Macroglossia, Hypoglycemia OMIM:614501
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Postnatal growth retarda... ORPHA:508
Shigellosis
Hypoglycemia, Rhabdomyolysis ORPHA:810
Holoprosencephaly
Muscle weakness, Diabetes mellitus, Congenital diaphragmatic hernia, Hypoglycemia ORPHA:2162
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia OMIM:605911
Cholera
Muscle weakness, Hypoglycemia ORPHA:173
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Postnatal growth retardation, Glycosuria, Fasting hypoglycemia OMIM:227810
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ophthalmoparesis, Distal amyotrophy, Ragged-red muscle fibers, Progressive external ophthalmopleg... OMIM:603041
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia OMIM:617049
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Mitochondrial Dna-Associated Leigh Syndrome
Ophthalmoparesis, Gait ataxia, Ragged-red muscle fibers, Ataxia, Muscle weakness ORPHA:255210
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... ORPHA:565612
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Hypoglycemia OMIM:251880
Immunodeficiency 59 And Hypoglycemia
Short stature, Hypoglycemia OMIM:233600
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Fasting hypoglycemia, Ataxia ORPHA:25
Sotos Syndrome
Neonatal hypoglycemia, Glucose intolerance OMIM:117550
Acute Adrenal Insufficiency
Delayed puberty, Muscle weakness, Hypoglycemia ORPHA:95409
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Growth delay, Hypoglycemia, Ataxia ORPHA:79282
Familial Glucocorticoid Deficiency
Hypoglycemic seizures, Azoospermia, Ketotic hypoglycemia ORPHA:361
Sheehan Syndrome
Muscle weakness, Hypoglycemia ORPHA:91355
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia OMIM:246450
Alg12-Cdg
Camptodactyly, Intrauterine growth retardation, Recurrent hypoglycemia ORPHA:79324
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Nonketotic hypoglycemia, Recurrent hypoglycemia ORPHA:20
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture OMIM:613154
Combined Oxidative Phosphorylation Deficiency 59
Ketotic hypoglycemia OMIM:620646
Methylmalonic Aciduria, Cblb Type
Hypoglycemia OMIM:251110
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Macroglossia, Growth delay, Pituitary dwarfism ORPHA:226307
Congenital Syphilis
Intrauterine growth retardation, Hypoglycemia ORPHA:499009
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Hypoglycemia OMIM:620423
Glycogen Storage Disease Ib
Short stature, Delayed puberty, Hypoglycemia OMIM:232220
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Neonatal hypoglycemia, Myopathy OMIM:261740
Addison Disease
Type I diabetes mellitus, Delayed puberty, Muscle weakness, Hypoglycemia ORPHA:85138
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the... ORPHA:373
Pituitary Apoplexy
Hypoglycemia ORPHA:95613
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Difficulty walking, Neonatal hypoglycemia, Gait ataxia ORPHA:457359
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Delayed puberty, Short stature, Growth delay ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hyperglycemia, Dysmetria, Left ventricular hypertrophy, Ataxia, Truncal ataxia OMIM:220111
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Azoospermia, Neonatal hypoglycemia ORPHA:90791
Primary Fanconi Renotubular Syndrome
Muscle weakness, Growth delay, Glycosuria, Hypoglycemia ORPHA:3337
Beckwith-Wiedemann Syndrome
Hypoglycemia, Diastasis recti, Congenital diaphragmatic hernia, Leiomyosarcoma, Macroglossia, Rha... ORPHA:116
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Hypoglycemia OMIM:617156
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia OMIM:610768
Costello Syndrome
Hypoglycemia, Achilles tendon contracture, Short stature, Macroglossia, Rhabdomyosarcoma OMIM:218040
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Intrauterine growth retardation, Growth delay, Hypoglycemia OMIM:613658
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia OMIM:301066
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia ORPHA:90790
Non-Acquired Panhypopituitarism
Hypoglycemia, Pituitary dwarfism, Delayed puberty, Short stature, Growth delay ORPHA:90695
Hereditary Fructose Intolerance
Growth delay, Reactive hypoglycemia ORPHA:469
Deeah Syndrome
Short stature, Intrauterine growth retardation, Neonatal hypoglycemia OMIM:619004
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Oligozoospermia ORPHA:786
Tyrosinemia, Type I
Growth delay, Hypoglycemia OMIM:276700
Glycogen Storage Disease Ic
Delayed puberty, Hypoglycemia OMIM:232240
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Histiocytoid Cardiomyopathy
Hypoglycemia ORPHA:137675
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia ORPHA:228308
Beckwith-Wiedemann Syndrome
Macroglossia, Neonatal hypoglycemia, Diastasis recti OMIM:130650
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Growth delay, Neonatal death OMIM:617248
Neurooculorenal Syndrome
Postnatal growth retardation, Recurrent hypoglycemia OMIM:620305
Choreoacanthocytosis
Peroneal muscle atrophy, Distal amyotrophy, Falls, Muscle fiber atrophy, Myopathy, Loss of ambula... ORPHA:2388
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Delayed puberty ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Delayed puberty ORPHA:289548
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Acute Liver Failure
Hypoglycemia, Ataxia ORPHA:90062
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia, Delayed puberty, Pituitary dwarfism, Growth delay ORPHA:95494
Fructose Intolerance, Hereditary
Glycosuria, Hypoglycemia OMIM:229600
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Tendon rupture, Short stature, Muscle weakness, Waddling gait OMIM:182250
Marburg Hemorrhagic Fever
Hypoglycemia ORPHA:99826
Holoprosencephaly 1
Short stature, Hypoglycemia OMIM:236100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Camptodactyly, Joint contracture of the hand, Hypoglycemia OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Neonatal hypoglycemia ORPHA:90794
Sotos Syndrome
Ankle flexion contracture, Hip contracture, Bilateral camptodactyly, Flexion contracture, Neonata... ORPHA:821

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Plpp7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plpp7.

No publications found that use IMPC mice or data for Plpp7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Plpp7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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