Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
agrin
Synonyms:
nmf380,  NMF380,  Agrin

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 Agrn 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 Agrn by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Postsynaptic Congenital Myasthenic Syndromes
Triceps weakness, EMG: myopathic abnormalities, Upper limb muscle weakness, Type 1 muscle fiber p... ORPHA:98913
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Muscle fiber atrophy, Tip-toe gait, EMG: myopathic abnormalities, Limb-girdle muscle weak... ORPHA:98914
Myasthenic Syndrome, Congenital, 8
Facial palsy OMIM:615120

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy OMIM:271220
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... ORPHA:219
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Inability to walk, Quadriceps muscle atrophy, Triceps weakness, Tip-toe gait, Distal upper limb m... ORPHA:482601
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Impaired vibrat... ORPHA:320370
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Spastic Paraplegia 43, Autosomal Recessive
Babinski sign, Distal sensory impairment, Distal amyotrophy, Spastic paraplegia, Gait disturbance... OMIM:615043
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Clumsiness, Distal upper limb muscle weakness, EMG: myopathic abno... ORPHA:603
Spastic Paraplegia 38, Autosomal Dominant
Impaired vibration sensation in the lower limbs, First dorsal interossei muscle atrophy, Babinski... OMIM:612335
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Distal sensory impairment, Spinal muscular atrophy, Hammertoe, Tremor, D... OMIM:615048
Miyoshi Myopathy
Loss of ambulation, Triceps weakness, Tip-toe gait, Proximal muscle weakness in lower limbs, Calf... ORPHA:45448
Autosomal Recessive Spastic Paraplegia Type 62
Tip-toe gait, Lower limb pain, Difficulty walking, Knee flexion contracture, Clonus, Spastic gait... ORPHA:401785
Amyotrophic Lateral Sclerosis Type 4
Abnormal pyramidal sign, Babinski sign, Spastic paraplegia, Somatic sensory dysfunction, Gait dis... ORPHA:357043
Spastic Paraplegia 62, Autosomal Recessive
Tip-toe gait, Babinski sign, Difficulty walking, Spasticity, Clonus, Spastic gait, Lower limb spa... OMIM:615681
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal ... OMIM:182980
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... OMIM:615686
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Skeletal muscle atrophy OMIM:611105
Neuronopathy, Distal Hereditary Motor, Type I
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Distal amyotrophy, Hammertoe, ... OMIM:182960
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Neuropathy, Hereditary Motor, With Myopathic Features
Talipes equinovarus, Distal upper limb muscle weakness, Flexion contracture, Proximal muscle weak... OMIM:619216
Spastic Paraplegia 57, Autosomal Recessive
Loss of ambulation, Babinski sign, Lower limb amyotrophy, Hand muscle atrophy, Spastic paraplegia... OMIM:615658
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Difficulty walking, Babinski sign, Skeletal muscle atrophy OMIM:616282
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, F... OMIM:302802
Arthrogryposis, Distal, Type 10
Hamstring contractures, Tip-toe gait, Camptodactyly of finger, Wrist flexion contracture, Distal ... OMIM:187370
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:600794
Spastic Paraplegia 31, Autosomal Dominant
Ankle clonus, Babinski sign, Distal sensory impairment, Distal amyotrophy, Spastic paraplegia, Lo... OMIM:610250
Autosomal Spastic Paraplegia Type 30
Ataxia, Babinski sign, Distal sensory impairment, Distal amyotrophy, Somatic sensory dysfunction,... ORPHA:101010
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Spastic gait, Babinski sign, Skeletal muscle atrophy OMIM:612539
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Lower limb pain, Rigidity, Distal sensory impairment, Distal amyotrophy, Tre... OMIM:617018
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Hand tremor, Dysmetria, Tip-toe gait, Decreased motor nerve co... OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Tremor, Gait disturbance, Impair... ORPHA:99014
Spinal Muscular Atrophy, Type Iii
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... OMIM:253400
Klhl9-Related Early-Onset Distal Myopathy
Loss of ambulation, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality o... ORPHA:399081
Myopathy, Spheroid Body
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy OMIM:182920
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Neuronopathy, Distal Hereditary Motor, Type Vc
Babinski sign, Frequent falls, Difficulty walking, Chaddock reflex, Decreased compound muscle act... OMIM:619112
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Lower limb muscle weakness,... OMIM:300695
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Somatic sensory dysfunction, Hand muscle weakness, Hand tremor, Steppage gait OMIM:300905
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Babinski sign, Lower limb amyotrophy OMIM:617046
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... OMIM:615575
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... OMIM:601472
Hereditary Motor And Sensory Neuropathy V
Hypertonia, Lower limb pain, Decreased motor nerve conduction velocity, Babinski sign, Abnormal p... OMIM:600361
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... OMIM:500002
X-Linked Charcot-Marie-Tooth Disease Type 3
Hand muscle weakness, Inability to walk, Intrinsic hand muscle atrophy, Spastic paraparesis, Prox... ORPHA:101077
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Decreased movement range in interphalangeal joints, Rimmed vacuoles, Pelvic girdle muscle weaknes... OMIM:609115
Spastic Paraplegia 20, Autosomal Recessive
Upper limb spasticity, Spastic paraparesis, Dysmetria, Flexion contracture, Ankle clonus, Knee cl... OMIM:275900
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Autosomal Dominant Spastic Paraplegia Type 4
Ataxia, Impaired vibration sensation at ankles, Ankle clonus, Babinski sign, Lower limb muscle we... ORPHA:100985
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... ORPHA:2589
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spastic Paraplegia 17, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Babin... OMIM:270685
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Somatic sensory dysfunction, Difficulty walking, Impaired distal vibration sensation, Distal lowe... OMIM:615025
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle weakness, Hand muscle atrophy, Distal sensory impairment, Distal amyotrophy, Gait dis... OMIM:616280
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... OMIM:158600
Episodic Ataxia, Type 1
Abnormality of the hand, Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Epi... OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 76
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Lower limb muscle weakness, Gait ataxia, Lower ... ORPHA:488594
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Talipes equinovarus, Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotroph... ORPHA:99940
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Babinski sign, Abnormality of the foot musculature, Hand muscle atrophy, Di... ORPHA:100998
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle ... OMIM:208100
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Clumsiness, Talipes equinovarus, Limb ataxia, Impaired vibratory s... ORPHA:3115
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Tibial Muscular Dystrophy
Clumsiness, Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myop... ORPHA:609
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Skeletal muscle atrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Spastic Paraplegia 18, Autosomal Recessive
Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Gait disturbance, Upper limb spast... OMIM:611225
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Myopathy OMIM:545000
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal sensory impairment, Distal amyotrophy, Gait disturbance, Hammertoe, Steppage gait OMIM:616625
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelv... OMIM:167320
Autosomal Recessive Spastic Paraplegia Type 45
Babinski sign, Spastic paraplegia, Optic atrophy, Flexion contracture of toe, Knee flexion contra... ORPHA:320396
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... OMIM:608099
Myopathy And Diabetes Mellitus
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Impaired vibratory sensation, Wea... ORPHA:2596
Autosomal Recessive Spastic Paraplegia Type 63
Hypertonia, Skeletal muscle atrophy, Spasticity, Scissor gait ORPHA:401805
Merrf
Ataxia, Multiple lipomas, Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Distal amyotrophy, Frequent falls, Tremor, Gait ataxia, Spastic... OMIM:607317
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Joint stiffness, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involunt... ORPHA:98810
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Gne Myopathy
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Babinski sign, Increased variability in muscle fib... OMIM:616924
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations, Skeletal muscle atrophy ORPHA:85162
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal upper limb muscle weakness, Weakness of facial musculature, Distal sensory impairment, Foo... OMIM:619519
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Decreased hip abduction, Z-band streaming, Type 1 muscle fiber ... OMIM:605355
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... OMIM:617158
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Difficulty walking, Progressive spastic paraplegia, Limb tremor, Spastic gait, Low... ORPHA:401820
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... OMIM:605820
Autosomal Dominant Spastic Paraplegia Type 6
Limitation of movement at ankles, Impaired vibratory sensation, Babinski sign, Spastic paraplegia... ORPHA:100988
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Clumsiness, Amyotrophy of ankle musculature, Joint contracture of ... ORPHA:399086
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Mast Syndrome
Spastic paraparesis, Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Gait disturba... OMIM:248900
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy OMIM:181430
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Limb muscle weakness, Progressive gait atax... OMIM:607458
Dysequilibrium Syndrome
Gait disturbance, Cerebral palsy, Ataxia, Skeletal muscle atrophy ORPHA:1766
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Nemaline Myopathy 6
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Distal amyotrophy, Gait ataxia... OMIM:611302
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrop... OMIM:606595
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Distal amyotrophy OMIM:300489
Spinocerebellar Ataxia Type 43
Progressive cerebellar ataxia, Distal upper limb muscle weakness, Limb ataxia, Distal sensory imp... ORPHA:497764
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Hypertonia, Ataxia, Clumsiness, Intrinsic hand muscle atrophy, Decreased motor nerve conduction v... OMIM:616688
Behr Syndrome
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Progressi... OMIM:210000
Developmental And Epileptic Encephalopathy 69
Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia, Arthrogryposis multipl... OMIM:618285
Juvenile Primary Lateral Sclerosis
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... ORPHA:247604
Leber Hereditary Optic Neuropathy
Optic atrophy, Ataxia, Myopathy, Postural tremor ORPHA:104
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Metaphyseal chondrodysplasia OMIM:300660
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis... OMIM:105550
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor ner... OMIM:609260
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, First dorsal interossei muscle atrophy, Thenar muscle weakness, Dis... ORPHA:139536
Spastic Paraplegia 2, X-Linked
Loss of ambulation, Dysmetria, Flexion contracture, Babinski sign, Lower limb muscle weakness, Sp... OMIM:312920
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Spastic Paraplegia 64, Autosomal Recessive
Talipes equinovarus, Spastic paraplegia, Gait disturbance, Spasticity, Skeletal muscle atrophy OMIM:615683
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Tongue fasciculations,... OMIM:253550
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of the upper limb, Tremor, Distal upper limb amy... ORPHA:65684
Gemignani Syndrome
Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation ORPHA:2074
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Foot dorsiflexor weakness, Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Progressive... ORPHA:496756
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Arthrogryposis, Distal, Type 1B
Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Distal arthrogryposis, Arthrog... OMIM:614335
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Distal lower limb muscle weakness, Hip contracture, Talipes equinovarus, Tip-to... OMIM:615290
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Hand muscle ... ORPHA:435387
Pleoconial Myopathy With Salt Craving
Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal sensory impairment, Distal amyotr... OMIM:616040
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations, ... OMIM:183050
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor, Palmoplantar hyperkeratosis OMIM:309560
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Foot dorsiflexor weakness, Tremo... OMIM:618387
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Talipes equinovarus, Tip-toe gait, Babinski sign, Lower limb amyotrophy, Progressive spastic para... ORPHA:496689
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of the Achilles tendon, Inability to walk, Babinski sign, Spastic paraplegia, Optic a... ORPHA:431329
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... ORPHA:251282
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609200
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Imp... ORPHA:101075
Pyknoachondrogenesis
Stillbirth OMIM:265880
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle... OMIM:500003
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talipes equinovaru... OMIM:260300
Myopathy, Distal, 3
Clumsiness, Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimm... OMIM:610099
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Degeneration of anterior horn cells, Facial palsy, Fasciculations, Progressive distal ... OMIM:159950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Babinski si... OMIM:613954
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Hand tremor, Impaired vibration sensation in the lower limbs... ORPHA:352675
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Foot dorsiflexor weakness, Distal sensory impairment, Neuromyotonia, Fasciculations, Skeletal mus... OMIM:137200
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Inability to walk, Limited interphalangeal movement, Weakness of f... ORPHA:99948
Partington Syndrome
Flexion contracture, Camptodactyly, Limb dystonia, Focal dystonia, Lower limb spasticity OMIM:309510
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Gait disturbance, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy OMIM:618129
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Inguinal hernia, Degeneration of anterior horn ... OMIM:301830
Nemaline Myopathy 7
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Frequent falls, Gait disturba... OMIM:610687
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Distal lower limb muscle weakness, Spinal muscular atrophy, Interosseus muscle atrophy, Distal am... OMIM:607088
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Ulnar claw, Flexion contracture, Proximal muscle weakness in lower limbs, Decreased motor nerve c... OMIM:607706
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Waddling gait, Muscle fiber cytoplasmatic inclusio... OMIM:609524
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic neuropathy, Hand muscle weakness, Peroneal muscle weakness, Intrinsic hand muscle atrophy, ... ORPHA:101076
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Babinski sign, Paresis of extensor muscles of the big toe, Optic atro... ORPHA:99947
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Spastic Paraplegia 76, Autosomal Recessive
Ataxia, Dysmetria, Babinski sign, Distal sensory impairment, Lower limb muscle weakness, Spastic ... OMIM:616907
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Lower limb amyotrophy, Lower limb muscle weakness... OMIM:610357
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Difficulty walking, Spasticity, Myopathy OMIM:618242
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation, S... ORPHA:101078
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Distal sensory impairmen... OMIM:612954
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Unsteady gait, Skeletal musc... ORPHA:101097
Hyperekplexia 4
Hypertonia, Talipes equinovarus, Flexion contracture, Inguinal hernia, Adducted thumb, Myoclonus,... OMIM:618011
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotr... OMIM:614436
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... ORPHA:98763
Adult-Onset Nemaline Myopathy
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... ORPHA:171442
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign, Foot dorsiflexor weakness, Spinal muscu... OMIM:605726
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Action tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:254886
Caribbean Parkinsonism
Action tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotensio... ORPHA:97355
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... OMIM:609456
Epilepsy, Progressive Myoclonic, 9
Myoclonus, Gait ataxia, Short thumb, Generalized amyotrophy OMIM:616540
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Spastic Paraplegia 85, Autosomal Recessive
Torticollis, Impaired vibratory sensation, Babinski sign, Lower limb muscle weakness, Spastic par... OMIM:619686
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Foot dorsiflexor weakness,... OMIM:613287
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... ORPHA:139578
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Babinski sign... ORPHA:444099
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Distal amyotro... OMIM:615643
Spastic Paraplegia 5A, Autosomal Recessive
Upper limb spasticity, Impaired vibration sensation in the lower limbs, Babinski sign, Upper limb... OMIM:270800
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Hand muscle atrophy, Spasticity of facial m... OMIM:205100
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Distal upper limb muscle weakness, Split hand, Decreased motor nerve conductio... ORPHA:99950
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Type 1 muscle fiber predominance, Tetraparesis, Spasticity, Tongue fas... OMIM:618276
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... ORPHA:329478
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Impaired vibration sensation at ankles, Amyotrophy of ankle musculature, Intrinsic hand muscle at... ORPHA:90103
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Rigid Spine Syndrome
Hamstring contractures, Hip contracture, Elbow flexion contracture, Waddling gait, Skeletal muscl... ORPHA:97244
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Abnormality of the hand, Foot dorsiflexor weakness, Distal sensory impairment, Tremor, Ankle flex... OMIM:616668
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Clumsiness, Bradykinesia, Flexion contracture, EMG: myopathic a... ORPHA:171439
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Tremor, Shoulder... ORPHA:98902
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation ORPHA:2815
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Distal amyotrophy, Optic atrophy, Difficulty walking, Progressive spastic parapleg... ORPHA:468661
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Generalized amyotrophy, Flexion contracture, Joint hypermobility OMIM:618323
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talip... OMIM:128230
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy OMIM:608030
Wahab Syndrome
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... OMIM:615170
Masa Syndrome
Clinodactyly of the 5th finger, Hemiplegia/hemiparesis, Camptodactyly of finger, Spastic parapleg... ORPHA:2466
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... ORPHA:1878
Nemaline Myopathy 2
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:256030
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... ORPHA:352641
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Flexion contracture of finger, Limb ataxia, Proximal muscle weakness in lower ... ORPHA:101085
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis, Hip subluxation, Hip dislocation, Skeletal muscle atrophy, Tet... OMIM:256720
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Facial diplegia, Tip-toe gait, EMG: myopathic abnormalit... ORPHA:370980
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Lower limb pain, Upper limb pain, Spastic paraplegia, Abnormality of peripheral nerv... ORPHA:101005
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... OMIM:302801
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ge... ORPHA:166002
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Talipes equinovarus, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongu... OMIM:607596
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyot... OMIM:180800
Autosomal Dominant Spastic Paraplegia Type 3
Distal lower limb muscle weakness, Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankl... ORPHA:100984
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Involuntary movements, Tongue fasciculations, Skeletal muscle atrophy, ... OMIM:300816
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... OMIM:617282
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Ankle clon... ORPHA:521406
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Myopathy OMIM:551500
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation ORPHA:217012
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Foot dorsiflexor weakness, Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Spa... OMIM:617207
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... ORPHA:353327
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:612577
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb muscle weakness, Spast... OMIM:600363
Bethlem Myopathy 2
Flexion contracture, Distal joint laxity, Increased variability in muscle fiber diameter, Atrophi... OMIM:616471
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Increased endomysial connective tissue, Limited knee flexion/extension, EMG: m... ORPHA:266
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Opt... ORPHA:254343
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb hypertonia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb... ORPHA:171863
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait disturbance, Fa... OMIM:604484
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Distal amyotrophy OMIM:619099
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... OMIM:612937
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Joint contracture of the hand, Distal amyotrophy, Abnormal lower motor neuro... OMIM:611067
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramidal sign, Distal amyotrophy, Freq... OMIM:618438
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait, Type 2 muscle ... OMIM:619028
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... ORPHA:424107
Epilepsy, Progressive Myoclonic, 11
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials OMIM:618876
Marinesco-Sjögren Syndrome
Hypertonia, Ataxia, Abnormality of finger, Coxa valga, Muscular dystrophy, Hip dysplasia, Rigidit... ORPHA:559
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Loss of ambulation, Distal upper limb muscle weakness, Skeletal muscle hypertrophy, Proximal musc... OMIM:619566
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Chorea, Difficulty walking, Waddling ga... ORPHA:369840
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intention tremor, Dysdiadochok... ORPHA:1175
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Increased intramyocellular lipid droplets, Tremor OMIM:612016
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Lower limb muscle wea... ORPHA:225154
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Broad-based gait, Ulnar deviation of the hand, Joint contracture of the hand, Positive Romberg si... OMIM:258650
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Myopathy, Congenital, With Tremor
Flexion contracture, Tongue tremor, EMG: myopathic abnormalities, Scapular winging, Postural tremor OMIM:618524
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... OMIM:608323
Multiminicore Myopathy
Joint stiffness, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minic... ORPHA:598
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased intramyocellular... OMIM:614487
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... OMIM:619065
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Ulnar claw, Flexion contracture, Decreased motor nerve conduction velocity, Dist... OMIM:607684
Mitochondrial Complex I Deficiency, Nuclear Type 17
Ataxia, Rigidity, Gait disturbance, Skeletal muscle atrophy, Dystonia OMIM:618239
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... ORPHA:75840
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Talipes equinovarus, Distal sensory impairment, Difficulty walking, Paralysis, Skeletal muscle at... OMIM:613710
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Clinodactyly of the 5th finger, Short thumb, Camptodactyly OMIM:618453
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... ORPHA:267
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Spastic tetraplegia, Dystonia, Myopathy OMIM:618237
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Elbow flexion contra... ORPHA:306692
Autosomal Recessive Spastic Paraplegia Type 18
Hip contracture, Ankle flexion contracture, Inability to walk, Hand tremor, Impaired vibration se... ORPHA:209951
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Decreased motor nerve conduction veloc... OMIM:601098
Martsolf Syndrome 2
Spastic diplegia, Camptodactyly of finger, Overlapping toe, Camptodactyly OMIM:619420
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... OMIM:609284
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Clinodactyly, Myopathy OMIM:610140
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Ankle flexion contracture, Abnormal muscle fiber morphology, Weakness of facial ... ORPHA:1145
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... ORPHA:90117
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Increased variability in muscle fiber diameter, Optic atrophy, Gait disturbance, Spastici... OMIM:125250
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... OMIM:604801
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... OMIM:618435
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:310300
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... OMIM:603689
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Fasciculations, Difficulty walking, Myopathy OMIM:610717
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Difficul... OMIM:609285
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Progressive cerebellar ataxia, Talipes equinovarus, Intention tremor, Frequent falls, Optic atrop... ORPHA:466794
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Osteomyelitis, Decreased sensory nerve conduction velocity, Hand tremor, Decreased motor nerve co... OMIM:162400
Myoclonus, Familial, 1
Frequent falls, Ataxia, Falls, Myoclonus OMIM:614937
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Ulnar claw, Foot dorsiflexor weakness, Distal amyotrophy, Gait disturbance, Hammertoe, Decreased ... OMIM:618400
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Developmental And Epileptic Encephalopathy 37
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... OMIM:616981
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... ORPHA:397744
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Loss of ability to ... ORPHA:98911
Marinesco-Sjogren Syndrome
Ataxia, Coxa valga, Limb ataxia, Flexion contracture, Rimmed vacuoles, Gait ataxia, Cubitus valgu... OMIM:248800
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Glutathionuria
Tremor OMIM:231950
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Lower limb muscle weakness, Frequent fa... ORPHA:2590
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Talipes equinovarus, Nonprogressive muscular atrophy, Spinal muscular atrophy, D... OMIM:600175
Charcot-Marie-Tooth Disease Type 1A
Gait imbalance, Spontaneous pain sensation, Sensory ataxia, Decreased sensory nerve conduction ve... ORPHA:101081
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Myoclonus, Ab... ORPHA:363400
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Autosomal Dominant Spastic Paraplegia Type 19
Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotroph... ORPHA:100999
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spondylocamptodactyly
Camptodactyly of finger, Camptodactyly OMIM:600000
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Multiple lipomas, Osteoporosis, Skeletal muscle atrophy, Limitation of j... ORPHA:3294
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Limb fasciculations, Distal lower limb amyotrophy, Achilles tendon contractu... ORPHA:324442
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Areflexia of upper limbs, Foot dorsiflexor weakness, Polyminimyocl... OMIM:619574
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Talipes equinovarus, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexo... OMIM:620011
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Optic atrophy, Gait ataxia, Flexion contracture of toe, Slurred speech OMIM:619323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Babinski sign, Head titub... OMIM:615491
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Loss of ambulation, Abnormal pyramidal sign, Fasciculations, Dista... OMIM:608627
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Optic atrophy, Spasticity, Upper motor neuron dysfunction, Skeletal musc... OMIM:500001
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Skeletal muscle atrophy, Flexion contracture, Spinal muscular atrophy OMIM:616081
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Myopathy OMIM:253320
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spasticity, Dyst... OMIM:614254
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Babinski sign, Foot dorsiflexor weakness, Spastic paraplegia, Tremor, Gai... OMIM:616586
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal amyotrophy OMIM:608673
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Fetal Akinesia Deformation Sequence 4
Flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Rocker bottom foot, Skele... OMIM:618393
Spinocerebellar Ataxia Type 36
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... ORPHA:276198
Microcephaly, Seizures, And Developmental Delay
Ataxia, Skeletal muscle atrophy OMIM:613402
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Distal... ORPHA:313772
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses OMIM:264010
Dystonia 16
Torticollis, Bradykinesia, Lower limb pain, Abnormal pyramidal sign, Parkinsonism, Unsteady gait,... ORPHA:210571
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Hammerto... OMIM:615376
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... ORPHA:300605
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Sensory ataxia, Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty ... OMIM:614895
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Inguinal hernia, Dysdiadochokinesis, Interosseus muscle atrophy, Fiber type grouping, ... OMIM:619903
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... OMIM:270500
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Waddling gait, Scapular winging, Congenital contracture, Myopathy OMIM:605637
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Upper limb muscle w... OMIM:605253
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Fasciculations, Skeletal muscle atrophy, Spasticity OMIM:614808
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal amyotrophy, Hammertoe, Impaired distal vibratio... OMIM:610100
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Babinski sign, Distal amyotrophy, Abnorma... OMIM:602099
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Dystonia OMIM:618497
X-Linked Immunoneurologic Disorder
Hypertonia, Hemiplegia/hemiparesis, Myopathy ORPHA:2571
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle weakness, Inability to walk, Distal upper limb muscle weakness, Pelvic girdle muscle ... ORPHA:98856
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Gait disturbance, Difficulty walking, M... ORPHA:352470
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, ... OMIM:118210
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Camptodactyly OMIM:217990
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Elbow flexion contracture, Spastic tet... OMIM:619470
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Flexion contracture of finger, Sensory ataxia, Decreased sensory nerve ... OMIM:609033
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Combined Saposin Deficiency
Myoclonus, Babinski sign, Hyperkinetic movements, Optic atrophy, Fasciculations OMIM:611721
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Ankle flexion contracture, Flexion contracture, Upper limb muscle weakness, Lowe... ORPHA:1143
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy, Distal sensory impairment, Steppage gait OMIM:607677
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... ORPHA:401768
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Clumsiness, Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscl... OMIM:253600
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Autosomal Recessive Spastic Paraplegia Type 66
Talipes equinovarus, Impaired vibration sensation in the lower limbs, Limb hypertonia, Lower limb... ORPHA:401815
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Enhancement of the ... OMIM:613608
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Hypertonia, Dystonia, Myopathy ORPHA:26792
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory impairment, Steppage gait OMIM:607731
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Tremor, Difficulty walking, Abnormality of somatosensory evoked... ORPHA:206594
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Bone pain, Recurrent fractures, Increased spinal bone density, Babinski sign, Limb fasciculations... ORPHA:329475
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... OMIM:619862
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Lower limb muscle weakness, Progressive spasti... ORPHA:306511
Spinocerebellar Ataxia Type 1
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... ORPHA:98755
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Fingerprint Body Myopathy
Myopathy OMIM:305550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalit... OMIM:606612
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Joint hyperflexibility, Gait disturbance, Skeletal muscle atrophy, Limitatio... ORPHA:157973
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Distal amyotrophy, Distal s... OMIM:118300
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... ORPHA:254361
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Palmar hyperkeratosis, Diffuse palmoplantar hyperker... ORPHA:2199
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Hereditary Geniospasm
Chin myoclonus, Abnormality of mentalis muscle ORPHA:53372
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Babinski sign, Distal amyotrophy, Spasticity, Arthrogryposis multiplex congenit... OMIM:162370
Leber Optic Atrophy
Optic neuropathy, Ataxia, Optic atrophy, Postural tremor, Dystonia, Myopathy OMIM:535000
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Right ventricular hypertr... ORPHA:353
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia, Hypomimic face OMIM:128235
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Decreased nerve conduction velocity, EMG: myopathic abnormalities, Lower limb ... ORPHA:99939
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... ORPHA:488650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Calf muscle hypertrophy... OMIM:608840
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability in muscle fib... OMIM:619790
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Talipes equinovarus, EMG: myopathic abnormalities, Facial palsy, Increased... OMIM:614399
Perching Syndrome
Flexion contracture, Camptodactyly OMIM:617055
Charcot-Marie-Tooth Disease Type 4G
Gait imbalance, Loss of ambulation, Motor conduction block, Talipes equinovarus, Distal upper lim... ORPHA:99953
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
X-Linked Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98863
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Pseudopapilledema, Tetraparesis, Paralysis ORPHA:140989
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Thenar muscle atrophy, Sensory ataxia, Distal upper limb muscle weakness, Spastic paraparesis, Im... OMIM:500013
Oxoglutarate Dehydrogenase Deficiency
Dysmetria, Rigidity, Falls, Gait ataxia, Unsteady gait, Dystonia, Generalized amyotrophy OMIM:203740
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... ORPHA:98853
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Oculogyric crisis, Optic atrophy, Tremor, Difficulty walking, Skeletal muscle ... ORPHA:330050
Autosomal Dominant Spastic Paraplegia Type 38
Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Impaired vibration sensation ... ORPHA:171617
Spastic Paraplegia 26, Autosomal Recessive
Ataxia, Dysmetria, Tip-toe gait, Babinski sign, Distal amyotrophy, Spastic paraplegia, Frequent f... OMIM:609195
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Facial myokymia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Legg-Calvé-Perthes Disease
Avascular necrosis, Delayed skeletal maturation, Skeletal muscle atrophy ORPHA:2380
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Babinski sign, Lower limb amyotrophy, Lower limb muscle weakness,... OMIM:300266
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... OMIM:618823
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... OMIM:606183
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy OMIM:607734
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy OMIM:182815
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Talipes equinovarus, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue... OMIM:616827
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... OMIM:616852
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response, Impaired vibration sensation in the lo... ORPHA:320406
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia OMIM:608105
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... ORPHA:137898
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... ORPHA:610
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosis OMIM:616230
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Myoclonus, Elbow flexion contracture, Knee flexion contracture OMIM:619303
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis, Knee flexion contracture, Arthrogryposis multiplex congenita, Skeleta... OMIM:616286
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Spast... OMIM:105400
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Lower limb musc... OMIM:300100
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... OMIM:160150
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy ORPHA:270
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Congenital muscular dystrophy, Waddling gait, Facial palsy, Myopathy OMIM:602541
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Abnormality of toe, Muscular dystrophy, Progressive distal muscular atrophy, Somatic sens... ORPHA:459033
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased connective tissue, Involuntary movement... ORPHA:238329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Calf muscle hypertrophy, EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Muscular dy... OMIM:611307
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteovalgus OMIM:614257
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Abnormal autonomic nervous system physiology, Dysdiadochokinesis, Oculogyric crisis, Park... OMIM:618049
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Limitation of movement at ankles, Increased variability i... ORPHA:437572
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Chorea, Difficulty walking, Limb-girdle muscular dystroph... ORPHA:369847
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Dystonia OMIM:617493
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... OMIM:183090
Poliomyelitis
Paraparesis, Inability to walk, Hypoplasia of the musculature, Abnormal skeletal muscle morpholog... ORPHA:2912
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... OMIM:606777
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Leg muscle s... ORPHA:43
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Ataxia, Dysmetria, Flexion contracture, Intention tremor, Myoclonus, Babinski sign, D... OMIM:616505
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Flexion contracture of finger, Proximal muscle weakness in lower limbs, Babins... ORPHA:466768
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber... OMIM:258450
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy