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
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... ORPHA:98913
Presynaptic Congenital Myasthenic Syndromes
Arthrogryposis multiplex congenita, EMG: myopathic abnormalities, Congenital hip dislocation, Mus... ORPHA:98914
Myasthenic Syndrome, Congenital, 8
Facial palsy, Respiratory insufficiency 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
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy OMIM:271220
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... ORPHA:219
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... ORPHA:482601
Autosomal Recessive Spastic Paraplegia Type 43
Babinski sign, Ankle flexion contracture, Spastic gait, Knee flexion contracture, Impaired vibrat... ORPHA:320370
Spastic Paraplegia 43, Autosomal Recessive
Babinski sign, Ankle flexion contracture, Gait disturbance, Knee flexion contracture, Distal sens... OMIM:615043
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Distal Myopathy, Welander Type
Clumsiness, Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, ... ORPHA:603
Spastic Paraplegia 17, Autosomal Dominant
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... OMIM:270685
Spastic Paraplegia 38, Autosomal Dominant
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... OMIM:612335
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Hammertoe, Fasciculations, Tremor, Distal sensory impairment, Calf muscl... OMIM:615048
Miyoshi Myopathy
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... ORPHA:45448
Autosomal Recessive Spastic Paraplegia Type 62
Clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Knee flexion contracture, T... ORPHA:401785
Amyotrophic Lateral Sclerosis Type 4
Babinski sign, Gait disturbance, Skeletal muscle atrophy, Spastic paraplegia, Abnormal pyramidal ... ORPHA:357043
Spastic Paraplegia 62, Autosomal Recessive
Babinski sign, Clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Tip-toe gait... OMIM:615681
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... ORPHA:276435
Neuronopathy, Distal Hereditary Motor, Type I
Babinski sign, Impaired vibration sensation at ankles, Hammertoe, Hypertonia, Distal amyotrophy, ... OMIM:182960
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Skeletal muscle atrophy, Tremor, Ataxia, Spasticity, Flexion contracture OMIM:611105
Neuropathy, Hereditary Motor, With Myopathic Features
Proximal muscle weakness in lower limbs, Paresthesia, Talipes equinovarus, Frequent falls, EMG: m... OMIM:619216
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Babinski sign, Skeletal muscle atrophy, Difficulty walking OMIM:616282
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Hip d... OMIM:302802
Arthrogryposis, Distal, Type 10
Distal arthrogryposis, Hamstring contractures, Arthrogryposis multiplex congenita, Wrist flexion ... OMIM:187370
Bethlem Myopathy 1
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... OMIM:158810
Spastic Paraplegia 42, Autosomal Dominant
Spastic paraplegia, Babinski sign, Spastic gait, Skeletal muscle atrophy OMIM:612539
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:600794
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Distal sensory impairment, Distal amyotrophy, Limb ataxia, Gait ataxia,... OMIM:617018
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Optic atrophy, Skeletal muscle hypertrophy, Impaired pain sensation, Paraparesi... ORPHA:99014
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Leg muscle stiffness, Distal se... ORPHA:101010
Myopathy, Spheroid Body
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Tremor, Waddling gait, Broad-based gait OMIM:182920
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Impaired distal tactile sensat... ORPHA:399081
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Babinski sign, Gait disturbance, Hand muscle weakness,... OMIM:302800
Neuronopathy, Distal Hereditary Motor, Type Vc
Babinski sign, Frequent falls, Chaddock reflex, Distal lower limb amyotrophy, Decreased compound ... OMIM:619112
Scapuloperoneal Myopathy, X-Linked Dominant
Myopathy, Skeletal muscle atrophy, Steppage gait, Waddling gait, Flexion contracture, Scapular wi... OMIM:300695
Spastic Paraplegia 31, Autosomal Dominant
Babinski sign, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Distal sensory impai... OMIM:610250
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Hand tremor, Hand muscle weakness, Somatic sensory dysfunction OMIM:300905
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Difficulty walking OMIM:158580
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Gait disturba... ORPHA:101077
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Triceps weakness, Weakness of the intrinsic hand muscl... OMIM:615575
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Babinski sign, Lower limb amyotrophy OMIM:617046
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Frequent falls, Limb muscle weakness, H... OMIM:600361
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... OMIM:601472
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Gait disturbance, Skeletal muscle atrophy, Scissor gait OMIM:615686
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... OMIM:609115
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Myoclonus, Generalized amyotrophy, Progressive gait ataxia, Intention tremor, Progressive cerebel... ORPHA:2589
Autosomal Dominant Spastic Paraplegia Type 4
Babinski sign, Impaired vibration sensation at ankles, Lower limb spasticity, Leg muscle stiffnes... ORPHA:100985
Lethal Congenital Contracture Syndrome 4
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture OMIM:614915
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Knee clonus, Upper limb spasticity, Distal amyotrophy, Dysmetria, Hammertoe, Spast... OMIM:275900
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Skeletal muscle atrophy, Distal amyotrophy OMIM:614369
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... OMIM:158600
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired temperature sensation, Upper limb amyotrophy, Talipes equinovarus, Limb fasciculations, ... ORPHA:99940
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia, Abnormality... OMIM:160120
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology, Distal amyotrophy, Lo... OMIM:607641
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Babinski sign, Hand muscle weakness, Spastic gait, Abnormality of the foot muscu... ORPHA:100998
Autosomal Recessive Spastic Paraplegia Type 76
Babinski sign, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Ankle clonus, Limb ataxia,... ORPHA:488594
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Roussy-Lévy Syndrome
Clumsiness, Postural tremor, Babinski sign, Decreased motor nerve conduction velocity, Skeletal m... ORPHA:3115
Spastic Paraplegia 18, Autosomal Recessive
Babinski sign, Gait disturbance, Skeletal muscle atrophy, Upper limb spasticity, Lower limb spast... OMIM:611225
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:614881
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Gait disturbance, Hammertoe, Steppage gait, Distal sensory impairment, Distal amyotrophy OMIM:616625
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ataxia... OMIM:500002
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Skeletal muscle atrophy, Talipes equinovarus, Arthrogryposis multiplex congenita, Conge... OMIM:208100
Autosomal Recessive Spastic Paraplegia Type 63
Hypertonia, Skeletal muscle atrophy, Spasticity, Scissor gait ORPHA:401805
Myopathy And Diabetes Mellitus
Proximal amyotrophy, Babinski sign, Pelvic girdle muscle weakness, Weakness of facial musculature... ORPHA:2596
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Talipes equinovarus, Achilles tendon contracture, Knee flexion contracture, Fasc... OMIM:615290
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Myoclonus, Ataxia, Spasticity OMIM:545000
Merrf
Optic atrophy, Myopathy, Ragged-red muscle fibers, Ataxia, Multiple lipomas ORPHA:551
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis OMIM:182610
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipid content, Pe... ORPHA:609
Spastic Ataxia 9, Autosomal Recessive
Babinski sign, Frequent falls, Hammertoe, Ataxia, Spasticity, Distal amyotrophy, Delayed skeletal... OMIM:618438
Myopathy, Distal, 5
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... OMIM:608099
Neuronopathy, Distal Hereditary Motor, Type Iic
Skeletal muscle atrophy, Steppage gait, Distal lower limb muscle weakness, Distal upper limb musc... OMIM:613376
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy OMIM:615025
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, D... OMIM:607317
Polyglucosan Body Myopathy 2
Skeletal muscle atrophy, Limb-girdle muscle weakness OMIM:616199
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Paresthesia, Fasciculations ORPHA:85162
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Nemaline Myopathy 5
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, T... OMIM:605355
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Mast Syndrome
Babinski sign, Gait disturbance, Apraxia, Spastic paraplegia, Lower limb muscle weakness, Spastic... OMIM:248900
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Rimmed ... OMIM:616924
Spinal Muscular Atrophy, Type Iii
Skeletal muscle atrophy, Limb fasciculations, Hand tremor, Tongue fasciculations, Spinal muscular... OMIM:253400
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Lower limb spasticity, Difficul... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... OMIM:619519
Nonaka Myopathy
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... OMIM:605820
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Split hand, Distal sens... OMIM:606595
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Gait disturbance, Skeletal muscle atrophy, Limitation of movement... ORPHA:100988
Myopathy, Distal, With Rimmed Vacuoles
Z-band streaming, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... ORPHA:275872
Spastic Paraplegia 2, X-Linked
Babinski sign, Optic atrophy, Skeletal muscle atrophy, Dysmetria, Spastic gait, Lower limb spasti... OMIM:312920
Arthrogryposis, Distal, Type 1B
Contractures involving the joints of the feet, Distal arthrogryposis, Rocker bottom foot, Talipes... OMIM:614335
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... ORPHA:98810
Finnish Upper Limb-Onset Distal Myopathy
Clumsiness, Weakness of the intrinsic hand muscles, Steppage gait, EMG: myopathic abnormalities, ... ORPHA:399086
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Scapuloperoneal Myopathy, Myh7-Related
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature OMIM:181430
Autosomal Recessive Spastic Paraplegia Type 45
Babinski sign, Ankle flexion contracture, Optic atrophy, Flexion contracture of toe, Spastic gait... ORPHA:320396
Spinocerebellar Ataxia Type 43
Foot dorsiflexor weakness, Distal upper limb muscle weakness, Cogwheel rigidity, Distal sensory i... ORPHA:497764
Dysequilibrium Syndrome
Cerebral palsy, Ataxia, Gait disturbance, Skeletal muscle atrophy ORPHA:1766
Spinocerebellar Ataxia 18
Babinski sign, Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Progressive gait ataxia,... OMIM:607458
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Hand tremor, Tongue fasciculations, Spinal muscular atrophy, Degeneration of... OMIM:271150
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, ... ORPHA:247604
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:611369
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Optic atrophy, Dysmetria, Hamstring cont... OMIM:210000
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... ORPHA:95434
Spinal Muscular Atrophy, Distal, X-Linked 3
Distal sensory impairment, Spinal muscular atrophy, Unsteady gait, Distal amyotrophy OMIM:300489
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Fasciculations OMIM:182980
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis, Distal amyo... ORPHA:496756
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Monomelic Amyotrophy
Abnormality of the upper limb, Distal upper limb amyotrophy, Fasciculations, Tremor, Abnormality ... ORPHA:65684
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Gait disturbance, Tremor, Metaphyseal chondrodysplasia, Spastic paraplegia OMIM:300660
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Myopathy, Optic atrophy ORPHA:104
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Paraparesis, A... OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Limb muscle weakness, Di... OMIM:609260
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Hand tremor, Tongue fasciculations, Spinal muscular atrophy, Degeneratio... OMIM:253550
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Gait disturbance, Limb muscle weakness OMIM:609273
Gemignani Syndrome
Ataxia, Impaired pain sensation, Skeletal muscle atrophy, Hemiplegia/hemiparesis ORPHA:2074
Distal Hereditary Motor Neuropathy Type 5
First dorsal interossei muscle atrophy, Hammertoe, Thenar muscle weakness, Abnormal motor nerve c... ORPHA:139536
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Spastic Paraplegia 64, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy, Talipes equinovarus, Spasticity, Spastic paraplegia OMIM:615683
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Hereditary Myopathy With Early Respiratory Failure
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... ORPHA:178464
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Rigidity, Bradykinesia, Fasciculations, Decreased nerve conduction veloc... OMIM:183050
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... OMIM:614065
Pleoconial Myopathy With Salt Craving
Paralysis, Proximal amyotrophy, Myopathy OMIM:262900
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Babinski sign, Upper limb amyotrophy, Talipes equinovarus, Lower limb spasticity, Knee flexion co... ORPHA:496689
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Hammertoe, Distal sensory impairment, Waddling gait, Decreased compound musc... OMIM:616040
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Progressive distal muscular atrophy, Myoclonus, Facial palsy, Fasciculations, Tre... OMIM:159950
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Gait imbalance, Paresthesia, Quadriceps muscle weakness, Proximal muscle weakness in upper limbs,... ORPHA:435387
Autosomal Recessive Spastic Paraplegia Type 57
Babinski sign, Optic atrophy, Abnormality of peripheral nerve conduction, Distal lower limb amyot... ORPHA:431329
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Palmoplantar hyperkeratosis, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Hammertoe, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Distal amyotrophy... OMIM:618387
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Babinski sign, Spastic paraparesis, Spastic ataxia OMIM:613672
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Tremor, Ataxia, Distal l... ORPHA:101075
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Developmental And Epileptic Encephalopathy 69
Dystonia, Myoclonus, Arthrogryposis multiplex congenita, Spastic tetraplegia, Inability to walk, ... OMIM:618285
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weak... OMIM:613954
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... OMIM:609200
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Alpers-Huttenlocher Syndrome
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... ORPHA:726
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... ORPHA:611
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Ataxia, Myopathy ORPHA:2579
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy OMIM:608323
Pyknoachondrogenesis
Stillbirth OMIM:265880
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Talipes equinovarus, Abnormality of extrapyramid... OMIM:260300
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... ORPHA:352675
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Myopathy, Distal, 3
Clumsiness, Steppage gait, Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed va... OMIM:610099
X-Linked Charcot-Marie-Tooth Disease Type 2
Peroneal muscle weakness, Babinski sign, Gait disturbance, Hand muscle weakness, Decreased motor ... ORPHA:101076
Charcot-Marie-Tooth Disease Type 4A
Quadriceps muscle weakness, Joint contracture of the hand, Weakness of facial musculature, Should... ORPHA:99948
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinal Muscular Atrophy, X-Linked 2
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Tongue fascicula... OMIM:301830
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Upper limb muscle weakness,... OMIM:607678
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Myofibrillar ... OMIM:609524
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular atrophy, Distal am... OMIM:607088
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Gait disturbance, Myopathy, Scapular winging, Muscle fiber splitting OMIM:618129
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Spastic Paraplegia 76, Autosomal Recessive
Babinski sign, Skeletal muscle atrophy, Dysmetria, Lower limb spasticity, Distal sensory impairme... OMIM:616907
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Fasciculations, Distal senso... OMIM:614436
Nemaline Myopathy 7
Gait disturbance, Minicore myopathy, Myofibrillar myopathy, Joint hypermobility, Nemaline bodies OMIM:610687
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresthesia, Quadriceps muscle weakness, Foot pain, Somatic sensory dysfunction, Hand tremor, Dis... ORPHA:99947
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... ORPHA:101078
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic para... OMIM:610357
Myopathy, Myofibrillar, 6
Diaphragmatic paralysis, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee... OMIM:612954
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Talipes equinovarus, Quadriceps muscle weakness, Proximal muscle weakness in upper limbs, Distal ... ORPHA:101097
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign, Hammertoe, Split hand, Distal amyotroph... OMIM:605726
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Spastic gait, Lower limb spasticity, Progressive spastic paraparesis, Distal lower... ORPHA:444099
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Hyperekplexia 4
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Myoclonus, Inguinal hernia, Hypertoni... OMIM:618011
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Skeletal muscle atrophy, Talipes equinovarus, Contractures of the joints of the lower ... OMIM:613710
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormality of the Achilles tendon, L... ORPHA:98763
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Myopathy, Hand muscle weakness, Ragged-red muscle fibers, Paresthesia, Facial pals... ORPHA:254886
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Fasciculations OMIM:271200
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphol... OMIM:602099
Adult-Onset Nemaline Myopathy
Myopathy, Increased muscle lipid content, Bradykinesia, EMG: myopathic abnormalities, Difficulty ... ORPHA:171442
Epilepsy, Progressive Myoclonic, 9
Short thumb, Myoclonus, Generalized amyotrophy, Gait ataxia OMIM:616540
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Skeletal muscle atrophy, Tongue fasciculations, Ataxia, Inability to walk, Spasticity, ... OMIM:618276
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Dystonia, Limb muscle weakness, Amyotr... OMIM:167320
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Muscular Dystrophy, Congenital, Merosin-Positive
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... OMIM:609456
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypotension, Myoc... ORPHA:97355
Partington Syndrome
Focal dystonia, Lower limb spasticity, Flexion contracture, Camptodactyly, Limb dystonia OMIM:309510
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Myopathy, Ataxia, Spasticity, Difficulty walking OMIM:618242
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Decreased motor nerve conduction velocity, Upper limb amyotrophy, Hammertoe, Spl... ORPHA:99950
Amish Nemaline Myopathy
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... ORPHA:98902
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Tremor, Distal sensory impairment, Foot dorsiflexor weakness, Abnormal... OMIM:616668
Adult-Onset Distal Myopathy Due To Vcp Mutation
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Frequent falls, Facial diplegia, EM... ORPHA:329478
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Impaired vibration sensation at ankles, Areflexia of upper limbs, Upper limb amyotrophy, Distal u... ORPHA:90103
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... OMIM:615424
Mucus Inspissation Of Respiratory Tract
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis OMIM:253240
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Ragged-red muscle fibers, Skeletal muscle atrophy, Fasciculations, Tetrapl... OMIM:300816
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Impaired pain sensation, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis ORPHA:2815
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Gait disturbance, Impaired pain... ORPHA:139578
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Optic atrophy, Distal amyotrophy, Distal lower limb muscle weakness, Progressive s... ORPHA:468661
Myopathy With Giant Abnormal Mitochondria
Limb-girdle muscle atrophy, Myopathy OMIM:255140
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscl... ORPHA:171439
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Rigid Spine Syndrome
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Waddling gait, Elbow ... ORPHA:97244
Wahab Syndrome
Ankylosis, Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Cam... OMIM:615170
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Fasciculations, Proximal muscle weakness in upper limbs, So... ORPHA:101085
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Skeletal muscle atrophy, Osteoporosis, Tetraplegia, Hip dislocation, Hip subluxation, Recurrent f... OMIM:256720
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... ORPHA:97240
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Hammertoe, Distal sensory impairment, Action tremor, D... OMIM:180800
Myasthenic Syndrome, Congenital, 25, Presynaptic
Joint hypermobility, Myopathy, Generalized amyotrophy, Flexion contracture OMIM:618323
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... ORPHA:352641
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Paraparesis, Spastic paraplegia, Lower limb pain, Upp... ORPHA:101005
Amyotrophic Lateral Sclerosis 2, Juvenile
Babinski sign, Dystonia, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... OMIM:205100
Masa Syndrome
Gait disturbance, Hand clenching, Camptodactyly of finger, Spastic paraplegia, Clinodactyly of th... ORPHA:2466
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... OMIM:604286
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Upper limb muscle weakness,... OMIM:302801
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Talipes equinovarus, Writer's cramp, Torticollis, Brady... OMIM:128230
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... ORPHA:1878
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Myopathy OMIM:551500
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Nemaline Myopathy 2
Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, Arthrogryposis m... OMIM:256030
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Increased intramyocellular lipid droplets, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spastic tetraplegia, Ataxia, Spasticity, Distal amyotrophy, Spinal muscular atroph... OMIM:617207
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Frequent falls, Facial diplegia, Achilles tendon contracture, EMG: myopathic... ORPHA:370980
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hype... ORPHA:254343
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy OMIM:253900
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Gait disturbance, Hand tremor, Fasciculations, Tetraplegia, Distal sensory i... OMIM:604484
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... OMIM:615643
Autosomal Dominant Spastic Paraplegia Type 3
Babinski sign, Gait disturbance, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Lower lim... ORPHA:100984
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Distal amyotrophy OMIM:619099
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... OMIM:618655
Spinocerebellar Ataxia Type 31
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity OMIM:616981
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hammertoe, Limb muscle weakne... OMIM:613287
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Dystonia 6, Torsion
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... OMIM:602629
Congenital Myasthenic Syndromes With Glycosylation Defect
Myopathy, Ragged-red muscle fibers, Frequent falls, Muscle fiber tubular inclusions, Facial palsy... ORPHA:353327
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Autosomal Dominant Spastic Paraplegia Type 42
Babinski sign, Clonus, Lower limb amyotrophy, Spastic gait, Lower limb spasticity, Impaired vibra... ORPHA:171863
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... OMIM:613204
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy, Genu varum, Arthralgia of the hip, Reduced arm span, Fragmentation of the metacarpal ep... ORPHA:166002
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem ga... OMIM:619028
Epilepsy, Progressive Myoclonic, 11
Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Ataxia OMIM:618876
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Limited elbow flexion, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, L... ORPHA:266
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... OMIM:612937
Pontocerebellar Hypoplasia, Type 1A
Congenital contracture, Fasciculations, Ataxia, Spinal muscular atrophy, Degeneration of anterior... OMIM:607596
Marinesco-Sjögren Syndrome
Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle a... ORPHA:559
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Talipes equinovarus, Joint contracture of the hand, Waddling gait, Ab... OMIM:611067
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Chorea, Muscle fiber atrophy, Muscular dystrophy, Waddling gait, Truncal ataxia, Limb-g... ORPHA:369840
Bethlem Myopathy 2
Myopathy, Atrophic scars, Hip dislocation, Increased variability in muscle fiber diameter, Flexio... OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Congenital Myopathy With Myasthenic-Like Onset
Gait disturbance, Myopathy, Minicore myopathy, Scapular winging, EMG: myopathic abnormalities, Mu... ORPHA:424107
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Ulnar deviation of the hand, Distal upper limb amyotrophy, Joint contracture of th... OMIM:258650
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... ORPHA:306692
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... OMIM:254110
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Leg muscle st... ORPHA:391411
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Fasciculations, Split hand, Distal sensory impairment, Hypertonia, Abnormal pyramidal sign, Foot ... OMIM:616688
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis ORPHA:231445
Myopathy, Congenital, With Tremor
Postural tremor, EMG: myopathic abnormalities, Flexion contracture, Scapular winging, Tongue tremor OMIM:618524
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Difficulty walking, Fasciculations OMIM:610717
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... ORPHA:598
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Myopathy, Abnormal auditory evoked potentials, Optic atrophy, Ataxia, Increased... OMIM:125250
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Facial palsy, Nemaline bodie... OMIM:607684
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... ORPHA:267
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Distal sensory impairment, Inability to walk, Abnormal peripheral ac... ORPHA:90117
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly OMIM:618453
Muscular Dystrophy, Congenital, 1B
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... OMIM:604801
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Choreoathetosis, Frequent fal... ORPHA:225154
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Skeletal muscle atrophy OMIM:613402
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Involuntary movements, Gait disturbance, Dystonia, Optic atrophy, Chorea, Myoclonus, Ataxia, Cran... OMIM:617282
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Skeletal muscle atrophy, Dysmetria, Hand tremor, Fasciculations, I... ORPHA:276198
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... ORPHA:1145
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Short toe, Sandal gap, ... OMIM:618435
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Heart-Hand Syndrome, Slovenian Type
Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brachydactyly OMIM:610140
Severe Neurodegenerative Syndrome With Lipodystrophy
Myopathy, Poor motor coordination, Myoclonus, Reduced subcutaneous adipose tissue, Reduced intraa... ORPHA:363400
Nemaline Myopathy 4
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Waddling gait, Difficulty walking... OMIM:609285
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Myopathy, EMG: myopathic abnormalities, Decreased nerve conduction velocity, Arthritis, Tremor, I... ORPHA:397744
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Pelvic girdle muscle weakness, Frequent falls, Achilles tendon contracture, Scapular winging, Sho... OMIM:603689
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Glutathionuria
Tremor OMIM:231950
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Skeletal muscle atrophy, Dysmetria, Myoclonus, Increased intramyocellular lipid droplet... OMIM:614487
Myoclonus-Dystonia Syndrome
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus ORPHA:36899
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture OMIM:616313
Nemaline Myopathy 1
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... OMIM:609284
Marinesco-Sjogren Syndrome
Myopathy, Coxa valga, Skeletal muscle atrophy, Short metatarsal, Cubitus valgus, Rimmed vacuoles,... OMIM:248800
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Impaired distal tactile sensation, Hammertoe, Decreased distal sensory nerve ac... OMIM:618400
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint c... ORPHA:98911
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Osteoporosis, Limitation of joint mobility, Camptodactyly of finger, Mul... ORPHA:3294
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Areflexia of upper limbs, Impaired temperature sensation, Triceps weakness, Impaired pain sensati... OMIM:619574
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Optic atrophy, Head titubation, Dysmetria, Fasciculations, Intention tremor, Ataxi... OMIM:615491
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Generalized limb muscle atrophy, Paresthesia, Talipes equinovarus, Frequent falls,... ORPHA:466794
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Paresthesia... ORPHA:101081
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Clonus, Lower limb amyotrophy, Spastic gait, Lower limb s... ORPHA:100999
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... OMIM:162400
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Adducted thumb, Frequent falls, Torticollis, Generalized amyotr... ORPHA:75840
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Talipes equinovarus, Proximal lower limb amyotr... OMIM:600175
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... OMIM:601954
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Spondylocamptodactyly
Camptodactyly of finger, Camptodactyly OMIM:600000
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait, Elbow f... OMIM:619470
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Spinal muscular atrophy, Skeletal muscle atrophy, Flexion contracture OMIM:616081
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Gait disturbance, Skeletal muscle atrophy, Pseudobulbar paralysis, Tremor, Tetrapl... OMIM:616586
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Inability to walk, Myopathy OMIM:616321
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Fasciculations OMIM:614808
Intellectual Developmental Disorder, Autosomal Dominant 56
Ataxia, Attention deficit hyperactivity disorder, Spasticity, Paraparesis OMIM:617854
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Limb muscle weakness, Vocal c... OMIM:614895
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly OMIM:264010
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Paresthesia, Camptodactyly of finger, Weakness of long finger extensor muscles, Gait disturbance,... ORPHA:324442
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased amplitude of sensory action potentials OMIM:608673
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Dystonia, Myoclonus, Increased intramyocellular lipid droplets, Ataxia, Spastic di... OMIM:619065
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Limb muscle weakness, Distal... OMIM:118210
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Rocker bottom foot, Arthrogryposis multiplex congenita, Flexion contract... OMIM:618393
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal tactile sensation, Hammertoe, Steppage... OMIM:610100
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnormal cranial nerve mor... OMIM:605253
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Babinski sign, Gait disturbance, Limb fasciculations, Spastic gait, Increased spinal bone density... ORPHA:329475
Charcot-Marie-Tooth Disease Type 2B1
Proximal amyotrophy, Toe extensor amyotrophy, Peroneal muscle atrophy, Proximal muscle weakness i... ORPHA:98856
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Limited elbow flexion, Somatic sensory dysfunction, Ga... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Upper limb muscle weakness, Distal sensory impairment, Distal amyotrophy OMIM:607677
Oculopharyngodistal Myopathy 3
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... OMIM:619473
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Myopathy, Optic atrophy, Hypertonia, Lethargy ORPHA:26792
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Skeletal muscle atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdia... OMIM:615157
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements OMIM:618497
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Babinski sign, Optic atrophy, Dysmetria, Achilles tendon contracture, Decreased nerve conduction ... OMIM:612674
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Camptodactyly OMIM:217990
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Myopathy, Proximal, With Ophthalmoplegia
Myopathy, Waddling gait, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture OMIM:605637
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment, Distal amyotrophy OMIM:607731
Autosomal Recessive Spastic Paraplegia Type 48
Spastic gait, Myoclonus, Lower limb spasticity, Ataxia, Broad-based gait, Parkinsonism, Lower lim... ORPHA:306511
X-Linked Immunoneurologic Disorder
Hypertonia, Myopathy, Hemiplegia/hemiparesis ORPHA:2571
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Vocal cord pare... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Babinski sign, Fiber type grouping, Distal lower limb amyotrophy, Impair... OMIM:500013
Posterior Column Ataxia With Retinitis Pigmentosa
Impaired proprioception, Optic atrophy, Skeletal muscle atrophy, Decreased sensory nerve conducti... OMIM:609033
Combined Saposin Deficiency
Babinski sign, Optic atrophy, Myoclonus, Fasciculations, Hyperkinetic movements OMIM:611721
Mitochondrial Complex I Deficiency, Nuclear Type 17
Dystonia, Gait disturbance, Skeletal muscle atrophy, Rigidity, Ataxia OMIM:618239
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gait disturbance, Myopathy, Multiple joint contractures, Limb-girdle muscle weakness, Difficulty ... ORPHA:352470
Autosomal Recessive Spastic Paraplegia Type 18
Babinski sign, Ankle flexion contracture, Hip contracture, Flexion contracture of toe, Macrogloss... ORPHA:209951
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Rocker bottom foot, Knee fle... ORPHA:1143
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... OMIM:608358
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Central core regions in muscle fibers, Dystonia, Optic atrophy, Progressiv... ORPHA:401768
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Abnormal mitochondria in muscle tissue, Dysmetria, Myoclonus, Spastic dysarthria, Oculo... ORPHA:313772
Spinal Muscular Atrophy, Type I
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Tongue fas... OMIM:253300
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis OMIM:616726
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... OMIM:310300
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Hammertoe, Limb muscle weakness, Steppage gait, Split ... OMIM:118300
Pulmonary Blastoma
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough ORPHA:64741
Autosomal Recessive Spastic Paraplegia Type 66
Limb hypertonia, Talipes equinovarus, Spastic gait, Lower limb spasticity, Impaired vibration sen... ORPHA:401815
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... ORPHA:43
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Spinocerebellar Ataxia Type 1
Postural tremor, Impaired proprioception, Gait disturbance, Dystonia, Skeletal muscle atrophy, Ga... ORPHA:98755
Hereditary Geniospasm
Abnormality of mentalis muscle, Chin myoclonus ORPHA:53372
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Hypomimic f... OMIM:300423
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Impaired temperature sensation, Clubbing, Impaired t... ORPHA:2199
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Neuropathy, Congenital, With Arthrogryposis Multiplex
Babinski sign, Arthrogryposis multiplex congenita, Spasticity, Distal amyotrophy, Broad-based gai... OMIM:162370
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... ORPHA:86812
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Myopathy, Skeletal muscle atrophy, Limitation of joint mobility, Flexion contra... ORPHA:157973
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Enhancement of the C-reflex OMIM:615127
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex, Tremor, Difficulty... OMIM:613608
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Contractures of the joints of the upper limbs, Clonus, Opisthotonus, Amyo... ORPHA:300605
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Babinski sign, Dystonia, Decreased motor nerve conduction velocity, Head ... OMIM:608804
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Optic atrophy, Rigidity, Frequent falls, Chorea, Orom... ORPHA:216873
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Upper limb amyotrophy, Gait imbalance, Talipes equinov... ORPHA:99953
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Frequent falls, Macroglossia, Achilles tendon contracture,... OMIM:606612
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy OMIM:182815
Spastic Paraplegia 16, X-Linked
Babinski sign, Facial hypotonia, Lower limb spasticity, Shuffling gait, Tetraplegia, Short distal... OMIM:300266
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Dystonia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass o... OMIM:610978
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of ability to w... ORPHA:34516
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Paraparesis, Attention deficit hyperactivity disorder, Sl... OMIM:300100
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Frequent falls, Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapula... ORPHA:353
Autosomal Dominant Spastic Paraplegia Type 38
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... ORPHA:171617
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Ach... ORPHA:254361
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:98863
Perching Syndrome
Flexion contracture, Camptodactyly OMIM:617055
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Gait disturbance, Steppage gait, EMG: myopathic abnormalities, Decreased nerve conduction velocit... ORPHA:99939
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Distal Myopathy, Tateyama Type
Clumsiness, Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnorm... ORPHA:488650
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Pseudobulbar paralysis, Amyotrophic lateral sclerosis, Fasciculations, S... OMIM:105400
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:98853
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy, Avascular necrosis, Delayed skeletal maturation ORPHA:2380
Primary Angiitis Of The Central Nervous System
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism, Pseudopapilledema ORPHA:140989
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, Spasticity, Oculogyric cr... OMIM:614254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Babinski sign, Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial pal... OMIM:608840
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Leber Optic Atrophy
Postural tremor, Dystonia, Myopathy, Optic atrophy, Optic neuropathy, Ataxia OMIM:535000
Spinocerebellar Ataxia 12
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... OMIM:604326
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Exaggerated start... ORPHA:320406
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Skeletal muscle atrophy, Talipes equinovarus, Macroglossia, Muscular dystrophy... OMIM:616827
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials OMIM:608105
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Prolonged brainstem auditory evoked potentials, Fr... ORPHA:206443
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Lethal Congenital Contracture Syndrome 7
Paralysis, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita, Knee fle... OMIM:616286
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Dystonia, Myopathy, Spastic tetraplegia, Flexion contracture OMIM:618237
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Distal amyotrophy, Gait... OMIM:606183
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Myoclonus, Knee flexion contracture, Elbow flexion contracture OMIM:619303
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Generalized limb muscle atrophy, Optic atrophy... ORPHA:137898
Myopathy, Congenital Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Minicore myopathy, Z-band streaming, Tongue fasciculations, Cen... OMIM:618823
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking, Facial myokymia ORPHA:324588
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia OMIM:615768
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Hand clenching, Limb apraxia, Br... ORPHA:240103
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy, Waddling gait OMIM:602541
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis OMIM:300455
Bethlem Myopathy
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... ORPHA:610
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Joint contracture of the hand, Fasciculations, Proximal muscle weakness in upper limbs, Distal up... ORPHA:466768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... OMIM:611307
Poliomyelitis
Paralysis, Stiff neck, Skeletal muscle atrophy, Abnormal skeletal muscle morphology, Paresthesia,... ORPHA:2912
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Distal amyotrophy, Dysmetria, Myoclonus, Bradykinesia, Fasciculations,... OMIM:183090
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles ORPHA:270
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... OMIM:618598
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Restricted neck movement due ... OMIM:255600
Myopathy, Scapulohumeroperoneal
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... OMIM:616852
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign OMIM:125370
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly OMIM:614257
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... OMIM:300894
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Atelectasis, Interlobular septal thickening,... ORPHA:2302
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Flexion contracture, Lethargy OMIM:201470
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ragged-red muscle fibers, Impaired distal proprioception, Rigidity, Steppage gait,... OMIM:258450
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Optic atrophy, Tapered finger, Dysmetria, Steppage gait, Myoclonus, Intention trem... OMIM:616505
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy OMIM:233910
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Knee clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Impaire... OMIM:604360
Isaac Syndrome
Distal sensory impairment, Calf muscle hypertrophy, Fasciculations ORPHA:84142
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Chorea, Hyperkinetic movements, Limb-girdle muscular dystrophy, Truncal ataxia, Difficu... ORPHA:369847
Dystonia 28, Childhood-Onset
Gait disturbance, Dystonia, Torticollis, Oromandibular dystonia, Myoclonus, Retrocollis, Laryngea... OMIM:617284
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... ORPHA:98762
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, T... ORPHA:238329
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... ORPHA:98855
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy