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Gene: Fkrp MGI:2447586

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
fukutin related protein
Synonyms:
LGMD1I,  MDC1C,  A830029B19Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fkrp 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 Fkrp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Type II lissencephaly, Death in childhood, Agenesis of corpus callosum, R... OMIM:613153
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Megalocornea, Type II lissencephaly, Agenesis of... ORPHA:370959
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Ventriculomegaly, Cerebellar atrophy, Mildly elevated creatine kinase, Cerebe... ORPHA:370980
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Agenesis of corpus callosum,... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, Shoulder girdle muscl... OMIM:606612
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebellar vermis hypoplasia, Pigmentary retinopathy, Cerebral ... ORPHA:370968
Muscle-Eye-Brain Disease
Cataract, Optic atrophy, Myopathy, Elevated circulating creatine kinase concentration, Aplasia/Hy... ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... OMIM:607155

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Type II lissencephaly, Death in childhood, Agenesis of corpus callosum, R... OMIM:613153
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Megalocornea, Type II lissencephaly, Agenesis of... ORPHA:370959
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissen... OMIM:615181
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Myopathy, Distal, With Anterior Tibial Onset
Myopathy OMIM:606768
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Muscular dystrophy, Hypoplasia of the brainstem, Cerebellar dysplas... OMIM:613155
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Weakness of facial musculature, Angulated muscle fibers, Shoulder girdle muscle... OMIM:619477
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Type II lissencephaly, Encephalocele, Hypoplasia of the corpus callosum, Death in childhood, Reti... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Ventriculomegaly, Type II lissencephaly, Cerebellar hypoplasia, Hydrocephalus... OMIM:614830
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... OMIM:500002
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy OMIM:614369
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Ventriculomegaly, Cerebellar atrophy, Mildly elevated creatine kinase, Cerebe... ORPHA:370980
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Muscular dystrophy, Abnormally large globe, Hypoplasia of the brainstem, Type II lissen... OMIM:615249
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy OMIM:616471
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy, Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Cerebellar ... ORPHA:324416
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Muscular dystrophy, Ventriculomegaly, Hypoplasia of the pons, Elevated circulating... OMIM:613151
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Muscular dystrophy, Retinal dysplasia, Increased endomysial connective tissue, Pos... OMIM:613154
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Anophthalmia, Agenesis of corpus callosum,... ORPHA:899
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers OMIM:616209
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Cataract, Quadriceps muscle weakn... OMIM:608810
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainstem OMIM:618266
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Optic... ORPHA:401768
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Muscular dystrophy, Retinal dysplasia, Optic atrophy, Ventriculomegaly, Camptodactyly o... ORPHA:272
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Retinal detachment, Microphtha... OMIM:253800
Chudley-Mccullough Syndrome
Ventriculomegaly, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydroc... OMIM:604213
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Hypoplasia of the brainstem, Elbow flexion con... OMIM:608840
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Decreased comp... OMIM:603511
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Megalocornea, Type II lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:236670
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Cerebellar vermis hypoplasia,... OMIM:616538
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Foot dorsiflexo... OMIM:619216
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... ORPHA:399081
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Generalized muscle weakness, Proximal muscle weakness, Proximal amyotrophy, Shoulder girdle muscl... OMIM:606612
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Muscular dystrophy, Pigmentary retinopathy, Cerebral cortical atrop... OMIM:613156
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract, Muscular dystrophy, Hypoplasia of the pons, Elevated circulating creatine kinase concen... OMIM:615350
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Exuda... OMIM:158900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Calf muscle hyper... OMIM:611307
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus ORPHA:2703
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Abnormal cortical gyration, Increased endomysial connective tissue, Elevated ... OMIM:607855
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degene... ORPHA:77299
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... OMIM:609284
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Type II lissencephaly, Encephalocele, Agenesis of... OMIM:613150
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle... OMIM:615352
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance OMIM:614807
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Muscle fibe... OMIM:300718
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy OMIM:615348
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... OMIM:607596
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal a... OMIM:619473
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... OMIM:610687
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated cir... OMIM:604801
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contracture, Muscle fibe... OMIM:613205
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... ORPHA:267
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... OMIM:616052
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Claw hand deformity, Optic... OMIM:618511
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration... OMIM:613818
Optic Atrophy 11
Increased variability in muscle fiber diameter, Optic atrophy, Ventriculomegaly, Cherry red spot ... OMIM:617302
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Dila... ORPHA:171680
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Abnormal brainstem morp... ORPHA:300573
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Elevated circulating creatine kinase concentration, Microcephaly, Limb-girdle... OMIM:609308
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... ORPHA:119
Myopathy, Myofibrillar, 6
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... OMIM:612954
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Distal upper limb muscle weakness, Quadriceps muscle weakness, Elevated circu... OMIM:613319
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Polymicrogyria, Decreased body weight, Dysplastic corpus callosum, Agenesis o... OMIM:614833
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... ORPHA:597
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Abnormal brainstem morp... ORPHA:370997
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotr... OMIM:604286
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Optic atrophy, Distal amyotrophy, Knee flexion contracture, Muscle wea... OMIM:615043
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Global brain atrophy, Skeletal muscle atrophy, Hypoplasia of the pons, Cerebellar atrophy, Failur... OMIM:618276
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract, Muscular dystrophy, Generalized limb muscle atrophy, Elevated circulating creatine kina... OMIM:615351
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... ORPHA:97244
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy, Elbow flexion contra... OMIM:181350
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... OMIM:601287
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Generalized muscle weakness, Proxi... OMIM:255310
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Myopathy, Generalized amyotrophy OMIM:618323
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi... OMIM:255160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:613723
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... ORPHA:397744
Cach Syndrome
Cataract, Optic atrophy, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cere... ORPHA:135
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida o... OMIM:618736
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Muscle weakness, Lower limb amyotrophy, Hand muscle atrophy OMIM:615658
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypopla... OMIM:614219
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Abnormal circ... ORPHA:369840
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Retinal hemorrhage, Death in ... OMIM:615368
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... OMIM:619903
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Optic atrophy, Failure to thrive, Abnormal macular... OMIM:608799
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, P... OMIM:619302
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Elevated circulating creatine kinase concentration, Proximal muscle weakness,... ORPHA:62
Lissencephaly 8
Cataract, Optic atrophy, Ventriculomegaly, Skeletal muscle atrophy, Occipital encephalocele, Hypo... OMIM:617255
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele, Microphthalmia, Lissen... OMIM:218670
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Neck muscle weakness, Proximal muscle weakness, Elevated circulating creatine... OMIM:612998
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Elevated circulating creatine kinase co... OMIM:611588
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Proximal muscle weakness, Axial muscle w... OMIM:255200
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel... OMIM:158901
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Cerebellar ... OMIM:248800
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... ORPHA:1532
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness, Gowers sign, Elevated circulating creatine kinas... OMIM:616094
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atroph... OMIM:616171
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Dandy-Walker Syndrome
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... OMIM:220200
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Hypoplasia of the pons, Failure to thrive, Hypoplasia of the corpus callosum, Chiari ty... OMIM:620157
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... OMIM:617258
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... OMIM:615959
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, F... ORPHA:1528
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, External ophthalmoplegia, Cerebellar atrophy, Sensory axonal neuropathy, Cerebral ... ORPHA:254886
Lissencephaly 1
Ventriculomegaly, Pachygyria, Hypoplasia of the brainstem, Secondary microcephaly, Cerebellar hyp... OMIM:607432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Megalocornea, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Generalized muscl... OMIM:253280
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Cataract, Skeletal mus... ORPHA:559
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... OMIM:256030
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Asparagine Synthetase Deficiency
Dilated third ventricle, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar ve... OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Generalized muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613152
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spinal muscular ... ORPHA:496756
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Elevated circulating creatine kin... OMIM:616827
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Cerebellar vermis hypoplasia, Pigmentary retinopathy, Cerebral ... ORPHA:370968
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Hydrocephalus, Hypoplasia of the brainstem ORPHA:352682
Stromme Syndrome
Cataract, Microcornea, Cerebellar vermis hypoplasia, Peters anomaly, Retinal vascular tortuosity,... OMIM:243605
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle weakness, Elevated circulating creatine... OMIM:300376
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cerebellar vermis hypoplasia, Hyposerinemia, Lateral ventricle dilatat... ORPHA:284417
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Increased CSF l... ORPHA:79243
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Abnor... OMIM:614399
Leber Hereditary Optic Neuropathy
Myopathy ORPHA:104
Martsolf Syndrome 2
Cataract, Lateral ventricle dilatation, Camptodactyly of finger, Hypoplasia of the corpus callosu... OMIM:619420
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Foot dorsiflexor weakness, Proximal muscle weakness, Peripheral axonal neuropathy,... OMIM:617087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Cerebral atrophy, Increased CSF lactate, Decreased nerve conduction... ORPHA:565624
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... OMIM:619542
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Cerebellar atrophy, Peripheral axonal neuropathy, Corneal opacity, Lower... ORPHA:496790
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154275
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy OMIM:602541
Dpm1-Cdg
Optic atrophy, Muscular dystrophy, Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cereb... ORPHA:79322
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Proximal muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentration,... OMIM:613158
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, External ophthalmoplegia, Myopathy, Generalized m... OMIM:607459
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy ORPHA:352470
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Failure to thrive, Neck muscle weakness, Increased... OMIM:500009
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Retinal dysplasia, Occipital encephalocele, Ventriculomegaly, Hypoplasia of t... OMIM:615287
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Elevated circulating ribitol concentration, Increased CSF ribitol concentration, I... OMIM:608611
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Polymicrogyria, Peri... OMIM:611603
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Extra-axial cerebrospinal fluid accumula... OMIM:618291
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:253600
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Myopathy, Skeletal muscle hypertrophy ORPHA:2349
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Hypoplasia of the olfactory bulb, Lateral ventricle dilatation, Hyp... ORPHA:300570
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Hypoplasia of the corpus callosum, Distal l... ORPHA:468661
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Tremor, Microcephaly, Hydrocephalus, Simplified gyral p... OMIM:619470
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Intrinsic hand... ORPHA:329478
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154276
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Punctate keratitis... OMIM:226670
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Ventriculomegaly, Cerebral cortical atrophy, Chorioretinal coloboma, Olivopontocer... ORPHA:2732
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Abnormally large globe, Hypoplasia of the pons, Hypoplasia of the brainstem, Retinal coloboma, Di... OMIM:300749
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Failure t... OMIM:619518
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Super... OMIM:617622
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Optic nerve hypopl... OMIM:618890
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Death in infancy, Microcephaly, Hyperala... OMIM:617668
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensory axonal neuropathy, Quadriceps muscle weakness, Hand tremor, Hand muscle we... ORPHA:99947
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling, Lateral ventricle dilatation, Periventricular hete... OMIM:614105
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Proximal muscle weakness, R... OMIM:258450
Long-Olsen-Distelmaier Syndrome
Cataract, Microspherophakia, Failure to thrive, Polymicrogyria, Hyperammonemia, Death in childhoo... OMIM:620609
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Chorioretinal coloboma, Ce... ORPHA:163937
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Global brain atrophy, Astigmatism, Hypoplasia of the corpus callosum, Elevated ... OMIM:301056
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Classic Multiminicore Myopathy
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Intermittent episodes of respiratory... ORPHA:324604
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Severe fa... ORPHA:468631
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Increas... OMIM:616034
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Dysplastic corpus callosum, Microcephaly... OMIM:252650
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Ventriculomegaly, Hypoplasia of the pons... ORPHA:88618
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased sensory ne... OMIM:609260
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Dandy-Walker ... OMIM:618606
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplasia of the corpus c... OMIM:618677
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Flexion contracture, Facial palsy... OMIM:301830
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occul... OMIM:616602
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Death in infancy, Elevated circulating creatine kinase concentration OMIM:613869
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Lissencephaly 5
Cataract, Cerebellar vermis hypoplasia, Optic atrophy, Occipital encephalocele, Hypoplasia of the... OMIM:615191
Bresek Syndrome
Neonatal death, Aganglionic megacolon, Microcephaly, Hydrocephalus, Microphthalmia, Iris coloboma... ORPHA:85284
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Midline brainstem cleft, Hypoplasia of the pons, Agenesis of corpus callosum OMIM:617542
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Rabin-Pappas Syndrome
Cataract, Hypoplasia of the pons, Failure to thrive in infancy, Obesity, Hypoplasia of the corpus... OMIM:620155
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,... ORPHA:572798
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Cerebellar hypoplasia, Optic atrophy, Microcephaly, Periventricular nodular heterotopia OMIM:618572
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Fried Syndrome
Abnormal optic nerve morphology, Abnormal cerebellum morphology, Skeletal muscle atrophy, Hydroce... ORPHA:85335
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Ventriculomegaly, Chiari type I malformation, Microcephaly, Optic nerve hypoplasia OMIM:613638
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Skeletal muscle atrophy, Hypoplasia of the corpus callosum, Dysplastic corpus call... OMIM:613162
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy OMIM:151800
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Contractures of the large joints, Lateral ventricle dilatation, Dilated fourth ven... ORPHA:3078
Congenital Hydrocephalus
Optic atrophy, Abnormal cortical gyration, Ventriculomegaly, Macular hypoplasia, Colpocephaly, Hy... ORPHA:2185
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Hydrocephalus, Pa... OMIM:304100
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Facial hypotonia, Intention tremor, Optic ne... OMIM:618381
Microlissencephaly
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Periventricular ... ORPHA:1083
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Hypoplasia of the corpus callosum, Microcephaly, ... OMIM:617235
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy OMIM:254100
Giant Axonal Neuropathy 1, Autosomal Recessive
Distal amyotrophy, Sensory axonal neuropathy, Lateral ventricle dilatation, Abnormal cerebellum m... OMIM:256850
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Ventriculomegaly, Cerebellar atrophy, Camptodactyly of finger, Flexion contracture... OMIM:619323
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Hyperlysinemia, Type I
Hypoornithinemia, Ectopia lentis, Elevated CSF saccharopine concentration, Increased CSF lysine c... OMIM:238700
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Cerebral atrophy, Microcephaly, Hydrocephalus, Flexion contracture OMIM:300884
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gliosis, Lateral ventricle dilatation OMIM:221770
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Hyperammonemia, Hypoplasia of the corpus callosum, Neonatal death, ... OMIM:610015
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:157973
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Agenesis of cerebe... ORPHA:228384
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Elbow flexion contracture, Knee flexio... OMIM:619303
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Death in infancy, Neonatal deat... OMIM:616165
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Sensory axonal neuropathy, Lower limb muscle weakness, Progressive exter... ORPHA:329314
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... OMIM:619574
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Myopathy OMIM:618237
Squalene Synthase Deficiency
Polymicrogyria, Elbow flexion contracture, Hypocholesterolemia, Failure to thrive in infancy, Kne... OMIM:618156
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Death in infancy, Neonatal death, Polyhydra... OMIM:300219
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spinal muscular ... OMIM:617207
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita OMIM:619334
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Congenital Myopathy 24
Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance, Scapular winging OMIM:617336
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Ge... OMIM:609560
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Cerebral cortical atrophy, Distal amyotrophy, Lateral ventricle dilatation,... ORPHA:2822
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Distal lower limb muscle weakne... ORPHA:459033
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Fanconi Anemia, Complementation Group I
Chiari malformation, Astigmatism, Decreased body weight, Agenesis of corpus callosum, Microcephal... OMIM:609053
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Generalized amyotrophy, Pelvic girdle muscle weakness, Myopathy, Shoulder girdle muscle weakness OMIM:615156
Congenital Myopathy 16
Flexion contracture, EMG: myopathic abnormalities, Scapular winging OMIM:618524
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Mildly elevated creatine kinase, Slender buil... OMIM:161800
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Abnormality of ne... ORPHA:101029
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Death in childhood, Death in i... OMIM:614096
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem ORPHA:420179
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Abnormal lateral ventricle morphology, Cerebellar atrophy ORPHA:488635
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Obesity, Astigmatism, Op... OMIM:617296
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Cerebellar hypoplasia, Hydrocephalus, Hypoplasia of the brainstem OMIM:618174
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Increased CSF lactate, Ragged-red mus... OMIM:616239
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Spastic Paraplegia 54, Autosomal Recessive
Distal upper limb muscle weakness, Lower limb muscle weakness, Hypoplasia of the corpus callosum,... OMIM:615033
Sialidosis Type 2
Skeletal muscle atrophy, Abnormal macular morphology, Tremor, Corneal opacity, Flexion contractur... ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...