Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
choline acetyltransferase
Synonyms:
B230380D24Rik

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 Chat 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 Chat by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Distal lower limb muscle weakness, Cyanosis, Spinal rigidity, Fatigable weakness,... ORPHA:98914

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics 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
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f... OMIM:607641
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Miyoshi Myopathy
Distal lower limb muscle weakness, Tibialis anterior muscle atrophy, Calf muscle hypertrophy, Dis... ORPHA:45448
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Distal amyotrophy, Scoliosis, Upper limb muscle weakness,... OMIM:601472
Congenital Myasthenic Syndromes With Glycosylation Defect
Fatigable weakness, Ragged-red muscle fibers, Scoliosis, Scapular winging, Facial palsy, Muscle f... ORPHA:353327
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Prolonged miniature endplate currents, Decreased miniature endplate potential... OMIM:616321
Myasthenic Syndrome, Congenital, 13
Scoliosis, Muscle fiber tubular inclusions, Hypotonia, Fatigable weakness OMIM:614750
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Spastic gait, Ataxia, Type 1 muscle fiber predominance, Slurred ... ORPHA:972
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Spastic Paraplegia 18B, Autosomal Recessive
Babinski sign, Lower limb spasticity, Scoliosis, Kyphosis, Spastic paraplegia, Upper limb spastic... OMIM:611225
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Scoliosis, Hyperlordosis, Prolonged miniature endplate currents, Limb muscle ... OMIM:603034
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb muscle weakness, Lower limb amyotrophy, Triceps weakness, Upper limb amyotrophy... ORPHA:482601
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Scapular winging, Facial palsy, ... ORPHA:219
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Spastic Paraplegia 38, Autosomal Dominant
Spastic gait, First dorsal interossei muscle atrophy, Lower limb spasticity, Distal amyotrophy, S... OMIM:612335
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
First dorsal interossei muscle atrophy, Distal amyotrophy, Upper limb muscle weakness, Thenar mus... OMIM:600794
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Distal amyotrophy, Scoliosis, Hyperlordosis, Spinal muscular atrophy, Scapuloperoneal amyotrophy,... OMIM:611067
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Juvenile Primary Lateral Sclerosis
Spastic gait, Spastic dysarthria, Abnormal upper motor neuron morphology, Spasticity, Spastic tet... ORPHA:247604
Autosomal Recessive Spastic Paraplegia Type 62
Spastic gait, Lower limb spasticity, Knee flexion contracture, Skeletal muscle atrophy, Thoracic ... ORPHA:401785
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness OMIM:617046
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Fatigable weakness of respiratory muscles, Cyanosis, Abnormality of masticat... ORPHA:98913
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Ataxia, Fatigable weakness OMIM:616330
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Weak grip, Distal upper limb amyotrophy, Di... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Distal amyotrophy, Elbow flexion contracture, Hyperlordosis, S... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Severe muscular hypotonia, Spinal rigidity, Decreased compound muscle action potential amplitude,... OMIM:618323
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neonatal hypotonia, Scoliosis, Facial palsy, Decreased miniature endplate potentials, Limb muscle... OMIM:608930
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Fatigable weakness OMIM:616227
Congenital Myopathy 23
Kyphoscoliosis, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeleta... OMIM:609285
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Claw hand deformity, Scoliosis, ... OMIM:605285
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal amyotrophy, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduct... OMIM:158580
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ... OMIM:611637
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy OMIM:612539
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic paraplegia, Knee... OMIM:615043
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Hypertonia, Skeletal muscle atrophy, Scissor gait ORPHA:401805
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy, Lower limb spasticity, Lower limb amyotrophy, Spastic paraplegia, Hand muscle atrophy OMIM:615658
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Scoliosis, Facial diplegia, Kyphosis, Short neck, Neonata... OMIM:611890
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Flexion contracture, Skeletal muscle atrophy OMIM:614915
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Scoliosis, Increased variability in muscle fiber diameter, Hip contracture, Ge... OMIM:619042
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Progressive spastic paraparesis, Scoliosis, Distal amyotrophy, Spastic tetraparesi... ORPHA:496756
Spinal Muscular Atrophy, Type Iii
Distal amyotrophy, Spinal muscular atrophy, Shoulder girdle muscle atrophy, Pelvic girdle amyotro... OMIM:253400
Bethlem Myopathy 2
Scoliosis, Scapular winging, Kyphosis, Increased variability in muscle fiber diameter, Flexion co... OMIM:616471
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Limb muscle weakness, Generalized hy... OMIM:605809
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Vocal cord paralysis, Death in infancy, Neonatal death, Dista... OMIM:616287
Spastic Paraplegia 62, Autosomal Recessive
Spastic gait, Lower limb spasticity, Spasticity, Skeletal muscle atrophy, Thoracic scoliosis OMIM:615681
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Neonatal hypotonia, Fatigable weakness, Facial palsy, Limb muscle weaknes... OMIM:616313
Myosclerosis, Autosomal Recessive
Spinal rigidity, Facial palsy, Thoracolumbar scoliosis, Achilles tendon contracture, Neck joint c... OMIM:255600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Distal lower limb muscle weakness OMIM:608634
Spastic Paraplegia 31, Autosomal Dominant
Spastic gait, Lower limb spasticity, Distal amyotrophy, Spastic paraplegia, Skeletal muscle atrop... OMIM:610250
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Mitochondrial Complex I Deficiency, Nuclear Type 23
Scoliosis, Dystonia, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia OMIM:618244
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Claw hand deformity, Lower limb amyotrophy, Upper limb muscle weakness, Optic disc... OMIM:618511
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy, Foot dorsiflexo... OMIM:617087
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Rimmed vacuoles, Hyperlordosis, Frequent falls, Kyphosis, Increased v... OMIM:300718
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism OMIM:105500
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Tremor, Scoliosis, Kyphosis, At... ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Hype... OMIM:617760
Spinal Muscular Atrophy, Type Iv
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... OMIM:271150
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Ankle flexion contracture, Distal amyotrophy, Spasticity, Flexion contracture of fi... ORPHA:320370
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis, Distal lower limb muscle weakness OMIM:158590
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy ORPHA:357043
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Scoliosis, Distal amyotrophy, Spasticity, Spinal muscular atrophy, Foot dorsiflexo... OMIM:617207
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Hypertonia, Skeletal muscle atrophy, Scissor gait OMIM:615686
Neuropathy, Congenital Hypomyelinating, 2
Scoliosis, Distal amyotrophy, Facial diplegia, Skeletal muscle atrophy, Hypotonia, Decreased moto... OMIM:618184
Idiopathic Camptocormia
Syringomyelia, Fatty replacement of skeletal muscle, Myelitis, Abnormal intervertebral disk morph... ORPHA:1320
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy OMIM:616282
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Scoliosis, Vocal cord paralysis ORPHA:640
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scoliosis, Hyperlordosis, Scapular winging, Nemaline bodies, Infan... OMIM:620389
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ... OMIM:254210
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal lower limb muscle weakness, Distal amyotrophy, Hyperlordosis, Spinal muscular atrophy, Int... OMIM:607088
Bethlem Myopathy 1A
Neonatal hypotonia, Ankle flexion contracture, Torticollis, Congenital muscular torticollis, Elbo... 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 upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:619216
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Hypoplasia of the musculature, Neonatal death, Skeletal muscle... OMIM:253310
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Scoliosis, Increased variability in muscle fiber diameter, Skele... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Scoliosis, Distal amyotrophy, Decreased amplitude of sensory action potentials OMIM:608673
Dysequilibrium Syndrome
Skeletal muscle atrophy, Hypotonia ORPHA:1766
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Fatigable weakness, Ragged-red muscle fibers, Scoliosis, Hyperlordosis,... OMIM:616228
Nemaline Myopathy 10
Facial palsy, Nemaline bodies, Congenital contracture, Death in infancy, Neonatal death, Skeletal... OMIM:616165
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents, Upper limb muscle weakness, Intrinsic ... OMIM:601462
Perching Syndrome
Scoliosis, Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Scoliosis, Tremor, Kyphosis, Ataxia, Skeletal muscle atrophy ORPHA:101078
Rigid Spine Syndrome
Spinal rigidity, Scoliosis, Elbow flexion contracture, Hyperlordosis, Hamstring contractures, Hip... ORPHA:97244
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Upper motor neuron dy... ORPHA:95434
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Myopathy, X-Linked, With Postural Muscle Atrophy
Spinal rigidity, Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: ... OMIM:300696
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Neonatal hypotonia, Ankle flexion contracture, Central core regions in muscle fibers, Scoliosis, ... OMIM:117000
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spasticity, Scoliosis, Aplasia of the left hemidiaphragm, Spastic tetraplegia, Cho... OMIM:618238
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Distal arthrogryposis, Skeletal muscle atrophy, Knee flexion contracture, Paralysis OMIM:616286
Primary Lateral Sclerosis, Juvenile
Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli... OMIM:606353
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Proximal muscle weakness in upper limbs, Distal ... OMIM:607706
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Flexion contracture, Skeletal muscle atrophy OMIM:611105
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Distal amyotrophy, Compound muscle action p... OMIM:616040
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Poor fine motor coordination, Sc... ORPHA:99947
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Lower limb spasticity, Spasticity, Abnormal lower motor ... OMIM:613954
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Scoliosis, Achilles tendon contracture, Skeletal muscle atrophy OMIM:620323
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal upper limb amyotrophy, Distal amyotrophy, Scoliosis, Decreased motor nerve conduction velo... ORPHA:101077
Spastic Paraplegia 2, X-Linked
Optic atrophy, Spastic gait, Lower limb spasticity, Spastic paraplegia, Flexion contracture, Skel... OMIM:312920
Spinal Muscular Atrophy, X-Linked 2
Severe muscular hypotonia, Decreased compound muscle action potential amplitude, Scoliosis, Facia... OMIM:301830
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Spinal rigidity, Facial palsy, Pectoralis amyotrophy, Sternocleidomastoid amy... OMIM:604801
Parastremmatic Dwarfism
Short neck, Scoliosis, Flexion contracture, Kyphosis OMIM:168400
Autosomal Spastic Paraplegia Type 30
Spastic gait, Scissor gait, Lower limb spasticity, Distal amyotrophy, Leg muscle stiffness, Progr... ORPHA:101010
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Scapular winging, Facial palsy, Nemaline bodies, Increased variability ... OMIM:616852
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Myopathy, Distal, 4
Distal upper limb amyotrophy, Thenar muscle weakness, Skeletal muscle atrophy, Distal lower limb ... OMIM:614065
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Upp... ORPHA:139536
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Gliosis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Nemaline bodies, Limb-gird... OMIM:620386
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Opisthotonus, Amyotrophic later... OMIM:205100
Nemaline Myopathy 6
Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Myopathy OMIM:609273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Neonatal hypotonia, Calf muscle hypertrophy, Hyperlordosis, Facial palsy, EMG... OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb amyotrophy, Triceps weakness, Spinal muscular atrophy, Weakness of the intrinsic hand ... OMIM:615575
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Gait ataxia ORPHA:438134
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy, Scoliosis, Tremor... ORPHA:99014
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Lower limb spasticity, Scoliosis, Hyperlordosis, Kyphosis, Proximal amyotrophy, ... OMIM:617404
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy OMIM:613710
Tubular Aggregate Myopathy
Fatigable weakness, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased vari... ORPHA:2593
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Neonatal hypotonia, Abnormal cranial nerve morphology, Distal amyotrophy, Upper limb muscle weakn... OMIM:605253
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis, Fatigable weakness OMIM:614198
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic gait, Lower limb spasticity, Spastic paraplegia, Flexion contracture, Skel... OMIM:613162
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Foot dorsiflexor weakness, Di... OMIM:613287
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Claw hand deformity, Decreased compound muscle action potential amplitude, Distal amyotrophy, Spi... OMIM:605726
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Babinski sign, Distal lower limb muscle weakness, Lower limb spasticity, Lower limb amyotrophy, F... OMIM:615290
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Decreased muscle mass, Skeletal muscle atrophy, Generalized hyp... OMIM:608931
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:615048
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Distal amyotrophy, Poor gross motor coordination, Poor fine ... ORPHA:99948
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, S... OMIM:619566
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Scoliosis, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypotonia, In... OMIM:620542
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Proximal amyotrophy, Spinal muscular atrophy OMIM:182980
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Hand muscle weakness, Froment sign OMIM:162500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Proximal muscle weakness in upper limbs, Lower limb spasticity, Lower limb amyotr... ORPHA:496689
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Tetraparesis, Gliosis, Paraparesis, Extrapyramidal dyskinesia, Skeletal muscle atrophy, ... OMIM:105550
Spinal Muscular Atrophy, Type I
Death in childhood, Spinal muscular atrophy, Proximal amyotrophy, Generalized hypotonia, Proximal... OMIM:253300
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Limb muscle weakness, General... OMIM:167320
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Scoliosis, Facial palsy, Spinal muscular atrophy, Skeletal m... OMIM:159950
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:617892
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:620265
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Neonatal death, Dystonia, Flexion contracture, Generalized hypotonia, Sp... OMIM:618237
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Hypertonia, Vertebral segmentation defect ORPHA:1166
Roussy-Lévy Syndrome
Limb ataxia, Babinski sign, Kyphoscoliosis, Postural tremor, Distal amyotrophy, Scoliosis, Freque... ORPHA:3115
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... ORPHA:71277
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Generalized hypotonia OMIM:619099
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Fatigable weakness, Scoliosis, Scapular winging, EMG: myopathic... ORPHA:424107
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Spasticity OMIM:602099
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Distal amyotr... OMIM:607684
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Neonatal ... OMIM:256030
Myopathy, X-Linked, With Excessive Autophagy
Neonatal hypotonia, Scoliosis, Muscle fiber necrosis, Skeletal muscle autophagosome accumulation,... OMIM:310440
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,... ORPHA:75840
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Hypotonia ORPHA:91130
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Foot do... OMIM:302801
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Horner Syndrome, Congenital
Paralysis, Congenital Horner syndrome OMIM:143000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Increased variability in muscle fiber diameter, Centrally nu... OMIM:618484
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Hypertonia, Distal amyotrophy, Scolio... OMIM:609260
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Progressive cerebellar ataxia, Apraxia, Abnormal upper motor neuron morphology, Fa... ORPHA:275872
Hereditary Motor And Sensory Neuropathy V
Hypertonia, Distal amyotrophy, Spasticity, Limb muscle weakness, Foot dorsiflexor weakness, Decre... OMIM:600361
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy OMIM:615683
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Myopathy, Congenital contracture OMIM:208100
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Muscular dystrophy, Neonatal hypotonia, Fatty replacement of skeletal muscle, Lim... ORPHA:370980
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Foot do... OMIM:607678
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Hyperlordosis, Scapular winging, Increased variability in muscle fiber di... OMIM:618129
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Spinal rigidity, Neonatal hypotonia, Calf muscle hypertrophy, Scoliosis, Tric... ORPHA:86812
Fetal Akinesia Deformation Sequence 4
Prenatal death, Camptodactyly, Kyphosis, Neonatal death, Skeletal muscle atrophy, Short neck, Art... OMIM:618393
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle a... OMIM:105400
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Decreased circulating gonadotropin concentration, Distal ... OMIM:215470
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles, Low... OMIM:614373
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Neonatal hypotonia, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Sc... OMIM:617519
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture ORPHA:171719
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616437
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Spastic tetraparesis, Spinal muscular atrophy, Joint contracture, Skeletal mu... OMIM:616081
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypotonia ORPHA:868
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Abnormal motor neuron morphology, Rimmed vacuoles, Hyperlord... ORPHA:52430
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Fatigable weakness OMIM:610542
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis, Death in infancy, Flexion contracture, Skeletal muscle atrophy, H... ORPHA:157973
Typical Nemaline Myopathy
Neonatal hypotonia, Fatigable weakness of respiratory muscles, Spinal rigidity, Scoliosis, Facial... ORPHA:171436
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Ataxia-Deafness-Intellectual Disability Syndrome
Scoliosis, Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypotonia ORPHA:1188
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n... OMIM:618138
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Scoliosis... OMIM:614409
Fried Syndrome
Scoliosis, Skeletal muscle atrophy, Hypotonia, Spastic diplegia ORPHA:85335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... OMIM:254110
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Inguinal hernia, Abnorm... ORPHA:2311
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Autosomal Dominant Spastic Paraplegia Type 41
Spastic gait, Lower limb spasticity, Lower limb amyotrophy, Hand muscle weakness, Spinal cord les... ORPHA:320355
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Distal amyotrophy, Facial palsy, Abnormal auditory evoked potentials, Decreased motor ... OMIM:601382
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Upper limb muscle weakness, Acrocyanosis ORPHA:2901
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Scoliosis, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:615376
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Scoliosis, Kyphosis, Hypotonia, Myopathy ORPHA:2598
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Distal amyotrophy, Hypotonia, Nonprogressive muscular atrophy ORPHA:1216
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Lower limb amyotrophy, Am... ORPHA:90103
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Tetraplegia, Scoliosis, Spastic paraplegia, Achilles tendon contracture, Spastic t... OMIM:607225
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Optic disc pallor OMIM:300887
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Dystonia, Skeletal muscle atrophy, Hypotonia, Type 1 muscle fiber predominance OMIM:618276
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Spina bifida, Limb muscle weakness, Opisthotonus, Generalized... OMIM:207950
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Scoliosis, Slowed slurred speech, Umbilical hernia, Short neck ORPHA:284180
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased sensory nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Hand ... OMIM:608323
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Fatigable weakness of skeletal muscles, Calf muscle hypertrophy, Scapular winging, Proximal amyot... ORPHA:206559
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Scoliosis, Tremor ORPHA:370079
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Severe muscular hypotonia, Skeletal muscle atroph... ORPHA:238329
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Autosomal Dominant Spastic Paraplegia Type 42
Spastic gait, Lower limb spasticity, Lower limb amyotrophy, Progressive spastic paraplegia, Lower... ORPHA:171863
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele OMIM:601163
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Amyotrophic lateral sclerosis OMIM:608030
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Hypokalemic Periodic Paralysis
Respiratory paralysis, Periodic hypokalemic paresis, Increased intramyocellular lipid droplets, P... ORPHA:681
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Abnormality of extrapyramidal motor function, Spasticity, Scoliosis, ... OMIM:610743
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Scoliosis, Tremor, Limb myoclonus, Frequent falls, Myoclonus, Clumsiness, Abnor... ORPHA:2590
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Hypotonia OMIM:300816
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Babinski sign, Distal amyotrophy, Scoliosis, Exaggerated startle response, Kyphosi... OMIM:609541
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Flexion contracture of toe, Chorea, Scoliosis, Finger joint contracture, In... ORPHA:48431
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Scoliosis, Scapular winging, Facial... ORPHA:98915
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Congenital finger flexion contractures, Kyphosis, Neonatal hypoton... ORPHA:536516
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging, A... ORPHA:3417
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Primary Lateral Sclerosis
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici... ORPHA:35689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... OMIM:253700
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis, Decreased sensory nerve conduction velocity, Calf muscle hypertrophy, Skeletal mu... ORPHA:101081
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Hand ... ORPHA:100998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... OMIM:604286
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Fatigable weakness of respiratory muscles, Scoliosis, Abnormality of the spinocerebellar tracts, ... ORPHA:329336
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Severe muscular hypotonia, Skeletal muscle atrophy, Bruising susceptibility, Myop... ORPHA:300179
Myopathy, Centronuclear, 2
Neonatal hypotonia, Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, EMG: myopathic abno... OMIM:255200
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Decreased compound muscle action potential amplitude, Pallor of dorsal columns of ... OMIM:602433
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Decreas... OMIM:605588
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Spinal rigidity, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, ... OMIM:602771
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Myopathy And Diabetes Mellitus
Neonatal hypotonia, Weakness of orbicularis oculi muscle, Skeletal myopathy, Sternocleidomastoid ... ORPHA:2596
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Distal amyotrophy, Spasticity, Abnormal autonomic nervous system physiology, Spastic paraplegia, ... ORPHA:139578
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Neonatal hypotonia, Type 1 and type 2 muscle fiber minicore regions, Scoliosi... OMIM:255320
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Inguinal hernia ORPHA:36
Distal Nebulin Myopathy
Ankle flexion contracture, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscles, ... ORPHA:399103
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ... ORPHA:171881
Myasthenic Syndrome, Congenital, 10
Distal amyotrophy, Proximal amyotrophy, Fatigable weakness, Weakness of facial musculature OMIM:254300
Mitochondrial Complex I Deficiency, Nuclear Type 17
Scoliosis, Rigidity, Dystonia, Skeletal muscle atrophy, Hypotonia, Generalized dystonia OMIM:618239
Spastic Paraplegia 17, Autosomal Dominant
Spastic gait, First dorsal interossei muscle atrophy, Lower limb spasticity, Distal amyotrophy, S... OMIM:270685
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Scoliosis, Upper limb muscle weakness, Limb muscle weakness, Fiber type groupi... OMIM:608340
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Retinal telangiectasia, Calf muscle hypertrophy, Scapular wing... OMIM:158900
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Hypotonia, Progressive intervertebral space na... ORPHA:480
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Myofibrillar myopathy, Forearm supination contracture... OMIM:300695
Myopathy, Myofibrillar, 7
Spinal rigidity, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion co... OMIM:617114
Schisis Association
Congenital diaphragmatic hernia, Spina bifida, Omphalocele ORPHA:63862
Pure Mitochondrial Myopathy
Fatigable weakness of bulbar muscles, Scoliosis, Scapular winging, Fatigable weakness of neck mus... ORPHA:254854
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Motor stereotypy, Aggressive behavior OMIM:619470
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Lumbar hyperlordosis, Skeletal muscle atrophy OMIM:613723
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Distal amyotrophy, Scoliosis, Limb muscle weakness, Gait ataxia, Intrinsic hand muscle atrophy, V... OMIM:614895
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Halperin-Birk Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Hypertonia, Death in childhood, Inguinal hernia, ... OMIM:618651
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Congenital foot contractures, Scoliosis, Distal amyotrophy, Kyphosis ORPHA:3454
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Axial hypotonia, Appendicular hypotonia, Kyphosis, Facial myokymia OMIM:620007
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Camptodactyly of finger, Scoliosis ORPHA:1520
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Death in childhood, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Limb... OMIM:609560
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Scoliosis, Dystonia, Skeletal muscle atrophy ORPHA:330050
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Scoliosis, Dystonia, Skeletal muscle atrophy OMIM:500001
Phosphoserine Aminotransferase Deficiency
Hypertonia, Cyanotic episode, Death in infancy OMIM:610992
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Spasticity, Tremor OMIM:300978
Charcot-Marie-Tooth Disease Type 2B1
Distal lower limb muscle weakness, Distal upper limb amyotrophy, Distal amyotrophy, Pelvic girdle... ORPHA:98856
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Scoliosis, Umbilical hernia, Macroglossia OMIM:614608
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Myasthenic Syndrome, Congenital, 20, Presynaptic
Fatigable weakness, Scoliosis, Facial palsy, Kyphosis, Skeletal muscle atrophy, Hypotonia, Arthro... OMIM:617143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature OMIM:617069
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos... OMIM:271530
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Scoliosis, Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle ... OMIM:616907
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Kyphoscoliosis, Scoliosis, Facial palsy, Limb muscle weakness, Generalized amyotro... OMIM:614707
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98863
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Spastic gait, Lower limb spasticity, Lower limb amyotrophy, Scoliosis, Upper limb ... OMIM:270800
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Paroxysmal dyskinesia, Syringomyelia, Abnormal vertebral morphol... ORPHA:261197
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Scoliosis, Distal amyotrophy, Upper limb muscle weakness, Fo... OMIM:302802
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Scoliosis, Umbilical hernia ORPHA:1488
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Progressive spinal muscular atrophy, Fatigable weaknes... ORPHA:803
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect, Spina bifida, Death in infancy ORPHA:1120
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Decreased nerve conduction velocity, Skeletal muscle atrophy, Rigidity OMIM:183050
Mitochondrial Complex I Deficiency, Nuclear Type 31
Death in childhood, Skeletal muscle atrophy, Hypotonia OMIM:618251
Congenital Myasthenic Syndrome
Kyphoscoliosis, Distal lower limb muscle weakness, Cyanosis, Spinal rigidity, Fatigable weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Distal lower limb muscle weakness, Cyanosis, Spinal rigidity, Fatigable weakness,... ORPHA:98914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Scoliosis, Kyphosis, Dystonia, Generalized hypotonia, Hypotonia, Lumbar hy... OMIM:616756
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Aids Wasting Syndrome
Skeletal muscle atrophy, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98853
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Craniofacial dystonia, Fiber type grouping, Skeletal muscle atrophy,... OMIM:620011
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Scoliosis, Hernia, Kyphosis ORPHA:94065
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Scoliosis, Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:101082
Congenital Myopathy 19
Facial hypotonia, Scoliosis, Congenital contracture, Axial hypotonia, Skeletal muscle atrophy, Ge... OMIM:618578
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Muscular dystrophy, Neonatal hypotonia, Facial palsy, Increased variability in mu... OMIM:616470
Familial Cervical Artery Dissection
Paralysis, Facial palsy, Abnormality of connective tissue ORPHA:36382
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scoliosis, Hyperlordosis, Scapular winging, Intrinsic hand muscle atrophy,... OMIM:620285
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Axial hypotonia, Dystonia, Skeletal muscle atrophy, Severe m... OMIM:614932
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Omphalocele OMIM:263210
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Masa Syndrome
Lower limb spasticity, Paraplegia, Hyperlordosis, Kyphosis, Spastic paraplegia OMIM:303350
Jansen-De Vries Syndrome
Hyperlordosis, Central diaphragmatic hernia OMIM:617450
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Neuromyotonia, Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Spasticity, Skeletal muscle atrophy, Hypotonia, Degeneration of anterior horn cell... ORPHA:2254
Zaki Syndrome
Congenital diaphragmatic hernia, Spastic gait, Hypertonia, Sacral dimple, Scoliosis OMIM:619648
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Spinal rigidity, Neonatal hypotonia, Reduced muscle collagen VI, Torticollis,... OMIM:254090
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Camptodactyly ORPHA:412035
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle... OMIM:620249
Charcot-Marie-Tooth Disease, Type 4B3
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Scoliosis, Upper limb mus... OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Distal amyotrophy, Scoliosis, Intrinsic hand muscle atrophy, Decreased amplitude of s... OMIM:616688
Oxoglutarate Dehydrogenase Deficiency
Death in childhood, Generalized amyotrophy, Rigidity, Dystonia, Hypotonia OMIM:203740
Congenital Myopathy 15
Vocal cord paralysis, Camptodactyly, Increased variability in muscle fiber diameter, Weakness of ... OMIM:620161
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Distal amyotrophy, Deposits immunoreactive to beta-amyloid protein, Lower lim... OMIM:254130
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Ataxia, Skeletal muscle atrophy, Myocl... OMIM:230650
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Scoliosis, Dystonia, Skeletal muscle atrophy, Decreased serum testosterone... ORPHA:101006
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Myopathy, Myofibrillar, 6
Muscular dystrophy, Spinal rigidity, Scoliosis, Facial palsy, Scapular winging, EMG: myopathic ab... OMIM:612954
Emanuel Syndrome
Congenital diaphragmatic hernia, Sacral dimple, Torticollis, Inguinal hernia, Scoliosis, Kyphosis... OMIM:609029
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Decreased nerve condu... ORPHA:101085
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Clumsiness, Vocal co... ORPHA:98757
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... ORPHA:98897
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder, Spastic para... OMIM:263570
Dystonia 1, Torsion, Autosomal Dominant
Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Scoliosis, Hyp... OMIM:128100
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Peroneal muscle weakn... ORPHA:101097
Amish Nemaline Myopathy
Neonatal hypotonia, Shoulder flexion contracture, EMG: myopathic abnormalities, Hip contracture, ... ORPHA:98902
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Short neck, Flexion contracture, Minicore myopathy, Arthrogryposis multiplex... ORPHA:178148
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... ORPHA:1834
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Hypertonia, Cyanotic episode, Spastic tetraparesis, Limb joint contrac... ORPHA:284417
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Oromandibular dystonia, Lower limb spasticity, Retrocollis, Lower-limb joint contract... ORPHA:300605
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Frequent falls, Kyphosis, ... OMIM:607155
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Dystonia, Skeletal muscle atrophy OMIM:616684
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Increased variability in muscle fiber diameter, Joint con... OMIM:160565
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Foot joint contracture, Abnormal peripheral a... ORPHA:457205
Congenital Myopathy 20
Scoliosis, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in mu... OMIM:620310
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Scoliosis, Spastic tetraparesis, Joint contracture, Skeletal muscle atrophy, Hypot... OMIM:617481
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, General... OMIM:130060
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Variegate Porphyria
Paralysis OMIM:176200
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Clonus, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske... OMIM:616867
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Death in early adulthood, Calf muscle hypertrophy, Scoliosis, EMG: m... OMIM:255160
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Tongue fasciculations, Truncal ataxia, Scoliosis, Facial palsy, Knee clonus, ... OMIM:211530
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
Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy, Generalized hypotonia, Weakness of f... ORPHA:254875
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Fasciculations, Scoliosis, Tremor, Triceps weakness, Intrinsic hand muscle atroph... OMIM:619574
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Kyphosis, Generalized amyotrophy, Proxim... OMIM:615084
Intellectual Disability, Birk-Barel Type
Hypomimic face, Neonatal hypotonia, Sacral dimple, Foot joint contracture, Fatigable weakness of ... ORPHA:166108
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Spinal rigidity, Upper limb muscle weakness, ... OMIM:613205
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Limb hypertonia, Scoliosis, Axial hypotonia, Skeletal muscle atrophy, Spastic tetr... OMIM:619527
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis ORPHA:85288
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy OMIM:617070
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Limb muscle weak... OMIM:619473
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Axial hypotonia, Skeletal muscle atrophy, Generalized hypotonia, Left ventricular ... OMIM:618228
Autosomal Dominant Spastic Paraplegia Type 19
Spastic gait, Lower limb spasticity, Lower limb amyotrophy, Lower limb muscle weakness, Spinal co... ORPHA:100999
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Skeletal muscle atrophy, Hypotonia ORPHA:477814
Congenital Myopathy 22A, Classic
Neonatal hypotonia, Spinal rigidity, Ragged-red muscle fibers, Scoliosis, Scapular winging, Conge... OMIM:620351
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:2075
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Scoliosis, Elbow flexion contracture, Generalized amyotrophy, Joint contracture OMIM:616516
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Scoliosis, Axial hypotonia, Joint contracture, Skeletal muscle atrophy, Spastic te... OMIM:615419
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Proximal amyotrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:608627
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Leukodystrophy, Hypomyelinating, 3
Kyphoscoliosis, Appendicular spasticity, Lower limb amyotrophy, Death in infancy, Axial hypotonia... OMIM:260600
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:607831
Schindler Disease, Type I
Optic atrophy, Spasticity, Generalized amyotrophy, Generalized hypotonia, Hypotonia OMIM:609241
Neuropathy, Congenital, With Arthrogryposis Multiplex
Distal amyotrophy, Arthrogryposis multiplex congenita, Hyperlordosis, Spasticity OMIM:162370
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema ORPHA:140989
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Distal lower limb muscle weakness, Lower limb amyotrophy, Decreased amplitude of ... ORPHA:99950
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Torticollis, Lower limb spasticity, Spastic paraplegia, Generalized amyotrophy, Up... OMIM:619686
Cerebellar Ataxia, Cayman Type
Hypomimic face, Dystonia, Skeletal muscle atrophy, Hypotonia OMIM:601238
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy, Hypotonia, Kyphosis ORPHA:1875
Marinesco-Sjogren Syndrome
Limb ataxia, Spasticity, Rimmed vacuoles, Scoliosis, Kyphosis, Gait ataxia, Centrally nucleated s... OMIM:248800
Congenital Disorder Of Glycosylation, Type Iibb
Axial hypotonia, Spasticity, Appendicular hypotonia, Skeletal muscle atrophy OMIM:620546
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Skeletal muscle atrophy, Macroglossia, Triangular to... OMIM:616827
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Lower limb am... ORPHA:99953
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Short neck ORPHA:958
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Scoliosis, Elbow flexion contracture, Upper limb muscle weakness, Wris... ORPHA:1143
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ... OMIM:606071
Myopathy Due To Myoadenylate Deaminase Deficiency
Hypotonia, Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Pontocerebellar Hypoplasia, Type 1A
Distal amyotrophy, Spinal muscular atrophy, Congenital contracture, Hypotonia, Degeneration of an... OMIM:607596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m... OMIM:620375
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Scoliosis, Generalized amyotrophy, Lower limb hypertonia, Lower limb muscl... ORPHA:1177
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Spasticity, Congenital finger flexion contractures, Achilles ten... ORPHA:363528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Muscle eosinophilia, Myositis, Facial palsy, Scapular winging, Proximal amyot... OMIM:253600
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia, Clonus ORPHA:319199
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Anterior clefting of vertebral bodies, Fused cervical vertebrae,... OMIM:265000
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Autosomal Recessive Spastic Paraplegia Type 5A
Lower limb spasticity, Lower limb amyotrophy, Scoliosis, Atrophy of the spinal cord, Upper limb m... ORPHA:100986
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner... ORPHA:268882
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Neurogenic bladder, Leg muscle stiffness, Paraparesis, Hemiparesis, Pr... ORPHA:43
Spinal muscular atrophy, type I, with congenital bone fractures
Acute infantile spinal muscular atrophy, Generalized amyotrophy, Decreased muscle mass, Flexion c... OMIM:271225
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Calf muscle hypertrophy, Proximal amyotrophy, Scapular winging OMIM:601287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Decreased mot... OMIM:118220
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Joint contr... OMIM:610099
Czeizel-Losonci Syndrome
Spina bifida occulta, Aplasia of the left hemidiaphragm, Spina bifida, Thoracolumbar scoliosis, P... ORPHA:2437
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Vocal cord pa... ORPHA:600
Emanuel Syndrome