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Gene: Gmppa MGI:1916330

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Gene Summary

Name:
GDP-mannose pyrophosphorylase A
Synonyms:
1810012N01Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased vertical activity Gmppaem1(IMPC)Tcp HOM Early adult 1.30×10-07
hyperactivity Gmppaem1(IMPC)Tcp HOM   Early adult 4.40×10-09
increased blood urea nitrogen level Gmppaem1(IMPC)Tcp HOM Early adult 7.29×10-05
enlarged lymph nodes Gmppaem1(IMPC)Tcp HOM Early adult 0.00
impaired cued conditioning behavior Gmppaem1(IMPC)Tcp HOM   Early adult 7.03×10-07
corneal opacity Gmppaem1(IMPC)Tcp HOM Early adult 3.04×10-05
impaired contextual conditioning behavior Gmppaem1(IMPC)Tcp HOM Early adult 3.61×10-08
decreased prepulse inhibition Gmppaem1(IMPC)Tcp HOM   Early adult 5.58×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

93 Images

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Eye Morphology

Images Slit Lamp

75 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Human diseases caused by Gmppa 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.

The table below shows human diseases associated to Gmppa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triple A Syndrome
Abnormality of the calf musculature, Optic atrophy, Abnormality of the hypothenar eminence ORPHA:869
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Ataxia, Dysphagia OMIM:615510

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... OMIM:619733
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... OMIM:167320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... OMIM:615424
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Gowers sign, Proximal muscle weakness, Z-... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... ORPHA:2593
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... ORPHA:611
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... OMIM:618129
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle... OMIM:605820
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Myopathy, Distal, Tateyama Type
Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... OMIM:614321
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Proximal muscle weakness, Achilles tendon contracture, Distal... OMIM:609200
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... ORPHA:178464
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... OMIM:605355
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu... OMIM:605726
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle w... OMIM:608627
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal muscle weakness, Hand muscle weakness, Upper li... OMIM:608323
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, P... OMIM:615575
Nemaline Myopathy 6
Skeletal muscle atrophy, Neck flexor weakness, Myopathy, Limb muscle weakness, Nemaline bodies OMIM:609273
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:302801
Rhabdomyolysis, Susceptibility To, 1
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... OMIM:620235
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle weakness, The... OMIM:614751
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Inclusion Body Myositis
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles OMIM:147421
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:607678
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... OMIM:620249
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... OMIM:620285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... OMIM:618138
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Frontotemporal dem... OMIM:615422
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Distal muscle weakness, Ca... OMIM:158810
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness OMIM:616231
Mitochondrial Myopathy With Diabetes
Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Proximal ... OMIM:500002
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ... ORPHA:90103
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Neck flexor weakness, Facial palsy, Poor head control, ... OMIM:602771
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... OMIM:612999
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... OMIM:613287
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, Mus... OMIM:609524
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, First do... ORPHA:139536
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Progressive proximal muscle weakness, ... ORPHA:2596
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Proximal muscle... OMIM:618823
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... OMIM:616228
Myopathy, Centronuclear, 4
Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy, Cognitive impairment ORPHA:551
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:605589
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... OMIM:607684
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Proximal muscle ... OMIM:616040
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Patent ductus... OMIM:619519
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... ORPHA:424107
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Welander Distal Myopathy
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles OMIM:604454
Zebra Body Myopathy
Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... ORPHA:97240
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... OMIM:181400
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Proximal musc... OMIM:616687
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... OMIM:618848
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... ORPHA:98896
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Oculopharyngodistal Myopathy 2
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... OMIM:618940
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... ORPHA:86812
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... ORPHA:266
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration... ORPHA:868
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity, Upper limb... ORPHA:99939
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... OMIM:616313
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... OMIM:619112
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... OMIM:605637
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... OMIM:606595
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... OMIM:616471
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Prog... ORPHA:329478
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... OMIM:620386
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Distal upper ... OMIM:618912
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... OMIM:255310
Myopathy, Centronuclear, 2
Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:255200
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in... ORPHA:254875
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:617066
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... OMIM:612937
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy OMIM:620111
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Distal muscle weakness, Fiber type grouping OMIM:614369
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p... OMIM:616209
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... OMIM:611705
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... OMIM:619477
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overw... ORPHA:486815
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Limb muscle... OMIM:600361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Progress... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Distal muscle weakness, Flexion contracture, Optic atr... OMIM:609260
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:605253
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Myasthenic Syndrome, Congenital, 17
Muscle weakness, Type 1 muscle fiber predominance OMIM:616304
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... OMIM:609284
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal cerebellum morphology, Frontotemporal cerebral atrophy, Dementia, Mental deterioration, ... ORPHA:101001
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... ORPHA:98897
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Distal muscle wea... ORPHA:435387
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Ectopia lentis, Cognitive impairment, Hyperlysinemia OMIM:238700
Nemaline Myopathy 7
Fatty replacement of skeletal muscle, Gowers sign, Respiratory insufficiency due to muscle weakne... OMIM:610687
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Distal amyotroph... OMIM:118210
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, ... OMIM:618484
Myopathy, Tubular Aggregate, 1
Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... OMIM:160565
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Poor head control, Respirator... OMIM:618184
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers relativel... OMIM:300580
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Distal amyotrophy, Type 1 muscle fiber predominance, Inc... OMIM:619042
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... ORPHA:99944
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Muscle weakness OMIM:545000
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Decreased nerve conduction velocity, Upper limb muscle weakness, Distal a... OMIM:302802
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... ORPHA:270
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased distal sensory nerve... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... OMIM:607706
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... OMIM:617070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... OMIM:609283
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Progressive distal muscl... ORPHA:101077
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... ORPHA:98856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocit... OMIM:614399
Klhl9-Related Early-Onset Distal Myopathy
Progressive distal muscle weakness, Ankle flexion contracture, Intrinsic hand muscle atrophy, Abn... ORPHA:399081
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Decreased compound muscle action potential amplitude, Flexion contracture, Myo... OMIM:618323
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... OMIM:603034
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Ragg... OMIM:609286
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Lower limb muscle weakness, Th... ORPHA:352675
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... OMIM:613204
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... ORPHA:169186
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Failure to thrive, Skele... OMIM:619518
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Neck flexor weakness, Ragged-red muscle fibers, Proximal... ORPHA:457050
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:615376
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... ORPHA:34516
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Proximal muscle weakness OMIM:606768
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Uppe... OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... OMIM:616924
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Dysplastic corpus callosum, ... OMIM:618276
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Dementia, Corticospinal tract atrophy, Proximal muscle weakness OMIM:551500
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Diaph... ORPHA:101081
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:610100
Adult-Onset Nemaline Myopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... ORPHA:171442
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Small hypothenar eminenc... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Ophthalmoplegia, Upper limb muscle ... OMIM:615284
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:608895
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... OMIM:300717
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness ORPHA:101078
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle flexion contracture, Dec... OMIM:611228
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... ORPHA:397744
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Mental deterioration, Proximal muscle weakness ... ORPHA:309169
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Proximal amyotroph... OMIM:610542
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Distal muscle weakness, Decreased amplitude of sensory action potentials OMIM:608673
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakne... ORPHA:353327
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal muscle weakness, Small for gestational age, Spinal muscular atrophy, Camptodactyly of fing... OMIM:604320
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Bulbar palsy, Facial palsy, Gowers sign, Decreased compound muscle action potential amplitude, Fl... OMIM:603511
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness, Progressive muscle weakness, I... OMIM:620166
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Muscle weakness, Abnormality o... ORPHA:65684
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Ankle weakne... ORPHA:100998
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Poor head control, Gowers sign, Elbow flexion contractu... ORPHA:97244
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy, Muscle weakness OMIM:616314
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... OMIM:300696
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Ophthalmoparesis, Myofibrillar myopathy, Nemaline bodies, Musc... OMIM:615348
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy, Aplasia/... ORPHA:1188
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Myopathy, Lateral ventricle dilatation, Increas... OMIM:616816
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... OMIM:600882
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... ORPHA:596
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... OMIM:160500
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... ORPHA:319514
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia ORPHA:3177
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Muscle... ORPHA:101082
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... OMIM:253601
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmoplegia, Optic atro... ORPHA:401768
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Thenar ... OMIM:270685
Childhood-Onset Nemaline Myopathy
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... ORPHA:171439
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Ankle w... OMIM:118300
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Failure to thrive, Nemaline bodies OMIM:618246
Charcot-Marie-Tooth Disease Type 4A
Distal muscle weakness, Hand muscle weakness, Decreased nerve conduction velocity, Quadriceps mus... ORPHA:99948
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers si... OMIM:617258
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... OMIM:310440
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... OMIM:301830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... OMIM:611307
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, External ophthalmoplegi... ORPHA:254886
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Muscle weakness, Hand muscle weakness OMIM:162500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... OMIM:605809
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... ORPHA:370980
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Deposi... OMIM:254130
Muscle Filaminopathy
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... ORPHA:171445
Myopathy, Distal, 3
Distal muscle weakness, Distal amyotrophy, Muscular dystrophy, Late-onset proximal muscle weaknes... OMIM:610099
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Dista... ORPHA:206594
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Achilles tendon contracture,... OMIM:300695
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Dandy-Walker malformation OMIM:607091
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Proximal muscle weak... OMIM:620389
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... OMIM:617069
Dna2-Related Mitochondrial Dna Deletion Syndrome
Progressive external ophthalmoplegia, Multiple joint contractures, Limb-girdle muscle weakness, G... ORPHA:352470
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Decreased nerve conduction velocity, Fatiguable weakness of proximal limb m... ORPHA:2932
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predomi... OMIM:619542
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... ORPHA:457205
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facial diplegia, Nec... OMIM:609285
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Uppe... ORPHA:99950
Central Core Disease
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... ORPHA:597
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Congenital Myopathy 2A, Typical, Autosomal Dominant
Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Respiratory insuffici... OMIM:161800
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Optic atrophy, Abnormality of the Achilles tendon, Abnormality of p... ORPHA:431329
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers, Abnormal cerebellum morphology OMIM:618242
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal muscle weakness, Axonal degeneration, Distal am... OMIM:614436
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction... OMIM:615368
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... OMIM:600462
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Skeletal muscle atrophy OMIM:183050
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Cognitive impairment, Muscle weakness ORPHA:2349
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Skeletal muscle atrophy, Poor head control OMIM:614932
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... OMIM:300718
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Proxi... ORPHA:99953
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive external ophthalmoplegia, Gowers sign, Ophthalmoparesis, Myopathy, Shoulder girdle mu... OMIM:615156
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Ragged-red muscle fibers, Atrophy/Degeneration involving the spinal cord... OMIM:607459
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Proximal muscle weakness OMIM:255100
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Proximal mu... OMIM:607831
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Poor head control, Cachexia, Flexion contracture, Axial muscle weakness,... ORPHA:157973
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibe... OMIM:300816
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... OMIM:157640
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib... OMIM:619473
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Ge... ORPHA:75840
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Abnormal nerve conduction velocity ORPHA:101075
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:607734
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... OMIM:620265
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Flexion contracture, Optic atrophy, Myopathy, Failure to thrive OMIM:618237
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Myopathy, Increased variabil... OMIM:125250
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... OMIM:619790
Neutral Lipid Storage Disease With Myopathy
Proximal muscle weakness, Gowers sign, Increased muscle lipid content, Myopathy, Neck muscle weak... OMIM:610717
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Intr... OMIM:616688
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Generalized mus... OMIM:612954
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... OMIM:616165
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Limb muscle... OMIM:118220
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy... OMIM:619574
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness OMIM:180800
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, ... OMIM:616239
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle... ORPHA:99013
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Gowers sign, Ragged-red muscle fibers, Limb mus... OMIM:609560
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter ORPHA:238329
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contracture, Increased... OMIM:607855
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal muscle weakness, Distal amyotrophy, Decreased distal sensory nerve action potential, Foot ... OMIM:618400
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps weakness, Ankle weakness, We... ORPHA:98913
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... OMIM:614302
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Dementia, Left ventricular hypertrophy OMIM:540000
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Optic atrophy, Abnormal nerve conduction velocity, Muscle weakness ORPHA:99014
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial connective tissue, ... OMIM:602541
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Distal... OMIM:601596
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... ORPHA:353
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Poor head control, Myopathy, Muscle weakness ORPHA:300179
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, External ophthalmo... OMIM:620351
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... ORPHA:263494
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Loss of Purkinje cells in the cerebellar vermis, Opt... ORPHA:98755
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Limb muscle... OMIM:118200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... OMIM:613157
Isolated Glycerol Kinase Deficiency
Myopathy, EEG abnormality ORPHA:408
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Intri... OMIM:614895
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Failure to thrive in infancy, External ophthalmoplegia... OMIM:619026
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Distal muscle weakness, Cachexi... ORPHA:298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Congenital Myopathy 16
Scapular winging, Distal muscle weakness, Proximal muscle weakness, Flexion contracture, Axial mu... OMIM:618524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle wea... OMIM:606612
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy OMIM:607250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... OMIM:253700
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger, Muscle weakness ORPHA:2928
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Distal muscle weakness, Axonal degeneration, Distal am... OMIM:214400
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Leber Hereditary Optic Neuropathy
Myopathy, Optic atrophy ORPHA:104
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... ORPHA:119
Dermoids Of Cornea
Corneal opacity OMIM:304730
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Fatty replacemen... ORPHA:52430
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... ORPHA:171433
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic disc pallor, Dilated fo... OMIM:164400
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Muscle weakness OMIM:615511
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... OMIM:610131
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Neuromuscular Oculoauditory Syndrome
Poor head control, Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexion c... OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Proximal muscle weakness, Achilles tendon contracture, Elbow flexion contracture, S... OMIM:608840
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Foot dorsif... OMIM:604563
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... ORPHA:2926
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Infantile Refsum Disease
Progressive muscle weakness, Failure to thrive, Optic atrophy, Facial palsy ORPHA:772
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Dist... OMIM:302800
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Generalized muscle weakness, Failure to thrive, E... OMIM:614096
Typical Nemaline Myopathy
Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weaknes... ORPHA:171436
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Proximal muscle weakness, Myopathy, Abdominal obesity, Muscular dystroph... OMIM:615980
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Progressive muscle weakness, Ragged-red muscle fibe... OMIM:607426
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... ORPHA:34515
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Abnormality of the... ORPHA:85446
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Gómez-López-Hernández Syndrome
Cognitive impairment, Corneal opacity, Ataxia ORPHA:1532
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Facial palsy, Ankle flexion contracture, ... OMIM:617519
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal mu... OMIM:145900
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Congenital diaphragmatic hernia, Progressive muscle weakness, Neurodegenerati... OMIM:615919
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Axonal degeneration, Intrinsic ... OMIM:615490
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Proximal muscle... OMIM:601455
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Poor head control, Decreased nerve conduction velocity, Corpus callosum atroph... ORPHA:565624
Myopathy, Myofibrillar, 1
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... OMIM:601419
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Distal muscle weakness, Axonal degeneration, Diaphragmatic paralysis, Pl... OMIM:620011
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ophthalmoplegi... OMIM:616479
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Atrophy/Degeneration affecting the brainstem, Abnormal nerve con... OMIM:619862
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Proximal muscle weakness, External ophthalmoplegia, G... ORPHA:3208
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Pro... OMIM:615512
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:613752
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Mental deterioration, Decreased nerve conduction velocity, Motor deterioration, Muscle weakness OMIM:249900
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Cachexia, Ragged-red muscle fibers, Generalized muscle weak... OMIM:613662
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Optic atrophy, Brain atrophy OMIM:618236
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Optic atrophy, Ophthalmoparesis, Myopathy, EEG with occipit... ORPHA:254881
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Failure to thrive, Optic atrophy ORPHA:26792
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrop... OMIM:612674
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... ORPHA:272
Krabbe Disease
Diffuse cerebral atrophy, Failure to thrive, Decreased nerve conduction velocity, Optic atrophy, ... OMIM:245200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle... ORPHA:352447
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... OMIM:619065
Congenital Myopathy 24
Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, M... OMIM:617336
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Failure to thrive ORPHA:91130
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Myopathy OMIM:613345
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Muscle weakness, Abnormal muscle fiber protein expression ORPHA:330054
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98853
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, Increased endomys... ORPHA:178148
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Progressive proximal muscle weakness, Limb-girdle muscular dystrophy, Cerebral atrophy ORPHA:369847
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cachexia ORPHA:1933
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Gowers sign, Limb-girdle musc... OMIM:613818
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Ophthalmoplegia, Optic atrop... ORPHA:320375
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrop... ORPHA:206436
Optic Atrophy 11
Optic nerve hypoplasia, EEG with focal sharp waves, Optic atrophy, Facial diplegia, Cerebellar hy... OMIM:617302
Dk1-Cdg
Progressive muscle weakness, Multifocal epileptiform discharges, Hypsarrhythmia, Failure to thriv... ORPHA:91131
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Corpus callosum atrophy, Ophthalmo... ORPHA:98673
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:162400
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Galactosialidosis
Corneal opacity ORPHA:351
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Proximal muscle weakness, R... OMIM:254090
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... ORPHA:324604
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular n... OMIM:252011
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Optic disc pallor, Tibia... ORPHA:101076
Cap Myopathy
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... ORPHA:171881
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal muscle weakness, Fatty replacement of skeletal muscle, Decreased compound muscle action po... OMIM:618279
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Dementia, Cognitive impairment, Decreased sensory nerv... OMIM:603472
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Myopathy, Muscle weakness OMIM:170400
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul... OMIM:261600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w... ORPHA:466768
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy, Muscle weakness OMIM:232400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal autonomic nervous system p... ORPHA:139578
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... OMIM:613327
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Muscle-Eye-Brain Disease
Optic atrophy, Myopathy, EEG abnormality, Cognitive impairment, Aplasia/Hypoplasia of the cerebellum ORPHA:588
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... OMIM:254210
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Sengers Syndrome
Mental deterioration, Myopathy, Generalized muscle weakness, Muscle weakness OMIM:212350
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Abnormality of the seventh cranial nerve, Upper lim... ORPHA:90117
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Progressive external ophthalmoplegia ORPHA:480
Recessive X-Linked Ichthyosis
Attention deficit hyperactivity disorder, Opacification of the corneal stroma ORPHA:461
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... OMIM:615516
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, Increased int... ORPHA:681
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph... OMIM:613561
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakness, Facial pals... ORPHA:98915
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Small for gestational age OMIM:300076
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di... OMIM:620080
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Acute rhabdomyolysis, Axonal degeneration, Cerebral at... OMIM:604168
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... OMIM:255125
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Poor head control, Facial palsy, Optic atrophy, Cerebr... OMIM:608804
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Abnormal cerebellum morphology, Lower limb amyotrophy,... OMIM:610532
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle ... OMIM:258450
Combined Oxidative Phosphorylation Defect Type 27
EEG with periodic lateralized epileptiform discharges, Ragged-red muscle fibers, Diffuse cerebell... ORPHA:477774
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Short attention span, Cerebellar atrophy OMIM:619028
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Progressive external ophthalmoplegia, Limb-girdle muscle wea... ORPHA:1215
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Flexion contracture, Hypsarrhythmia, Brain atrophy, Muscle fiber atrophy, Failure to thrive, Cere... OMIM:620240
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Distal muscle weakness, Proximal mu... OMIM:601152
Spinocerebellar Ataxia 28
Cerebellar atrophy, Lower limb hypertonia, Ragged-red muscle fibers, Ophthalmoparesis OMIM:610246
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Distal muscle weakness, Peroneal muscle atrophy, Loss ... OMIM:270550
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Failure to thrive OMIM:618234
Carnitine Deficiency, Systemic Primary
Confusion, Proximal muscle weakness, Myopathy, Reduced muscle carnitine level, Failure to thrive,... OMIM:212140
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Increased variability in muscle fiber diameter OMIM:617915
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Neck flexor weakn... ORPHA:300605
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Optic atrophy, Myopathy, Muscular dystrophy, Cerebellar hypoplasia, Musc... ORPHA:559
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, At... OMIM:602433
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Sialidosis Type 1
Decreased nerve conduction velocity, Skeletal muscle atrophy, Muscle weakness, EEG abnormality ORPHA:812
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... ORPHA:79240
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fi... ORPHA:369840
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Proximal muscle weakness OMIM:618416
Morquio Syndrome C
Corneal opacity OMIM:252300
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Progressive psychomotor deterioration, Cerebral atrophy, Myopathy, Cognitive imp... ORPHA:363400
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Ophthalmoparesis OMIM:500003
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ophthalmoplegia, Optic atrophy, Distal amyotrophy, Atrophy/Degeneration affec... OMIM:271245
Winchester Syndrome
Corneal opacity OMIM:277950
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Astigmatism, Agi... OMIM:152950
Mucolipidosis Type Iii
Corneal opacity, Cognitive impairment ORPHA:577
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Joint contracture, Optic atrophy OMIM:615419
Immunodeficiency 9
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers sign, Myopathy... OMIM:612782
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Arts Syndrome
Progressive muscle weakness, Optic atrophy OMIM:301835
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Null Syndrome
Decreased nerve conduction velocity, Abnormal cerebellum morphology, Optic atrophy, Abnormality o... ORPHA:280234
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Generalized muscle weakness, Optic atrop... OMIM:256600
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Lymphadenopathy ORPHA:79292
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cachexia, Proximal muscle weakness, Fatigable weakness, Myopathy, Distal... ORPHA:42
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154275
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal upper limb muscle weakn... OMIM:613640
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Progressive muscle weakness, EEG with generalized epile... ORPHA:488632
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Mitochondrial Dna Depletion Syndrome 11
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers,... OMIM:615084
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy, Muscle weakness ORPHA:166002
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Muscle weakness OMIM:300653
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Flexion contracture, Cerebral atrophy OMIM:619851
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebellar vermis hypoplasia, Ankle flexion contracture, Respiratory insufficiency due to muscle ... OMIM:619461
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Ophthalmoparesis, Mental deterior... ORPHA:1349
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154276
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Torticollis OMIM:613724
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Decreased sensory nerve conduction velocity, Distal muscle weakness, Opt... OMIM:609033
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma, Progressive neurologic deterioration OMIM:252650
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Optic disc pallor, Dandy-Walker malformation OMIM:617235
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia... ORPHA:411515
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy OMIM:616549
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Progressive muscle weakness, Increased ... ORPHA:264580
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Failure to thrive, Cerebral cortical atrophy, Confusion OMIM:238970
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Cachexia, ... OMIM:618186
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Myopathy, Brain atrophy, Increased variability in muscle fi... OMIM:604377
Danon Disease
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... OMIM:300257
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ophthalmoplegia, Ophthalmoparesis, Fatigable weakness, Myopathy, Muscle flaccidity, Oculomotor ne... ORPHA:257
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Failure t... ORPHA:456312
Neutral Lipid Storage Disease With Ichthyosis
Progressive proximal muscle weakness, Obesity, Central nervous system degeneration, Myopathy, Sho... ORPHA:98907
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Fatigable weakness of skeletal muscles, Fatty replacemen... ORPHA:1320
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Ragged-red muscle fibers, Increased variability in muscle fiber diamete... ORPHA:70595
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Distal amyotrophy, Decreas... OMIM:256840
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Cerebral cortical atrophy, Acute rhabdomyolysis, Abnormality of peripher... ORPHA:48431
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... ORPHA:90658
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... OMIM:164310
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Distal muscle weakness, Failure to thrive in infancy, Decreased nerve conduction velocity, Distal... ORPHA:477817
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy, EEG abnormality ORPHA:85329
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Social and oc... ORPHA:98818
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Proximal muscle weakness, ... OMIM:616720
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Failure to thrive, Cerebellar atrophy OMIM:618356
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Attention deficit hyperactivity disorder ORPHA:281090
Axial Osteomalacia
Myopathy, Proximal muscle weakness OMIM:109130
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Cerebellar atrophy OMIM:159550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory insufficiency due ... ORPHA:365
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... OMIM:614170
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Flexion contracture, Ophthalmoparesis, Skeletal muscle hypertrophy, Myop... ORPHA:682
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... OMIM:616866
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, External ophthalmople... ORPHA:485421
Poliomyelitis
Skeletal muscle atrophy, Bulbar palsy, Confusion, Hypoplasia of the musculature, Abnormal motor n... ORPHA:2912
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Semantic dementia, Memory impairment, Cerebral cortical atrophy, Deposits im... ORPHA:1020
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... ORPHA:367
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... OMIM:620278
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Distal muscle weakness, Progressive muscle weakness, Hepatocellular necr... OMIM:256810
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Short attention span, Optic disc pallor, Abnormal cerebellar peduncle morphol... ORPHA:909
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Agenesis of corpus callosum, Abnormal muscle... OMIM:175700
Melas
Short attention span, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Optic atrop... ORPHA:550
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Muscle weakness ORPHA:713
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Flexion con... OMIM:615663
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Progressive cerebellar ataxia, Dementia ORPHA:248111
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Facial palsy, External ophthalmoplegia, Quadriceps muscle weakness, Ophthalmo... ORPHA:254892
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Chanarin-Dorfman Syndrome
Myopathy, Muscle weakness OMIM:275630
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Sialidosis Type 2
Splenomegaly, Corneal opacity, Ataxia ORPHA:87876
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal upper limb muscle weakness, Distal lo... OMIM:500013
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Rhabdomyolysis, Generalized muscle weakness, Myopathy, Failure to thrive OMIM:609015
Adrenomyodystrophy
Myopathy, Failure to thrive ORPHA:977
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral atrophy, Cognitive impair... OMIM:616192
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial necrosis, Muscle fiber a... ORPHA:228302
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Cerebellar atrophy, Cerebellar gliosis, Flexion ... ORPHA:35069
Xp21 Deletion Syndrome
Decreased muscle mass, Confusion, Calf muscle hypertrophy, Myopathy, Agenesis of corpus callosum ORPHA:261476
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Myopathy, Limb mu... OMIM:112250
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Bulbar palsy, Poor head control, Proximal muscle weakness, Int... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Bulbar palsy, Poor head control, Proximal muscle weakness, Int... ORPHA:98914
Hereditary Sensory And Autonomic Neuropathy Type 1
Foot dorsiflexor weakness, Distal muscle weakness, Distal amyotrophy, Abnormality of the autonomi... ORPHA:36386
Cednik Syndrome
Poor head control, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:66631
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Proximal muscle weakness, Gowers sign, Increased variability in muscle fiber d... ORPHA:502423
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Rhabdomyolysis, Muscle weakness, Dandy-Walker malformation ORPHA:228305
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Confusion, Ataxia, Hepatosplenomegaly ORPHA:309288
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... ORPHA:171430
Congenital Myopathy 21 With Early Respiratory Failure
EMG: myopathic abnormalities, Brain atrophy, Diaphragmatic weakness OMIM:620326
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Dementia, Cerebellar atrophy OMIM:603516
Hypotonia-Cystinuria Syndrome
Failure to thrive, Ragged-red muscle fibers, Facial palsy, Muscle weakness OMIM:606407
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
External ophthalmoplegia, Flexion contracture, Myopathy, Weakness of facial musculature, Failure ... OMIM:201470
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities, Ophthalmoplegia, Muscle weakness ORPHA:457365
Harel-Yoon Syndrome
Inability to walk, Corneal opacity, Ataxia, Developmental cataract OMIM:617183
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Distal muscle weakness, Aganglionic megacolon, ... OMIM:609136
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Leigh Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Distal muscle weakness,... ORPHA:506
Acyl-Coa Dehydrogenase 9 Deficiency
Generalized muscle weakness, Fatigable weakness, Myopathy, EMG: myopathic abnormalities, Failure ... ORPHA:99901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hypoplasia of the pons, Flexion contracture, Optic atrophy, Lateral ventricle dilatation, Muscula... OMIM:613154
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity, Abnormality of the tonsils ORPHA:93476
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Cerebellar atrophy, Failure to thrive, Distal muscle w... ORPHA:99949
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Progressive external ophthalmoplegia OMIM:613077
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial palsy, Paucity of ante... ORPHA:79139
Scleromyxedema
Distal muscle weakness, Proximal muscle weakness, Abnormal skeletal muscle morphology, Myopathy, ... ORPHA:167635
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Distal muscle weakness, Facial palsy, Hypoplasia of the musculature, Pro... OMIM:254940
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl... OMIM:235400
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Ophthalmoparesis, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, EEG abnormality OMIM:619173
Cystinosis
Myopathy, Failure to thrive, Muscle weakness ORPHA:213
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Rhabdomyolysis, Renal tubular epithelial necrosis, Myopathy, Agenes... ORPHA:157
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:615595
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Proximal muscle weakness, Type 2 m... OMIM:619743
Glycogen Storage Disease Xv
Scapular winging, Muscle weakness, Type 1 muscle fiber predominance OMIM:613507
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Neck flexor weakness, Abdominal wall mu... ORPHA:263297
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen OMIM:274150
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Distal muscle weakness, Abnormality of peripheral nerve conduction ORPHA:168563
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Neurodegeneration, Muscle weakness, Foot dorsiflexor weakness OMIM:214500
Leber Optic Atrophy
Myopathy, Optic atrophy, Optic neuropathy OMIM:535000
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglossia, Congenital contr... OMIM:613150
Metachromatic Leukodystrophy, Adult Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309271
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Ataxia, Dysmetria, Hepatosplenomegaly, Dysphagia, Loss of ambulation ORPHA:93399
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting OMIM:611881
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Aplasia/... ORPHA:1358
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Decreased nerve conduction velocity, Optic atrophy, Progressive psychomotor... ORPHA:309263
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Immunodeficiency 10
Myopathy OMIM:612783
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... OMIM:612949
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Decreased muscle mass, Decreased nerve conduction velocity, Corpus callosum a... OMIM:261515
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... OMIM:223900
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Progressive distal muscle weakness, Rhabdomyolysis, Generalized mus... ORPHA:746
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Splenomegaly, Cataract, Corneal opacity ORPHA:290
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Muscle weakness OMIM:232800
Metachromatic Leukodystrophy
Mental deterioration, Bulbar palsy, Decreased nerve conduction velocity, Optic atrophy OMIM:250100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Intercostal muscle weakness, Flexion contrac... ORPHA:258
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Poor head control, Cerebellar vermis hypoplasia, Muscular dystrophy, Increased variability in mus... OMIM:616538
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness, Dementia OMIM:530000
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Dysplastic corpus callosum, Ophthalmoplegia, Ragged-red muscle fibers, Failure... OMIM:614924
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Distal muscle weakness, Distal amy... OMIM:606002
Chylomicron Retention Disease
Myopathy, EMG: myopathic abnormalities, Failure to thrive ORPHA:71
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Friedreich Ataxia
Hand muscle atrophy, Decreased motor nerve conduction velocity, Optic atrophy, Cervical spinal co... ORPHA:95
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Corneal opacity OMIM:166300
Mcleod Syndrome
Myopathy, Rhabdomyolysis, Muscle weakness OMIM:300842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, EEG with burst suppression, Progressive external ophthalm... OMIM:617713
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Ophthalmoparesis, Episodi... ORPHA:79102
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Alpha-Mannosidosis
Splenomegaly, Cataract, Corneal opacity ORPHA:61
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Cockayne Syndrome Type 1
Cataract, Ataxia, Gait disturbance, Conjunctivitis, Difficulty walking, Increased blood urea nitr... ORPHA:90321
Carcinoid Syndrome
Myopathy, Hepatic necrosis ORPHA:100093
Usher Syndrome
Aplasia/Hypoplasia of the cerebellum, Myopathy, Cerebral cortical atrophy, Cognitive impairment ORPHA:886
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Self-injurious behavior, Cognitive impairment, Opacification of the cornea... OMIM:601853
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Caribbean Parkinsonism
Orthostatic hypotension, Frontal lobe dementia, Dementia, Abnormal autonomic nervous system physi... ORPHA:97355
Wagro Syndrome
Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph... OMIM:612469
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... ORPHA:168491
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Oculomaxillofacial Dysostosis
Corneal opacity, Cognitive impairment ORPHA:1794
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Bulbar palsy, Confusion, Facial palsy, Ophthalmoplegia... ORPHA:79138
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Ragged-red muscle fibers,... OMIM:603041
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... ORPHA:99845
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
EEG with burst suppression, Type 1 muscle fiber atrophy, Cerebral atrophy, Hypsarrhythmia, Type 2... OMIM:619036
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities ORPHA:684
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Proximal muscle weakness, Muscle fiber splitting OMIM:606408
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Spastic gait, Gait ataxia ORPHA:496790
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... ORPHA:43
Choreoacanthocytosis
Bradyphrenia, Short attention span, Caudate atrophy, Distal muscle weakness, Peroneal muscle atro... ORPHA:2388
Mucopolysaccharidosis Type 3
Hyperactivity, Cataract, Corneal opacity, Ataxia, Progressive neurologic deterioration, Adenoidit... ORPHA:581
Polymyositis
Weight loss, Proximal muscle weakness, Abnormal muscle fiber morphology ORPHA:732
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Wolfram Syndrome
Ophthalmoplegia, Optic atrophy, Myopathy, Dementia, Abnormal autonomic nervous system physiology,... ORPHA:3463
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Poor head control, Patent ductus arteriosus, Myopathy, Type 1 muscle fib... OMIM:614557
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Gm1 Gangliosidosis
Corneal opacity, Ataxia, Splenomegaly, Unsteady gait, Hepatosplenomegaly, Gait disturbance, Cogni... ORPHA:354
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Multiple Sulfatase Deficiency
Splenomegaly, Rapid neurologic deterioration, Corneal opacity, Ataxia OMIM:272200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Multiple Sulfatase Deficiency
Splenomegaly, Rapid neurologic deterioration, Cataract, Corneal opacity ORPHA:585
Cockayne Syndrome A
Cerebellar atrophy, Hip contracture, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Xanthinuria, Type I
Myopathy OMIM:278300
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Stormorken Syndrome
Myopathy, Proximal muscle weakness OMIM:185070
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Cerebral cortical atrophy OMIM:614922
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Myopathy, Cerebellar hypoplasia, Agenesis o... OMIM:243605
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating guanosine concentration, Ataxia, Splenomegaly, Lymph node hyp... OMIM:613179
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity OMIM:201300
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, EEG with focal epileptiform discharges,... ORPHA:1187
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, EEG abnormality, ... ORPHA:371364
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology ORPHA:357058
Snakebite Envenomation
Respiratory paralysis, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Mucolipidosis Type Iv
Gait disturbance, Corneal opacity, Ataxia ORPHA:578
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Failure to thrive OMIM:616652
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Ataxia, Dysmetria, Developmental cataract, Hepatosplenomegaly ORPHA:93400
Cockayne Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Cachexia, Decreased nerve conduct... ORPHA:191
Myotonic Dystrophy 2
Neck flexor weakness, Proximal muscle weakness, Generalized amyotrophy, Weakness of facial muscul... OMIM:602668
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Abdominal wall muscle weakness, Cachexia, Myopathy, Muscle weakness ORPHA:109
Scheie Syndrome
Corneal opacity OMIM:607016
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid concentra... ORPHA:139396
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Gm1-Gangliosidosis, Type Iii
Ataxia, Opacification of the corneal stroma OMIM:230650
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Wilson Disease
Aggressive behavior, Splenomegaly, Hypersexuality, Kayser-Fleischer ring, Difficulty walking ORPHA:905
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Axonal degeneration, Flexion contracture of finger, Abnormal sensory nerve conduction velocity, C... ORPHA:88628
Chédiak-Higashi Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity, Atrophy of the spinal cord, Dementia, Br... ORPHA:167
Wilson Disease
Decreased nerve conduction velocity, Limb muscle weakness, Dementia OMIM:277900
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Muscle weakness OMIM:617675
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Barth Syndrome
Gowers sign, Skeletal myopathy, Failure to thrive OMIM:302060
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Abnormal temper t... ORPHA:163681
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein ... ORPHA:49041
Mucopolysaccharidosis Type 2
Short attention span, Papilledema, Progressive neurologic deterioration, Decreased nerve conducti... ORPHA:580
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Zellweger Syndrome
Cataract, Corneal opacity, Brushfield spots, Cognitive impairment, Posterior embryotoxon ORPHA:912
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Optic atrophy, Myopathy, Dementia, Neurodegeneration, Mental deterioration... OMIM:234200
Dyggve-Melchior-Clausen Disease
Hyperactivity, Corneal opacity, Inability to walk, Diminished ability to concentrate, Difficulty ... ORPHA:239
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Pseudoachondroplasia
Skeletal myopathy ORPHA:750
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Short attention span, Optic disc pallor, Facial hypotonia, Confusion, Macrogl... ORPHA:309282
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Muscle weakness ORPHA:309256
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction ORPHA:101005
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Short attention span, Patent ductus arteriosus, Ragged-red muscle fibers... ORPHA:17
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal tempe... ORPHA:449291
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... ORPHA:206572
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle... ORPHA:800
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Failure to thrive in infancy, Myopathy OMIM:618975
Cockayne Syndrome B
Small for gestational age, Cerebellar calcifications, Abnormal auditory evoked potentials, Decrea... OMIM:133540
Musculocontractural Ehlers-Danlos Syndrome
Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy, Muscle weakness ORPHA:2953
Familial Dysautonomia
Hyponatremia, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal erosion, Gait disturban... ORPHA:1764
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Cognitive impairment ORPHA:2549
Hurler Syndrome
Corneal opacity, Progressive neurologic deterioration, Splenomegaly, Enlarged tonsils, Hepatosple... OMIM:607014
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Generalized muscle weakness, Elbow flexion contracture, EMG: myopathic abn... ORPHA:1900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Cerebellar atrophy, Optic atrophy OMIM:610651
Mucopolysaccharidosis Type 4
Cognitive impairment, Corneal opacity, Gait disturbance ORPHA:582
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... ORPHA:31150
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... ORPHA:280365
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Dementia, Muscle weakness ORPHA:512
Hereditary Xanthinuria
Myopathy ORPHA:3467
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity OMIM:608747
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy, Weight loss ORPHA:85450
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Scheie Syndrome
Splenomegaly, Corneal opacity ORPHA:93474
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:301056
Sanjad-Sakati Syndrome
Myopathy ORPHA:2323
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Vici Syndrome
Cerebellar vermis hypoplasia, Myopathy, Left ventricular hypertrophy, Failure to thrive, Agenesis... OMIM:242840
Multiple Endocrine Neoplasia, Type Iib
Myopathy, Aganglionic megacolon, Failure to thrive in infancy OMIM:162300
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Incontinentia Pigmenti
Cataract, Corneal opacity, Keratitis, Gait disturbance, Attention deficit hyperactivity disorder,... ORPHA:464
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Farber Disease
Corneal opacity, Lymphadenopathy, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacificat... ORPHA:333
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Lowry-Maclean Syndrome
Developmental glaucoma, Megalocornea, Corneal opacity ORPHA:2409
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Poor head control, Optic neuropat... OMIM:252010
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy OMIM:115197
Tyrosinemia Type 2
Corneal opacity, Ataxia ORPHA:28378
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Hurler-Scheie Syndrome
Splenomegaly, Corneal opacity OMIM:607015
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy ORPHA:79086
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Glycerol Kinase Deficiency
Myopathy, Small for gestational age, Muscular dystrophy OMIM:307030
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Iris hypopigmentation ORPHA:2719
Hurler Syndrome
Abnormal nerve conduction velocity, Macroglossia, Camptodactyly of finger ORPHA:93473
Mucopolysaccharidosis Type 6
Cognitive impairment, Splenomegaly, Opacification of the corneal stroma ORPHA:583
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Corneal opacity, Bone marrow hypocellularity ORPHA:1830
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Corneal dystrophy, Aggressive behavior, Buphthalmos, Keratocon... ORPHA:495875
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Congenital Disorder Of Deglycosylation 1
Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng... OMIM:615273
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Abetalipoproteinemia
Myopathy, Failure to thrive, Distal lower limb muscle weakness, Ophthalmoplegia ORPHA:14
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Corneal opacity, Astigmatism, Gait disturbance, Attention deficit hyperactivity disorder, Abnorma... ORPHA:464311
Mucopolysaccharidosis, Type Ivb
Ataxia, Corneal opacity, Opacification of the corneal stroma OMIM:253010
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem... ORPHA:324
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive in infancy, Progressive neurologic deterioration, Cere... OMIM:219800
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Mucopolysaccharidosis Type 7
Splenomegaly, Corneal opacity ORPHA:584
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Myopathy, Patent ductus arteriosus, Failure to thrive OMIM:612541
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... ORPHA:423
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Progressive neurologic deterioration, Flexion contrac... ORPHA:90324
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, S... ORPHA:534
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, EEG with burst suppression, Myopathy OMIM:261740
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Rhabdomyolysis, Ragged-red muscle fibers, Cerebral atrophy, EEG abnormality, ... OMIM:124000
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Corneal crystals, Abnormal cornea morphology, Hypokalemia, Cogn... ORPHA:411629
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Cognitive impairment, Iris coloboma ORPHA:2092
1P36 Deletion Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Optic atrophy, Obesity, Myopathy, EEG abnormal... ORPHA:1606
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Optic atrophy, Ophthalmoparesis, Failure to thrive, Muscle weakness ORPHA:255210
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
EMG: myopathic abnormalities, Optic atrophy, Acute rhabdomyolysis, Global brain atrophy ORPHA:480864
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Conjunctival icterus, Dysphagia, Unconjugated hyperbilirubinemia, Increased... ORPHA:447
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy, Muscle weakness ORPHA:536545
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... OMIM:612582
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Hypoplasia of the thymus, Opacification of the corneal stroma, Elevat... OMIM:214110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... OMIM:236670
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Corneal opacity, Astigmatism, Gait disturbance, Abnormal repetitive mannerisms ORPHA:464306
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Hyperargininemia, Spastic gait OMIM:207800
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Microform Holoprosencephaly
EMG: myopathic abnormalities, Agenesis of corpus callosum ORPHA:280200
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy OMIM:614863
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Mucopolysaccharidosis Type 1
Splenomegaly, Corneal opacity, Abnormality of the tonsils ORPHA:579
De Barsy Syndrome
Athetosis, Cataract, Corneal opacity, Progressive cerebellar ataxia ORPHA:2962
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mucopolysaccharidosis, Type Vii
Splenomegaly, Corneal opacity OMIM:253220
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Gait disturbance OMIM:259600
Neurofibromatosis Type 1
Cataract, Corneal opacity, Ataxia, Attention deficit hyperactivity disorder, Lisch nodules, Memor... ORPHA:636
Mosaic Trisomy 9
Asplenia, Corneal opacity ORPHA:99776
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Mucopolysaccharidosis Type 2, Attenuated Form
Short attention span, Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Increa... ORPHA:217093
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Fucosidosis
Corneal opacity ORPHA:349
Pseudo-Torch Syndrome 1
Splenomegaly, Cataract, Opacification of the corneal stroma OMIM:251290
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatosplenomegaly, Increased size of nasopharyn... ORPHA:217085
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism OMIM:252600
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature, Tendon... ORPHA:285
Moebius Syndrome
Corneal opacity, Dysphagia ORPHA:570
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Corneal opacity, Splenomegaly, Abnormality of the spleen, Limb ataxia, Hepatosp... ORPHA:2072
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... ORPHA:411634
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Brushfield spots, Unsteady gait, Opacification of the corneal stroma, Dysphagia, Loss o... OMIM:214100
Oculoectodermal Syndrome
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid OMIM:600268
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Brushfield spots, Splenomegaly, Conjugated hyperbilirubinemia, Elevated circulating phy... OMIM:614866
Carpenter Syndrome 1
Microcornea, Opacification of the corneal stroma, Polysplenia OMIM:201000
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Fryns Syndrome
Corneal opacity ORPHA:2059
Dermatomyositis
Inflammatory myopathy, Proximal muscle weakness, Weight loss ORPHA:221
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma ORPHA:536471
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Gaucher Disease
Ataxia, Corneal opacity, Elevated circulating C-reactive protein concentration, Splenomegaly, Dys... ORPHA:355
Schimke Immunoosseous Dysplasia
Waddling gait, Astigmatism, Opacification of the corneal stroma OMIM:242900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Williams Syndrome
Abnormal circulating lipid concentration, Flat cornea, Corneal opacity, Cataract, Hypercalcemia, ... ORPHA:904
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Flexion contracture, Myopathy ORPHA:3042
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat... OMIM:175780
Mucopolysaccharidosis, Type Vi
Splenomegaly, Corneal opacity OMIM:253200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia ORPHA:79396
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Self-injurious behavior, Elevated circulating 7-dehydrocholesterol concen... ORPHA:818
3Mc Syndrome 3
Corneal opacity OMIM:248340
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Histiocytoid Cardiomyopathy
Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Galloway-Mowat Syndrome 1
Cataract, Ataxia, Hypoplasia of the iris, Hypoalbuminemia, Opacification of the corneal stroma OMIM:251300
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Ataxia, Keratitis, Opacification of the corneal stroma, Co... ORPHA:910
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Hepatosplenomegaly OMIM:274000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Dementia, Mental deteri... ORPHA:2273
Mucopolysaccharidosis, Type Iva
Waddling gait, Opacification of the corneal stroma OMIM:253000
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Kindler Epidermolysis Bullosa
Conjunctivitis, Dysphagia, Corneal opacity ORPHA:2908
Meckel Syndrome
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris ORPHA:564
Digeorge Syndrome
Sclerocornea, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, A... OMIM:188400
Lathosterolosis
Cataract, Hepatosplenomegaly, Abnormal circulating cholesterol concentration, Hyperbilirubinemia,... OMIM:607330
Osteogenesis Imperfecta
Ataxia, Corneal opacity, Gait disturbance, Dysphagia, Loss of ambulation ORPHA:666
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Iris coloboma, Sclerocornea, Peters anomaly OMIM:309801
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Splenomegaly, Tip-toe gait, Opacification of the corneal str... OMIM:252500
Gaucher Disease, Type Iiic
Splenomegaly, Opacification of the corneal stroma OMIM:231005
Larsen Syndrome
Corneal opacity OMIM:150250
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Microphthalmia With Linear Skin Defects Syndrome
Posterior embryotoxon, Corneal opacity, Sclerocornea ORPHA:2556
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea OMIM:300952
Lathosterolosis
Microcornea, Cataract, Opacification of the corneal stroma ORPHA:46059
Chime Syndrome
Corneal opacity ORPHA:3474
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Ataxia, Hypertriglyceridemia, Confusion, Truncal ataxia ORPHA:3455
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Wolf-Hirschhorn Syndrome
Megalocornea, Ataxia, Iris coloboma, Sclerocornea ORPHA:280
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Dysphagia OMIM:601559
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae ORPHA:709
Fraser Syndrome 1
Abnormal thymus morphology, Corneal opacity OMIM:219000
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Limb Body Wall Complex
Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Tendon rupture, Muscle weakness, Decreased body weight OMIM:182250
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Hutchinson-Gilford Progeria Syndrome
Corneal ulceration, Corneal opacity, Shuffling gait ORPHA:740
Proteus Syndrome
Myofibrillar myopathy, Decreased muscle mass, Cachexia ORPHA:744
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... OMIM:253280
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma OMIM:268300
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Short attention span, Abnormality of peripheral nerv... ORPHA:642
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea OMIM:619869
Fryns Syndrome
Opacification of the corneal stroma, Polysplenia OMIM:229850
Yunis-Varon Syndrome
Cataract, Sclerocornea ORPHA:3472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Friedreich Ataxia 2
Abnormal medulla oblongata morphology, Abnormality of peripheral nerve conduction OMIM:601992
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Yunis-Varon Syndrome
Cataract, Sclerocornea OMIM:216340
Triple A Syndrome
Abnormality of the calf musculature, Optic atrophy, Abnormality of the hypothenar eminence ORPHA:869
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Ataxia, Dysphagia OMIM:615510

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 Gmppa

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 Gmppa.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation. The Journal of clinical investigation (May 2021) Gmppatm1a(EUCOMM)Wtsi 33755596

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gmppatm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gmppaem1(IMPC)Tcp Inter-exon deletion Mice

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