Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 18 (vesicular monoamine), member 3
Synonyms:
VAT,  VAChT

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Slc18a3 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 Slc18a3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Slc18a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:601472
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized hypotonia, Generalized weakness of limb muscles, Lumbar hyperlordosis, Abnormal perip... ORPHA:353327
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Prolonged miniature endplate currents, Dysphagia, Decreased miniature endplat... OMIM:616321
Myasthenic Syndrome, Congenital, 13
Hypotonia, Scoliosis, Fatigable weakness, Muscle fiber tubular inclusions OMIM:614750
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Generalized hypotonia, Hypotonia, Type 1 muscle fiber predominance, Limb m... OMIM:603034
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... ORPHA:482601
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... ORPHA:219
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Lower ... OMIM:612335
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Spastic gait, Spasti... ORPHA:247604
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Lower limb spasticity, Spa... ORPHA:401785
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Lower limb spasticity, J... OMIM:611225
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder gir... ORPHA:98913
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Spastic paraplegia OMIM:617046
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Fatigable weakness, Ataxia OMIM:616330
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
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
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Hypotonia, Decreased compound muscle action potential amplitude, Myopathy... OMIM:618323
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Neonatal hypotonia, Hypotonia, Limb muscle weakness, Weakness of facial musculature, T... OMIM:608930
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Fatigable weakness OMIM:616227
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness,... OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Generalized hypotonia, Hypotonia, Limb muscle weakness, Rag... OMIM:500002
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy OMIM:612539
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Optic atrophy, Knee... OMIM:615043
Autosomal Recessive Spastic Paraplegia Type 63
Scissor gait, Spasticity, Skeletal muscle atrophy, Hypertonia ORPHA:401805
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Hand muscle atrophy, Lower limb spasticity, Lower limb amyotrophy OMIM:615658
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Generalized hypotonia, Facial di... OMIM:611890
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ge... OMIM:619042
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Generalized hypotonia, Progressive spastic paraparesis, Foot do... ORPHA:496756
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... OMIM:253400
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Generalized hypotonia, Hypotonia, Myopathy, Scapu... OMIM:616471
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia, Generalized hypotonia due to defect at the neuromuscular junction, Limb mu... OMIM:605809
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Spastic gait OMIM:615681
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Neonatal hypotonia, Hypo... OMIM:616313
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myosclerosis, Autosomal Recessive
Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles... OMIM:255600
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lower... OMIM:610250
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
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
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Dystonia, Scoliosis OMIM:618244
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Foot dorsiflexor weakness, Lower limb amyotrophy, Optic disc pallor, Scoliosis, Ky... OMIM:617087
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Generalized hypoto... ORPHA:320370
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy ORPHA:357043
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Generalized hypotonia, Foot dorsiflexor weakness, S... OMIM:617207
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hypotonia,... OMIM:618184
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Scissor gait, Skeletal muscle atrophy, Hypertonia OMIM:615686
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Proximal spinal ... ORPHA:1320
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy OMIM:616282
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... OMIM:254210
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... OMIM:607088
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Neonatal hypotonia, Camptodactyly of finger, ... OMIM:158810
Autosomal Recessive Spastic Paraplegia Type 76
Scoliosis, Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness ORPHA:488594
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Hypotonia, Foot... OMIM:619216
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Widening of cervical spin... OMIM:253310
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Hypo... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials OMIM:608673
Dysequilibrium Syndrome
Hypotonia, Skeletal muscle atrophy ORPHA:1766
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hypot... OMIM:616228
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Generalized hypotonia, Death in... OMIM:616165
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... OMIM:601462
Perching Syndrome
Camptodactyly, Scoliosis, Cyanosis, Joint contracture OMIM:617055
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Rigid Spine Syndrome
Skeletal muscle atrophy, Generalized hypotonia, Elbow flexion contracture, Hamstring contractures... ORPHA:97244
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology, Spastic tetraparesis, Spastic dysarthria OMIM:611637
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Hypotonia, Facial diplegia, Death in infancy, Neonatal death, Distal arthrogry... OMIM:616287
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Spasticity OMIM:611105
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Generalized ... OMIM:160150
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Scoliosis, Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Decreased motor ... ORPHA:101077
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Hypotonia, Decreased compound muscle action potential amplitude, Multiple joint contra... OMIM:301830
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakn... OMIM:604801
Autosomal Spastic Paraplegia Type 30
Distal amyotrophy, Leg muscle stiffness, Progressive spastic paraplegia, Scissor gait, Lower limb... ORPHA:101010
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Amyotrophic Lateral Sclerosis 9
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Distal Hereditary Motor Neuropathy Type 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Abnormal motor nerve condu... ORPHA:139536
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Hand muscle atrophy, Spasticity of facial muscles, Opi... OMIM:205100
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Seizure, Reduced social reciprocity, Bilateral tonic... OMIM:608636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Neonatal h... OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, T... OMIM:615575
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hypotonia, Proximal amyotrophy, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis, Spinal... OMIM:617404
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Neonatal hypotonia, Upper limb musc... OMIM:605253
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal lower limb amyotrophy, Distal upper limb amyotrophy, S... ORPHA:101075
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Lower limb spasticity, Spastic gait, ... OMIM:613162
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Lower limb muscle weakness, D... OMIM:613287
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Generalized hypotonia, Hypotonia, Fatigable weakn... OMIM:608931
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:615048
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in uppe... OMIM:619566
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Proximal amyotrophy, Distal amyotrophy, Spinal muscular atrophy OMIM:182980
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, Knee flexion contracture... ORPHA:496689
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Generalized hypotonia, Death in childhood, Spinal muscul... OMIM:253300
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
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Kyphosis, Lower limb muscle weakness, Hip contracture, K... OMIM:615290
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Generalized hypotonia, Myopathy, Neonatal death, Dystonia, Flexion contr... OMIM:618237
Parastremmatic Dwarfism
Flexion contracture, Scoliosis, Kyphosis, Short neck OMIM:168400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Generalized hypotonia, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Infantile axial hypotonia, Type 1 muscle fiber predominance, Multiple joint co... ORPHA:424107
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb muscle ... OMIM:607684
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, App... OMIM:606353
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Neonatal hypotonia, Limb muscle weakness, Muscle ... OMIM:256030
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Increased variability in muscle fiber diameter, Increased endomysial connective ... ORPHA:75840
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypotonia, Cyanosis, Myopathy ORPHA:91130
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:302801
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy OMIM:615683
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, F... OMIM:600361
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Neonatal hypotonia, Generalized hypotonia, Reduced muscle fiber alpha dystrog... ORPHA:370980
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:607678
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Prenatal death, Neonatal death, Short neck, Camptodactyly, Arthrogryposi... OMIM:618393
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Amyotrophic Lateral Sclerosis 1
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Degeneration of anterior horn... OMIM:105400
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Neonatal hypotonia, Generalized hypotonia, Hypotoni... OMIM:617519
Amyotrophic Lateral Sclerosis 16, Juvenile
Weakness of the intrinsic hand muscles, Lower limb spasticity, Amyotrophic lateral sclerosis, Low... OMIM:614373
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Scoliosis, Skeletal muscle atrophy, Kyphosis ORPHA:101078
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Spasticity, Distal amyotrophy, Decreased circulating gona... OMIM:215470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Death in childhood, Spinal muscular atrophy, Joint contracture, Spastic ... OMIM:616081
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Hypotonia, Skeletal muscle atrophy ORPHA:868
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col... ORPHA:52430
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Fatigable weakness, Facial palsy OMIM:610542
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Hypotonia, Myopathy, Death in infancy, Hyperlordosis, Flexion contractur... ORPHA:157973
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Neonatal hypotonia, F... ORPHA:171436
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Hypotonia, Scoliosis, Skeletal muscle atrophy ORPHA:1188
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Facial diplegia, Knee flexion contract... OMIM:616286
Fried Syndrome
Hypotonia, Scoliosis, Skeletal muscle atrophy, Spastic diplegia ORPHA:85335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Spinal cord lesion, Lower limb spasticity, ... ORPHA:320355
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Neuralgic Amyotrophy
Acrocyanosis, Upper limb muscle weakness, Scapular winging, Upper limb amyotrophy ORPHA:2901
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal amyotrophy, Scoliosis OMIM:615376
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Hypotonia, Distal amyotrophy ORPHA:1216
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Hypotonia, Myopathy, Scoliosis, Kyphosis ORPHA:2598
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Decreased nerve conduct... ORPHA:90103
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Skeletal muscle atrophy, Hypotonia, Type 1 muscle fiber predominance, Dystonia OMIM:618276
Chiari Malformation Type Ii
Cervical myelopathy, Generalized hypotonia, Hypotonia, Limb muscle weakness, Cyanosis, Syringomye... OMIM:207950
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Reduced muscle fiber alph... ORPHA:206559
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Severe X-Linked Mitochondrial Encephalomyopathy
Severe muscular hypotonia, Increased variability in muscle fiber diameter, Skeletal muscle atroph... ORPHA:238329
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Spinal cord lesion, Lower limb spasti... ORPHA:171863
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Amyotrophic lateral sclerosis OMIM:608030
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Decreased motor nerve conduction velocity OMIM:605589
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Roussy-Lévy Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... OMIM:607706
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Combined Oxidative Phosphorylation Deficiency 6
Hypotonia, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine esterase inhibi... ORPHA:98915
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Poor wound healing... ORPHA:536516
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... ORPHA:3417
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle h... ORPHA:101081
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Abnormal motor nerv... ORPHA:100998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotr... OMIM:604286
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormality of the spinocerebellar tracts, Limb muscle weakness, Fatigab... ORPHA:329336
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Bruising susceptibility, Myopathy, Kyphoscoliosis, Severe muscular hypot... ORPHA:300179
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Kyphosis, Neonatal hypotonia, Hyperlordosis, Scapular... OMIM:255200
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Achilles tendon contracture, Scoliosi... OMIM:607225
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Neonatal hypotonia, Shoulde... ORPHA:2596
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Childhood Disintegrative Disorder
Mental deterioration, Reduced social reciprocity, Motor deterioration, Social and occupational de... ORPHA:168782
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Pro... ORPHA:139578
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized hypotonia... ORPHA:171881
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Fatigable weakness, Distal amyotrophy, Weakness of facial musculature OMIM:254300
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Hypotonia, Rigidity, Dystonia, Scoliosis OMIM:618239
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... OMIM:158900
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Hypotonia, Skeletal muscle atrophy, Ragged-red muscle... ORPHA:480
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Pure Mitochondrial Myopathy
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Hypotonia, Rha... ORPHA:254854
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Kyphosis, Scapular muscle atrophy, ... OMIM:181405
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture OMIM:613723
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Axial hypotonia, Appendicular hypotonia, Kyphosis, Facial myokymia OMIM:620007
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Generalized hypotonia, Hypotonia, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia... OMIM:609560
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Hypertonia OMIM:610992
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Skeletal muscle atrophy, Dystonia, Scoliosis OMIM:500001
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Dystonia, Scoliosis ORPHA:330050
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Charcot-Marie-Tooth Disease Type 4A
Joint contracture of the hand, Distal amyotrophy, Generalized neonatal hypotonia, Denervation of ... ORPHA:99948
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should... ORPHA:98856
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Hypotonia, Fatigable weakness, Facia... OMIM:617143
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
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness, Kyphoscoliosis, Facial pal... OMIM:614707
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Lower limb spasticity, S... OMIM:616907
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Upper limb muscle weakness, Lower limb ... OMIM:270800
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Spasticity, Skeletal muscle atrophy, Rigidity OMIM:183050
Mitochondrial Complex I Deficiency, Nuclear Type 31
Hypotonia, Skeletal muscle atrophy, Death in childhood OMIM:618251
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Neuropathic spinal arthropathy, Muscle fib... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Neuropathic spinal arthropathy, Muscle fib... ORPHA:98914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Seve... ORPHA:171433
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Generalized hypotonia, Lumbar hyperlordosis, Hypotonia, Lower limb spasticity, Dystonia, Scoliosi... OMIM:616756
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Aids Wasting Syndrome
Abnormal gonadotropin-releasing hormone concentration, Skeletal muscle atrophy ORPHA:90081
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Hypotonia, Foot dorsiflexor weakness, ... OMIM:620011
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105550
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Scoliosis, Skeletal muscle atrophy, Skeletal muscle hypertrophy ORPHA:101082
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Generalized hypotonia, Infantile axial hypotonia... OMIM:618578
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Neonatal hypotonia, Kyphoscol... OMIM:616470
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Decreased nerve conduction velocity, Severe muscular hypotonia, Dystonia... OMIM:614932
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness, Neuromyotonia OMIM:137200
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Spasticity, Skeletal muscle atrophy, Hypotonia, Arthrogryposis multiplex congenita... ORPHA:2254
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Neonatal hyp... OMIM:254090
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... OMIM:616688
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Oxoglutarate Dehydrogenase Deficiency
Hypotonia, Death in childhood, Rigidity, Dystonia, Generalized amyotrophy OMIM:203740
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Spasticity, Cyanosis, Hypertonia ORPHA:71277
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Myopathy, Myofibrillar, 6
Spinal rigidity, Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flex... OMIM:612954
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Decreased serum testosterone concentration, Lower limb spasticity, Dysto... ORPHA:101006
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Generalized hypotonia, Hypotonia, Multiple joint contracture... OMIM:128100
Amish Nemaline Myopathy
Shoulder flexion contracture, Neonatal hypotonia, Type 1 muscle fiber predominance, Hip contractu... ORPHA:98902
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Scoliosis, Lower limb muscle weakness ORPHA:2590
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Infantile axial hypotonia, Knee flexion contracture, Short neck, Hyper... ORPHA:284417
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Arm dystonia, Amyotroph... ORPHA:300605
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Skeletal muscle atrophy, Kyphoscoliosis OMIM:616684
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Skeletal muscle atrophy, Decreased nerve conduction veloci... ORPHA:457205
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Skeletal muscle atrophy, Hypotonia, Joint contracture, Spastic tetraparesis, Scoli... OMIM:617481
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Poor wound healing, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising... OMIM:130060
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized hypotonia, S... OMIM:616867
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi... OMIM:255160
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Anterior beaking of lumbar vertebrae, Dystonia, Scoliosis... OMIM:230650
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Distal amyotrophy, Spastic dysarthria, Spinocerebellar tract d... ORPHA:94124
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Myopathy, Weakness of facial musculatu... ORPHA:254875
Muscular Dystrophy, Congenital, Lmna-Related
Spinal rigidity, Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber ... OMIM:613205
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Distal amyotrophy, Optic disc pallor, Flexion contracture, Sco... OMIM:609541
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Limb muscl... OMIM:614895
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Short neck, Flexion contracture, Scoli... ORPHA:178148
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Proximal amyotr... OMIM:615084
Intellectual Disability, Birk-Barel Type
Foot joint contracture, Neonatal hypotonia, Fatigable weakness of skeletal muscles, Generalized h... ORPHA:166108
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Skeletal muscle atrophy, Limb hypertonia, Scoliosis, Spastic tetraplegia, Axial hy... OMIM:619527
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Left ventricular hypert... OMIM:618228
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis ORPHA:85288
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Lower limb muscle weakness, Spinal cord lesion, Lower limb spasti... ORPHA:100999
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Hypotonia, Skeletal muscle atrophy ORPHA:477814
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Joint contracture, Scoliosis, Generalized amyotrophy OMIM:616516
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Joint contract... OMIM:615419
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy OMIM:608627
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Appendicular spasticity, Kyphoscoliosis, Death in infancy, Joint contracture... OMIM:260600
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Kyphoscoliosis OMIM:607831
Schindler Disease, Type I
Optic atrophy, Spasticity, Generalized hypotonia, Hypotonia, Generalized amyotrophy OMIM:609241
Neuropathy, Congenital, With Arthrogryposis Multiplex
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Hyperlordosis OMIM:162370
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Kyph... ORPHA:99950
Spastic Paraplegia 85, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Lower limb muscle weakness, Lower limb ... OMIM:619686
Cerebellar Ataxia, Cayman Type
Hypotonia, Dystonia, Skeletal muscle atrophy, Hypomimic face OMIM:601238
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypotonia, Muscular dystrophy, Kyphosis ORPHA:1875
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Appendicular hypotonia, Axial hypotonia OMIM:620546
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertrophy, Macroglo... OMIM:616827
Charcot-Marie-Tooth Disease Type 4G
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal lower limb muscle weakness, ... ORPHA:99953
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot... ORPHA:275872
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Myopathy Due To Myoadenylate Deaminase Deficiency
Hypotonia, Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Pontocerebellar Hypoplasia, Type 1A
Distal amyotrophy, Congenital contracture, Hypotonia, Spinal muscular atrophy, Degeneration of an... OMIM:607596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Myositis, Proximal amyotrophy, Scapular winging, ... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Scoliosis, Lower limb ... ORPHA:1177
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Autosomal Recessive Spastic Paraplegia Type 5A
Spastic paraplegia, Upper limb spasticity, Upper limb muscle weakness, Lower limb muscle weakness... ORPHA:100986
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Generalized hypotonia, Acute infantile spinal muscular atrophy, Flexion co... OMIM:271225
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal amyotrophy, Calf muscle hypertrophy, Scapular winging OMIM:601287
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Hsd10 Disease
Short attention span, Choreoathetosis, Abnormal social behavior, Ataxia ORPHA:391417
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Hypertrophic Neuropathy Of Dejerine-Sottas
Distal amyotrophy, Decreased motor nerve conduction velocity, Hypotonia, Foot dorsiflexor weaknes... OMIM:145900
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101097
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Generalized hypotonia, Hypotonia, Scheuermann-like vertebral chan... OMIM:301900
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Kyphosis OMIM:151800
Classic Multiminicore Myopathy
Spinal rigidity, Muscular dystrophy, Generalized hypotonia, Muscle fiber atrophy, Increased muscl... ORPHA:324604
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Skeletal muscle atrophy OMIM:613710
Primary Lateral Sclerosis
Spasticity, Progressive spastic paraparesis, Abnormal upper motor neuron morphology, Cervical spi... ORPHA:35689
Hereditary Methemoglobinemia
Spasticity, Limb dystonia, Cyanosis, Hypertonia, Spastic tetraplegia ORPHA:621
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypotonia, Scoliosis, Kyphosis, Myopathy OMIM:618234
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Lower limb spasticity, Skeletal muscle atrophy ORPHA:100988
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Neonatal hypotonia, Camptodactyly of finger, Dec... OMIM:604320
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Thigh hypertrophy, ... OMIM:607155
Bethlem Muscular Dystrophy
Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl... ORPHA:610
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Scoliosis, Skeletal muscle atrophy, Flexion contracture ORPHA:98896
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Skeletal muscle atrophy, Sacrococcygeal pilonidal abnormality ORPHA:2840
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Generalized hypotonia OMIM:618512
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Fucosidosis
Spasticity, Spastic tetraplegia, Decreased muscle mass, Vascular skin abnormality, Hypotonia, Ant... ORPHA:349
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Generalized neonatal hypotonia, Skeletal muscle atrophy, Hypotonia, Death in childhood, Death in ... OMIM:245400
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal musculature, Muscul... ORPHA:2926
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Scoliosis, Kyphosis, Generalized hypotonia, Hypotonia, Short neck,... OMIM:314580
Developmental And Epileptic Encephalopathy 86
Dystonia, Generalized hypotonia, Generalized amyotrophy OMIM:618910
Zimmermann-Laband Syndrome 2
Generalized hypotonia, Hypotonia, Short neck, Macroglossia, Kyphosis OMIM:616455
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Allan-Herndon-Dudley Syndrome
Spasticity, Skeletal muscle atrophy, Neonatal hypotonia, Kyphoscoliosis, Dystonia, Limb hypertoni... ORPHA:59
Kleefstra Syndrome 2
Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia OMIM:617768
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Neonatal hypotonia,... OMIM:617258
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118200
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Hypotonia, Scoliosis, Kyphosis ORPHA:276630
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Spasticity, Skeletal m... ORPHA:559
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Dystonia, Kyphosis, Lower limb hypertonia OMIM:614898
Spastic Paraplegia 39, Autosomal Recessive
Distal lower limb muscle weakness, Distal amyotrophy, Atrophy of the spinal cord, Progressive spa... OMIM:612020
Sjögren-Larsson Syndrome
Erythema, Spasticity, Urticaria, Hypotonia, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Kyphosis, Generalized hypotonia ORPHA:87876
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Hypotonia, Abnormal cranial nerve morphology, Limb muscle weakness, Abno... ORPHA:97229
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Severe muscular hypotonia, Spina bifida occ... OMIM:618291
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Hypotonia, Skeletal muscle atrophy, Bruising susceptibility ORPHA:230839
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Neonatal hypotonia, Decreased motor nerve conduction velocity, Decreased... OMIM:218000
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigable weakness of skeletal muscles, Hypotonia, Cyanosis, Knee flexion contracture, Weakness o... OMIM:617239
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis, Generalized hypotonia OMIM:618658
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Distal lower limb amyotrophy, M... ORPHA:320406
Masa Syndrome
Spastic paraplegia, Lower limb spasticity, Kyphosis, Hyperlordosis OMIM:303350
Benign Familial Infantile Epilepsy
Cyanosis, Hypertonia ORPHA:306
Autosomal Recessive Spastic Paraplegia Type 53
Limb dystonia, Kyphosis, Upper limb hypertonia ORPHA:319199
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Lower limb muscle weakness, Limb muscle weakness, Lower limb spasticity, Spas... OMIM:614409
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Skeletal muscle atrophy, Flexion contracture of fin... OMIM:609033
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Confusion, Ataxia, Dementia, Semantic dementia, Abnormal social behavior ORPHA:1020
Cleft Palate-Large Ears-Small Head Syndrome
Hypotonia, Skeletal muscle atrophy ORPHA:2013
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Hypotonia, Scoliosis, Foot dorsiflexor weakness OMIM:618124
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Lower limb spasticity, Limb hypertonia, Spastic gait, Lower limb ... ORPHA:401815
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Neurogenic bladder, Abnormal upper motor neuron morphology, Orthostatic hypot... OMIM:263570
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276244
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of facial musculature... OMIM:618811
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Abnormality of the cervical spine, Finger joint contr... ORPHA:48431
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Breath-Holding Spells
Cyanosis OMIM:607578
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Fatiguable ... ORPHA:206569
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Spasticity, Congenital contracture, Generalized hypotonia, Joint c... ORPHA:352490
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Aggressive behavior, Hyperactiv... ORPHA:3077
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
Amyotrophy, Monomelic
Interosseus muscle atrophy, Cervical spinal cord atrophy, Upper limb muscle weakness OMIM:602440
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Muscle fi... OMIM:258450
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Generalized hypotonia, Facial diplegia, Type 1 muscle... ORPHA:169186
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Abnormal muscle tone ORPHA:505652
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures, Death in infancy ORPHA:2028
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased ampli... OMIM:256840
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Vascular skin abnormality, Decrea... ORPHA:812
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Limb joint contracture, Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, Kyphoscoliosis OMIM:612079
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Short attention span, Abnormal social behavior ORPHA:444002
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Spinocerebellar Ataxia 1
Optic atrophy, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spinocerebellar tract dege... OMIM:164400
Lissencephaly 8
Optic atrophy, Axial hypotonia, Skeletal muscle atrophy, Appendicular spasticity OMIM:617255
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Spastic paraplegia, Skeletal muscle atrophy, Upper limb ... OMIM:620538
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Generalized hypotonia, Hypotonia, Joint contracture of the 5th finger, Dystonia, Acrocyanosis OMIM:614407
Hsd10 Disease, Infantile Type
Optic atrophy, Spastic tetraparesis, Hypotonia, Cyanosis, Dystonia, Spastic diplegia ORPHA:391428
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Abnormal upper motor neuron morphology, Lower limb spasticity, Spastic gait, ... OMIM:601162
Neuropathy, Hereditary Motor And Sensory, Okinawa Type