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, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Joint laxity, Congenital hip dislocation, Ataxia, Limb-girdle muscle weakness, Dis... ORPHA:98914
Myasthenic Syndrome, Congenital, 8
Weakness of facial musculature 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, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Inability t... ORPHA:482601
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... ORPHA:320370
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, ... OMIM:616282
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spastic paraplegia, Babinski sign, Optic atrophy, Distal sensory impai... OMIM:615043
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Spastic Paraplegia 38, Autosomal Dominant
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Impaire... OMIM:612335
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Knee flexion contracture, Tip-toe gait, D... ORPHA:401785
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal... ORPHA:357043
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... ORPHA:276435
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... ORPHA:603
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Babinski sign, Tip-toe gait, Difficulty w... OMIM:615681
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... OMIM:182980
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Distal lower limb amyotrophy, Hand muscle weakness, Impaired pain sensation, Impaired distal vibr... OMIM:300905
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Clonus, Spastic paraplegia, Scissor gait, Babinski sign, Hypertonia, Gai... OMIM:615686
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I... OMIM:619216
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Hammertoe, Impaired vib... OMIM:182960
Spastic Paraplegia 77, Autosomal Recessive
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... OMIM:617046
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Babi... OMIM:615658
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we... OMIM:302802
Arthrogryposis, Distal, Type 10
Camptodactyly of finger, Elbow flexion contracture, Plantar flexion contracture, Hamstring contra... OMIM:187370
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased compound muscle action potential a... OMIM:619112
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy,... OMIM:617018
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Distal sensory... OMIM:610250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait OMIM:612539
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Incoordination, Hand mus... OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... ORPHA:99014
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Amyotrophy of ankle musculature, Impaired vibration sensation in the l... ORPHA:399081
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Upp... OMIM:606595
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Inability to walk, Babinski sign, Spastic paraple... OMIM:611225
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Fiber type grouping, Distal amyotrophy, Distal sensory impairment OMIM:614369
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Claw hand deformity, Impaired pain sensation, Impaired distal vibration sensat... OMIM:618511
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:101077
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... OMIM:500002
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, F... OMIM:615575
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Lower limb pain, Babinski sign, Abnormal pyramidal sig... OMIM:600361
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... ORPHA:309169
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... ORPHA:2589
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... ORPHA:100985
Episodic Ataxia, Type 1
Incoordination, Abnormality of the hand, Tremor, Babinski sign, Slurred speech, Episodic ataxia, ... OMIM:160120
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Hand muscle weakness, Distal sensory impairment, Distal amyotrophy, Steppage... OMIM:616280
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic... OMIM:615025
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Impaired temperature sensation, Impaired pain sensation, Upper limb... ORPHA:99940
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... OMIM:607641
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... ORPHA:488594
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Impaired dista... OMIM:270685
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity OMIM:545000
Roussy-Lévy Syndrome
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Decreased mot... ORPHA:3115
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal sensory impairment, Distal amyotrophy, Steppage gait, Gait disturbance, Hammertoe OMIM:616625
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Distal lower limb amyotrophy, Inability to walk, Achilles tendon co... ORPHA:2596
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... OMIM:167320
Autosomal Recessive Spastic Paraplegia Type 45
Lower limb spasticity, Ankle flexion contracture, Spastic paraplegia, Babinski sign, Optic atroph... ORPHA:320396
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... OMIM:617030
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Spasticity, Hypertonia, Scissor gait ORPHA:401805
Merrf
Ataxia, Ragged-red muscle fibers, Optic atrophy, Myopathy, Multiple lipomas ORPHA:551
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Joint stiffness, Rigidity, Chorea, Choreoathetosis, Hyperkine... ORPHA:98810
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber... OMIM:616924
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
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... OMIM:607317
Nemaline Myopathy 6
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies OMIM:609273
Nonaka Myopathy
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... OMIM:605820
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Tremor, Proximal amyotrop... OMIM:605355
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Spastic paraplegia, Babinski... OMIM:613162
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Generalized amyotrophy, Difficulty walking, Sp... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... OMIM:616668
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... OMIM:607684
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, G... OMIM:615157
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Limitation of movem... ORPHA:100988
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... OMIM:620323
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Tibialis anterior muscle atrophy, Impaired distal vibration sensation, Low... OMIM:615035
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... OMIM:606693
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Dysequilibrium Syndrome
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance ORPHA:1766
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness OMIM:618036
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... OMIM:607458
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... OMIM:614335
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Babinski sign, Optic atro... OMIM:609260
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Unsteady gait, Spinal muscular atrophy, Distal sensory impairment OMIM:300489
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... OMIM:618279
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... OMIM:618285
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Optic atrophy, Ataxia ORPHA:104
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Spastic paraplegia, Gait disturbance, Talipes equinovarus, Spasticity OMIM:615683
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Distal sensory i... ORPHA:399086
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Babinski sign, Spastic parap... OMIM:312920
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of the upp... ORPHA:65684
Spastic Paraplegia 20, Autosomal Recessive
Flexion contracture, Dysmetria, Lower limb muscle weakness, Distal amyotrophy, Upper limb spastic... OMIM:275900
Spinocerebellar Ataxia Type 43
Unsteady gait, Limb ataxia, Distal sensory impairment, Gait ataxia, Progressive cerebellar ataxia... ORPHA:497764
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... ORPHA:251282
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Gemignani Syndrome
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation ORPHA:2074
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis OMIM:309560
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... OMIM:300695
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy... ORPHA:431329
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... OMIM:608358
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy, Distal amyotrophy OMIM:618135
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Broad-based gait, Scapular winging, Lower limb spasticity, Spinal... OMIM:615290
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... OMIM:118300
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fas... OMIM:183050
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... OMIM:607483
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... ORPHA:435387
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Foot osteomyelitis, Somatic sensory dysfunction, Decreased motor ne... OMIM:600882
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Steppage ga... OMIM:618387
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Pyknoachondrogenesis
Stillbirth OMIM:265880
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... ORPHA:352675
Myopathy, Distal, 3
Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abno... OMIM:610099
X-Linked Charcot-Marie-Tooth Disease Type 2
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Clasp-knife sign, Tibial... ORPHA:101076
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Difficulty walking, Spasticity OMIM:618242
Nemaline Myopathy 7
Waddling gait, Frequent falls, Fatty replacement of skeletal muscle, Knee flexion contracture, Sh... OMIM:610687
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... ORPHA:171442
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:607678
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... ORPHA:99947
Partington Syndrome
Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly OMIM:309510
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Myopathy, Myofibrillar, 5
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... OMIM:607706
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Zebra Body Myopathy
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... ORPHA:97240
Spinal Muscular Atrophy, X-Linked 2
Inguinal hernia, Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Decreased co... OMIM:301830
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Foot dorsiflex... OMIM:137200
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velo... ORPHA:101078
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Dys... OMIM:610357
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... OMIM:607088
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr... ORPHA:254886
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... OMIM:616907
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Myopathy, Proximal mus... OMIM:615424
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... OMIM:248900
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonus, Talipes equin... OMIM:618011
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle ... ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... OMIM:614436
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Dystonia, Ataxia, Inability to walk, Tongue fasciculations, Type 1 muscl... OMIM:618276
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... OMIM:613287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... OMIM:254110
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... ORPHA:171439
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Spastic Paraplegia 85, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Impaired temperature sensation,... OMIM:619686
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Fasciculations, Proximal amyotrophy OMIM:271200
Rigid Spine Syndrome
Waddling gait, Skeletal muscle atrophy, Hip contracture, Elbow flexion contracture, Hamstring con... ORPHA:97244
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... ORPHA:424107
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ... ORPHA:254343
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... OMIM:270800
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Optic atrophy, Distal amyotrophy, Difficulty walking, Distal lower limb muscle wea... ORPHA:468661
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude, Flexion contracture, Myopathy, Generalized ... OMIM:618323
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... OMIM:617854
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... OMIM:613672
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis ORPHA:2815
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Bethlem Myopathy 2
Scapular winging, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, Atrophic s... OMIM:616471
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Paralysis, Distal sensory impairment, Lower-limb joint contracture, Tali... OMIM:613710
Myopathy, Distal, With Anterior Tibial Onset
Loss of ambulation, Myopathy OMIM:606768
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Rigidity, Babi... ORPHA:100984
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Myopathy, Proximal muscle weakness in lower limbs, Gait disturbance, Increased var... ORPHA:1878
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... ORPHA:329478
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations, Proximal amyotrophy OMIM:608030
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... OMIM:302801
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... ORPHA:101085
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait dist... OMIM:615643
Epilepsy, Progressive Myoclonic, 9
Short thumb, Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls OMIM:616540
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... ORPHA:99950
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dys... ORPHA:521406
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski sign, Upper limb amyotro... ORPHA:496689
Autosomal Recessive Spastic Paraplegia Type 25
Lower limb pain, Paraparesis, Spastic paraplegia, Upper limb pain, Abnormality of peripheral nerv... ORPHA:101005
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Masa Syndrome
Camptodactyly of finger, Hemiplegia/hemiparesis, Spastic paraplegia, Hand clenching, Gait disturb... ORPHA:2466
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, L... ORPHA:266
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... OMIM:300911
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Joint laxity, Scapular winging, Facial palsy, Generalized weakness of limb muscles... ORPHA:353327
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Waddling gait, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu varum, Abnormality... ORPHA:166002
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Unsteady gait, Flexion ... OMIM:608099
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Joint stiffness, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf mus... ORPHA:209335
Hereditary Geniospasm
Abnormality of mentalis muscle, Chin myoclonus, Intention tremor ORPHA:53372
Wahab Syndrome
Short palm, Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Camptodactyly, Clin... OMIM:615170
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Distal amyotrophy, Myoclonus, In... OMIM:614487
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Congenital Myopathy 15
Waddling gait, Osteopenia, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased ... OMIM:620161
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... OMIM:608627
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... OMIM:612937
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Distal amyotrophy, Spasticit... OMIM:617207
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... OMIM:180800
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... OMIM:616287
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia OMIM:619099
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Progressive spastic paraparesis, Babinski si... ORPHA:444099
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Dystonia OMIM:618237
Epilepsy, Progressive Myoclonic, 11
Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor OMIM:618876
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Babinski sign, Lower limb amyotrophy, Split hand, Distal sensory impairmen... OMIM:617882
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Coxa valga, Rigidity, Abnormal metacarpal morphology, Avascular ... ORPHA:559
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Clonus, Impaired pain sensation, S... ORPHA:139578
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment,... OMIM:616719
Congenital Myopathy 16
Scapular winging, Postural tremor, Flexion contracture, Tongue tremor, EMG: myopathic abnormalities OMIM:618524
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly OMIM:607539
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Joint stiffness, Proxi... ORPHA:598
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy... OMIM:619065
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elb... ORPHA:75840
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... OMIM:608323
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... ORPHA:225154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Spastic Ataxia 9, Autosomal Recessive
Ataxia, Delayed skeletal maturation, Hoffmann sign, Impaired distal vibration sensation, Abnormal... OMIM:618438
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Waddling gait, Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal a... OMIM:611067
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysar... ORPHA:1175
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... ORPHA:306692
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased... OMIM:125250
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... OMIM:310300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Flexion contrac... ORPHA:2590
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... OMIM:300816
Autosomal Spastic Paraplegia Type 18
Hip contracture, Ankle flexion contracture, Inability to walk, Neck joint contracture, Flexion co... ORPHA:209951
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... OMIM:609284
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Optic atrophy, Slurred speech, Gait ataxia, Flexion contracture of toe OMIM:619323
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly OMIM:610140
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Fasciculations, Difficulty walking OMIM:610717
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... OMIM:619028
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Vocal cord ... OMIM:614895
Distal Myotilinopathy
Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... ORPHA:98911
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, D... OMIM:607596
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly OMIM:618453
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
Spastic Paraplegia 75, Autosomal Recessive
Distal lower limb amyotrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Babin... OMIM:616680
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skeletal muscle fibers, Co... OMIM:248800
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par... ORPHA:397744
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... OMIM:616081
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, ... ORPHA:313772
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Fl... OMIM:615491
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... ORPHA:90117
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Optic atrophy, Upper limb amyotrophy, Distal sensory impairment, Talipes equin... OMIM:617087
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, D... OMIM:609285
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Proximal amyotrophy, Distal sensory impairment, Tetraplegia, Degeneration of anterio... OMIM:604484
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Poor motor coordination, Reduced intraabdominal adip... ORPHA:363400
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... OMIM:613608
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Distal amyotrophy, Hammertoe, Gait disturbance, ... OMIM:618400
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... OMIM:605637
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Writer's cramp, Peroneal muscle atrophy, Flexion contracture, Impaired vibra... ORPHA:324442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Lower limb muscle weakness, Clonus, Babinski sign, Impaired vibration sens... ORPHA:171863
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper moto... OMIM:500001
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face OMIM:128235
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ... ORPHA:401815
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired pain sensation, Impaired temperature sensation, Centrally nucleated skeletal muscle fibe... OMIM:619574
Combined Saposin Deficiency
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
X-Linked Immunoneurologic Disorder
Myopathy, Hypertonia, Hemiplegia/hemiparesis ORPHA:2571
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensory ataxia, Distal sensor... ORPHA:101081
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Gait disturbance, Difficulty ... ORPHA:352470
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:605253
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ataxia OMIM:613402
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased... ORPHA:86812
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Diaphragmatic paralysis, Craniofacial dystonia, Plantar flexion contract... OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased amplitude of sensory action potentials OMIM:608673
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal amyotrophy... OMIM:610100
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Areflexia of upper limbs, Decreased nerve conduction velocity, Decr... ORPHA:90103
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand trem... ORPHA:276198
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign,... OMIM:500013
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Distal sensory... OMIM:612954
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Distal amyotr... OMIM:118210
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul... ORPHA:3294
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Spasticity, Gait ata... ORPHA:466794
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Camptodactyly OMIM:217990
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Increased connective tissue, Calf muscle hypertrophy, Sh... OMIM:611307
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle w... OMIM:619903
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty ... ORPHA:330050
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Hypertonia, Optic atrophy, Dystonia ORPHA:26792
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Broad-based gait, Flexion contracture of finger, Ataxia, Decreased senso... OMIM:609033
Familial Dyskinesia And Facial Myokymia
Resting tremor, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia, Limb hypertonia ORPHA:324588
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... ORPHA:216873
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... OMIM:618823
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Lower limb muscle weakn... ORPHA:306511
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Limitation of joint mobility, Myopathy, Joint hyper... ORPHA:157973
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Quadriceps muscle weakness, Elbow flexion contracture, Calf muscle hypertrophy... ORPHA:206546
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Diaphragmatic pa... OMIM:614399
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Central Core Disease
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Myopathy, Talipes equinova... ORPHA:597
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... ORPHA:100999
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Leber Optic Atrophy
Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Myopathy, Dystonia OMIM:535000
Spinocerebellar Ataxia, Autosomal Recessive 32
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... OMIM:619862
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... OMIM:619790
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Brady... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures, Babinski sign, Spastic paraplegia, Bone pain,... ORPHA:329475
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Optic atrophy, Dysmetr... OMIM:210000
Baker-Gordon Syndrome
Joint laxity, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic mov... OMIM:618218
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Hypomimic face, Bradykinesi... OMIM:615528
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... ORPHA:98863
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Stepp... ORPHA:206594
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Broad-based gait, Scapular winging, Calf muscle pseudohypertrophy, Frequent falls,... ORPHA:353
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral talipes equinova... OMIM:617194
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Decreased nerve conduction velocity, Inability to walk, Upper limb m... ORPHA:99939
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles te... OMIM:620389
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... ORPHA:261
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Ataxia, Babins... OMIM:609195
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... ORPHA:98853
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... OMIM:253600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Distal sensory impairment OMIM:607677
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Achilles tendon contr... OMIM:606612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Loss of ambulation, Inc... OMIM:253601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, Skeletal mus... OMIM:608840
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmet... ORPHA:98755
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Foot osteomyelitis, Osteomyel... OMIM:162400
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment OMIM:607731
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Optic disc pallor, Exaggerated startle response, Multiple joint con... ORPHA:320406
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Babinski sign, Calcaneovalgus deformity, Distal amyotrophy, Arthrogryposis mult... OMIM:162370
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Elbow flexion contracture OMIM:619470
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Impaired temperature sensation, Diffuse palmoplantar... ORPHA:2199
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... ORPHA:98856
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy, Dystonia OMIM:203740
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Involuntary movements, Increased connective tissue, Tongue fasciculation... ORPHA:238329
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ataxia, Action myoclonus OMIM:616230
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Elbow flexion contracture, Myoclonus, Knee flexion contracture OMIM:619303
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Hand tremor, Myoc... OMIM:608105
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... ORPHA:137898
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy... OMIM:608340
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, ... OMIM:606703
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... ORPHA:254361
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abnormal pyramidal sign,... ORPHA:309162
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Thenar muscle atrophy, Impaired distal vi... OMIM:604360
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Low... OMIM:300100
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseu... OMIM:105400
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased distal sensory... ORPHA:99953
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment OMIM:607734
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystrophy, Difficulty walking, Tru... ORPHA:369847
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy, Delayed skeletal maturation, Avascular necrosis ORPHA:2380
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... ORPHA:98855
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Joint laxity, Ankle flexion contracture, Centrally nuclea... OMIM:617760
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... ORPHA:59135
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Brachydactyly OMIM:614257
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Flexion contra... OMIM:609541
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy, Spastic paraplegia OMIM:182815
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Optic atrophy, Dysmetria, Dis... OMIM:616505
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... OMIM:620285
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Limb joint contracture, Involuntary movements, Rigidity, Chorea, Babin... OMIM:617282
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Poliomyelitis