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Gene: Agrn MGI:87961

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Agrn (3 diseases)
Human diseases predicted to be associated with Agrn (1776 diseases)

The table below shows human diseases associated to Agrn by orthology or direct annotation.

Disease	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	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	Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Paralysis, Abnormal motor ner...	ORPHA:2912
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk...	ORPHA:682
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Lethal Congenital Contracture Syndrome 7	Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis	OMIM:616286
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Babinski sign, Optic atrophy, Le...	OMIM:252011
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea...	ORPHA:401768
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Increased connective tissue, Macroglossia, Calf muscle hypertrophy, Musc...	OMIM:616827
Spastic Paraplegia 16, X-Linked	Lower limb spasticity, Facial hypotonia, Lower limb muscle weakness, Babinski sign, Spastic parap...	OMIM:300266
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy, Delayed skeletal maturation	ORPHA:50817
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis	ORPHA:27
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ...	ORPHA:206443
Allan-Herndon-Dudley Syndrome	Hallux valgus, Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, Spastic tet...	OMIM:300523
Spinocerebellar Ataxia 13	Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, Limb ataxia, Gait at...	OMIM:605259
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Babinski sign, Optic at...	OMIM:612674
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab...	OMIM:183090
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Facial palsy, Frequent falls, Rigidity, Limb muscle weakness, Hypertonia, Type 1 m...	OMIM:161800
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Ataxia, Clonus, Dysesthesia, Rigidity, Unsteady gait, Babinski sign, Limb ...	OMIM:614877
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic para...	OMIM:616586
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy	ORPHA:1216
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Scapuloperoneal Spinal Muscular Atrophy	Broad-based gait, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Torticolli...	OMIM:181405
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Babin...	ORPHA:320375
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Accelerated skeletal maturation, Tremor, Limb dystonia, Bilateral coxa valga	OMIM:620270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Mitochondrial Complex I Deficiency, Nuclear Type 17	Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Gait disturbance, Dystonia	OMIM:618239
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy	OMIM:255600
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Sensory at...	OMIM:618184
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Tongue fasciculations, Proximal...	OMIM:253300
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Spasticity, Knee flexion co...	ORPHA:3208
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Coenzyme Q10 Deficiency, Primary, 4	Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De...	OMIM:612016
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Opt...	ORPHA:1215
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Isaacs Syndrome	Calf muscle hypertrophy, Fasciculations, Distal sensory impairment	ORPHA:84142
Hyperphenylalaninemia, Bh4-Deficient, B	Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Diaphragmatic paralysis	ORPHA:868
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat...	OMIM:608804
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa...	ORPHA:391417
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations	OMIM:619141
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro...	ORPHA:272
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Single transverse palmar crease,...	OMIM:611890
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function...	ORPHA:352596
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Spasticity, Amyotrophic lateral sclerosis, Tetraparesis	OMIM:617892
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Brachydactyly, Adducted thumb, Camptodactyly	ORPHA:444051
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Decreased hip abduction, Single transverse palmar cr...	OMIM:108120
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Rocker bottom foot, Camptodactyly	OMIM:618393
Autosomal Recessive Spastic Paraplegia Type 26	Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait distu...	ORPHA:101006
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Glutamate-Cysteine Ligase Deficiency	Myopathy, Ataxia	ORPHA:33574
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Myopathy, Atrophic scars, Hernia, Joint hypermobility	ORPHA:300179
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber...	OMIM:617519
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Thenar muscle atrophy, Distal sensory impairment, Distal amyotrophy, Steppage gait, Hammertoe, Di...	OMIM:606483
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Ataxia, Ankle flexion contracture, Tremor, Small hand, Upper limb undergrowth, Optic ...	OMIM:608799
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unsteady gait, Limb tremor,...	ORPHA:420492
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Delayed skeletal maturation, Ragged-red ...	ORPHA:480
Dystonia 15, Myoclonic	Dystonia, Writer's cramp, Myoclonus	OMIM:607488
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Myoclonus, Dysmetria	OMIM:618251
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Abnormal pyramidal sign, Abnormal femur morphology, Abnorm...	ORPHA:909
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Periodic paralysis	OMIM:613345
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand trem...	ORPHA:100996
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi...	OMIM:617468
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex	OMIM:601068
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra...	ORPHA:13
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Joint hyperflexibility	ORPHA:1188
Moebius Syndrome	Syndactyly, Brachydactyly, Clinodactyly, Poor coordination, Split hand, Clumsiness, Congenital fi...	OMIM:157900
Hypophosphatasia, Childhood	Waddling gait, Myopathy, Craniosynostosis, Bowing of the legs	OMIM:241510
Multifocal Motor Neuropathy	Limited wrist extension, Weakness of long finger extensor muscles, Motor conduction block, Fascic...	ORPHA:641
Martsolf Syndrome 2	Spastic diplegia, Overlapping toe, Camptodactyly of finger, Camptodactyly	OMIM:619420
Brody Disease	Skeletal muscle hypertrophy, Somatic sensory dysfunction, Flexion contracture, Fasciculations	OMIM:601003
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hiatus hernia, Delayed skele...	OMIM:601162
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus	OMIM:208700
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal si...	ORPHA:98
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi...	ORPHA:506353
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Short palm, Broad-based gait, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dys...	OMIM:610185
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb spasticity, Somatic sensory dysfunction, Abnormal pyramidal sign, Optic atrophy, Progr...	ORPHA:1177
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Unsteady gait, Slurred speech...	ORPHA:93952
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance, Umbilical hernia	ORPHA:2349
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Broad-based gait, Decreased sensory nerve conduction v...	OMIM:145900
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty w...	ORPHA:369840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlapping finge...	OMIM:618436
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Swan neck-like deformities of the fingers, Decreased ...	OMIM:270550
Spinocerebellar Ataxia Type 18	Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tr...	ORPHA:98771
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Slurred speech, Limb ataxia, Dysmetria, Leg muscle stiffness, Progressive cerebellar ataxia, Prog...	ORPHA:284289
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Tremor, Myoclonus, Abnormal aut...	ORPHA:97229
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy	OMIM:255100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy	ORPHA:366
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Ataxia, Impaired distal ...	OMIM:607250
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor	OMIM:620158
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Myopathy, Shoulder girdle muscle weakness, Falls, Gait disturbance, Generalized amyotrophy, Pelvi...	OMIM:615156
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Unsteady gait, Ragged-red muscle fiber...	OMIM:616479
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial d...	ORPHA:171433
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Weakness of facial musculature, Ataxia	OMIM:618637
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Ceroid Lipofuscinosis, Neuronal, 1	Ataxia, Flexion contracture, Optic atrophy, Myoclonus, Spasticity	OMIM:256730
Spinocerebellar Ataxia 17	Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ...	OMIM:607136
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616437
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr...	ORPHA:240094
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation	OMIM:256731
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti...	OMIM:164400
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Syndactyly, Decreased nerve conduction velocity, Distal sensory impairme...	OMIM:615284
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment	ORPHA:639
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Optic atrophy, Hemiparesis...	ORPHA:98673
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Impai...	ORPHA:88628
Hypermanganesemia With Dystonia 2	Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Tremor, Inability to walk, ...	OMIM:617013
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Overlapping toe, Spastic tetraparesi...	OMIM:618598
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo...	ORPHA:139485
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Distal lower limb amyotrophy, Babinski sign, Spastic paraplegia, Ab...	ORPHA:459056
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Abnormal toe morphology...	ORPHA:459033
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram...	OMIM:617225
Perching Syndrome	Joint contracture, Camptodactyly	OMIM:617055
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Developmental And Epileptic Encephalopathy 16	Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia	OMIM:615338
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Difficulty walking, Dystonia	OMIM:616684
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous...	ORPHA:329284
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Ataxia, Parkinsonism, Inability to walk, Paraparesis, Generalized limb m...	ORPHA:2822
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreo...	OMIM:619653
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Inability to walk, Small hand, Tremor	OMIM:616269
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Hypertonia, An...	OMIM:154276
Caribbean Parkinsonism	Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ...	ORPHA:97355
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Boucher-Neuhauser Syndrome	Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten...	OMIM:215470
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper l...	ORPHA:99965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Machado-Joseph Disease	Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi...	OMIM:109150
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Campto...	OMIM:609128
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac...	ORPHA:521411
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Myopathy, Calf muscle hypertrophy, Difficulty walking, Pelvic gi...	ORPHA:119
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy...	OMIM:604391
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations	OMIM:313200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasti...	OMIM:614254
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve...	ORPHA:52430
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Optic atrophy, Talipes ...	OMIM:617481
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor...	OMIM:254130
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Clonus, Distal amyotrophy, Falls, Tongue fasciculations, Weakness of facial ...	OMIM:618811
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Spinocerebellar Ataxia 36	Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto...	OMIM:614153
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Alexander Disease Type Ii	Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Abnormal autonomic nervous system ph...	ORPHA:363722
Fried Syndrome	Skeletal muscle atrophy, Gait disturbance, Spastic diplegia	ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Inguinal hernia, Dermatoglyphic ridges abnormal, Small thenar eminence...	OMIM:211960
Childhood-Onset Spasticity With Hyperglycinemia	Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi...	ORPHA:401866
Spastic Paraplegia 39, Autosomal Recessive	Ataxia, Babinski sign, Distal amyotrophy, Gait disturbance, Distal lower limb muscle weakness, Pr...	OMIM:612020
Autosomal Recessive Spastic Paraplegia Type 78	Skeletal muscle atrophy, Dystonia, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar...	ORPHA:513436
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Multiple joint contractures, Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ...	ORPHA:504476
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy, Dystonia	OMIM:618244
Myoclonus, Intractable, Neonatal	Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter	OMIM:617235
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:162350
Myasthenic Syndrome, Congenital, 24, Presynaptic	Knee flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, Oculomotor a...	OMIM:618198
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Broad-based gait, Arachnodactyly, Sandal gap, Inability to walk, Flexion contracture, Sensory ata...	OMIM:617146
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618497
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Dystonia	OMIM:614932
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams...	OMIM:613205
Spinocerebellar Ataxia, Autosomal Recessive 20	Ataxia, Inability to walk, Clinodactyly, Babinski sign, Macroglossia, Talipes equinovarus, Apraxi...	OMIM:616354
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Myopathy	OMIM:230450
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Facial hypotonia, Parkinsonism, Tremor, Flexion contracture, Ba...	OMIM:300055
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat...	OMIM:117000
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Lower limb spasticity, Dupuytren contracture, Parkinsonism, Spastic...	ORPHA:100991
Muscle-Eye-Brain Disease	Hemiplegia/hemiparesis, Optic atrophy, Myopathy, Hypertonia, Gait disturbance	ORPHA:588
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Lower limb muscle weakness, Truncal titubation, Babins...	OMIM:610532
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Facial palsy, Split hand, Optic atrophy, Clumsiness, Generalized amyotrophy, Tongue fasci...	OMIM:614707
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita, Craniosynostosis	OMIM:201550
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m...	ORPHA:399096
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Wieacker-Wolff Syndrome	Dystonia, Facial palsy, Proximal placement of thumb, Hip dislocation, Congenital foot contracture...	OMIM:314580
Schindler Disease, Type I	Osteopenia, Optic atrophy, Generalized amyotrophy, Myoclonus, Spasticity	OMIM:609241
Autosomal Recessive Spastic Paraplegia Type 5A	Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Lower limb amyotrophy, Spasti...	ORPHA:100986
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus	OMIM:274240
Keipert Syndrome	Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th...	OMIM:301026
Pontocerebellar Hypoplasia Type 4	Arthrogryposis multiplex congenita, Hypertonia, Myoclonus	ORPHA:166063
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Myopathy, Rhabdomyolysis, Ataxia	ORPHA:713
Isolated Glycerol Kinase Deficiency	Myopathy, Osteoporosis	ORPHA:408
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Skeletal muscle hypertrop...	OMIM:602124
L1 Syndrome	Skeletal muscle atrophy, Aganglionic megacolon, Hemiplegia/hemiparesis, Gait disturbance, Spastic...	ORPHA:275543
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Hip dislocation, I...	ORPHA:171436
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity	OMIM:617493
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, ...	OMIM:255320
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w...	OMIM:616710
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Paraparesis, Fractures of the long bones, Bone pain, Osteo...	OMIM:602080
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Hemiparesis	OMIM:540000
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski si...	ORPHA:88644
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab...	ORPHA:2926
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a...	OMIM:208920
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Impaired p...	ORPHA:352641
Cataract-Ataxia-Deafness Syndrome	Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia	ORPHA:1368
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Siddiqi Syndrome	Flexion contracture, Lower limb amyotrophy, Limb dystonia	OMIM:618635
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,...	OMIM:605588
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy	ORPHA:99944
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia, Hemiatrophy	ORPHA:306669
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop...	OMIM:604563
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus...	OMIM:609560
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Hand muscle weakness, Lower limb amyotrophy, Spastic gait, Progressive spa...	ORPHA:320355
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d...	ORPHA:289560
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, O...	ORPHA:496756
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t...	ORPHA:457205
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis	OMIM:617065
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac...	ORPHA:79126
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop...	OMIM:118220
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ...	ORPHA:464282
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Ataxia, Slurred speech, Flared iliac wing, Dystonia, Hypoplastic acetabulae	OMIM:230650
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im...	ORPHA:100993
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre...	OMIM:128100
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle...	OMIM:158900
Thyrocerebrorenal Syndrome	Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Abnormality of the musculature of th...	ORPHA:3327
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Lower limb spasticity, Foot osteomyelitis, Clonus, Spa...	OMIM:256840
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Valinemia	Hyperkinetic movements	OMIM:277100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti...	OMIM:157640
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Tongue fasci...	ORPHA:2254
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tapered finger, Tremor, Inabi...	OMIM:218000
Familial Isolated Dilated Cardiomyopathy	Myopathy, Palmoplantar keratoderma, Lipoatrophy	ORPHA:154
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Frequent falls	OMIM:301020
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,...	OMIM:617145
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Clumsiness, Athetosis, Distal amyotr...	OMIM:271245
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Optic atrophy, Ataxia	OMIM:300983
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:619317
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas...	OMIM:601455
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ...	ORPHA:206559
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Spasticity, Babinski sign, Amyotrophic lateral sclerosis	OMIM:612069
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Farber Disease	Skeletal muscle atrophy, Abnormality of the hand, Abnormality of the wrist, Paraparesis, Short to...	ORPHA:333
Whistling Face Syndrome, Recessive Form	Inguinal hernia, Shoulder flexion contracture, Elbow flexion contracture, Ulnar deviation of fing...	OMIM:277720
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl...	ORPHA:79263
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Sialidosis Type 2	Skeletal muscle atrophy, Inguinal hernia, Ataxia, Tremor, Flexion contracture, Osteoporosis, Umbi...	ORPHA:87876
Arthrogryposis, Distal, Type 1C	Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Rocker bottom foot, Elbow...	OMIM:619110
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy, Difficulty walking, Weakness of facia...	ORPHA:254875
Amyotrophy, Monomelic	Upper limb muscle weakness, Interosseus muscle atrophy, Fasciculations	OMIM:602440
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Increased adipose tissue, Proximal amyotrophy, Tip-toe gait, Gait disturbance	OMIM:617404
Congenital Disorder Of Glycosylation, Type In	Spasticity, Ataxia, Myoclonus, Adducted thumb	OMIM:612015
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity, Dystonia	OMIM:616139
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis, Facial diplegi...	OMIM:617302
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ...	OMIM:619092
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ...	OMIM:616516
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity	OMIM:213200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy	OMIM:601287
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity	OMIM:618201
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity	ORPHA:33445
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Intellectual Disability-Developmental Delay-Contractures Syndrome	Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Clinodactyly of th...	ORPHA:3454
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Shu...	ORPHA:171695
Ataxia-Telangiectasia-Like Disorder	Joint laxity, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oc...	ORPHA:251347
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Hypertonia, Myoclonus, Spasticity	OMIM:225753
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At...	ORPHA:206448
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn...	OMIM:238970
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Phosphoglycerate Kinase 1 Deficiency	Myopathy, Rhabdomyolysis, Ataxia	OMIM:300653
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Periodic paralysis	OMIM:170400
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Limited e...	OMIM:300280
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Spastic paraplegia, Dystonia	OMIM:105300
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop...	OMIM:118200
Nemaline Myopathy 10	Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:616165
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Paresthesia, Generalized amyotrop...	ORPHA:79279
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, Ankle clonus, Bradykinesia, Short foo...	OMIM:617435
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, Hyperkinetic movement...	OMIM:620089
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Fa...	ORPHA:276244
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Optic atrophy, Hyporeflexia of upper limbs, Myoclonus	OMIM:609056
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson...	OMIM:614298
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Orthostatic hypotension, Dysesthesia, ...	ORPHA:139417
Crisponi/Cold-Induced Sweating Syndrome 1	Facial palsy, Tapered finger, Elbow flexion contracture, Opisthotonus, Talipes equinovarus, Radia...	OMIM:272430
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Upper limb muscle weakness, Distal amyotrophy	OMIM:607791
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy, Optic atrophy	OMIM:618236
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276241
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Somatic sensory dysfunction, Steppage gait, Limb muscle weakness	OMIM:620378
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Single transverse palmar crease, Flexion contracture, Arthrogryposis multiplex congenita, Clinoda...	ORPHA:178148
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Myoclonus	OMIM:204500
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Dyston...	ORPHA:561854
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Knee flexion contracture, Camptodactyly, Cubitus valgus, Spasticity	OMIM:619694
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:204300
Gerstmann-Straussler-Scheinker Syndrome	Acroparesthesia, Dysesthesia, Gait ataxia, Paresthesia, Abnormality of extrapyramidal motor funct...	ORPHA:356
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexio...	OMIM:255200
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Myasthenic Syndrome, Congenital, 12	Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death	OMIM:301021
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction velocity, Babinski si...	OMIM:618356
Arachnoid Cyst	Facial palsy, Inability to walk, Paraparesis, Cranial nerve compression, Slurred speech, Distal s...	ORPHA:2356
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis...	OMIM:617710
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Autosomal Recessive Spastic Paraplegia Type 20	Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Abnormality of the hand, A...	ORPHA:101000
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr...	ORPHA:466722
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Bronchopulmonary Dysplasia	Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration	ORPHA:70589
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Ataxia, Flexion contracture, Abnormal pyramidal sign, Babinski sign, Spa...	ORPHA:59
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ...	OMIM:619040
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue	OMIM:602541
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Tremor, EMG: myopathic abnormalities, Overlapping toe, Delayed skeletal maturation	ORPHA:457365
Asbestos Intoxication	Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp...	ORPHA:2302
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D...	ORPHA:98889
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ata...	OMIM:617695
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized...	OMIM:605013
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Ataxia, Inability to walk, Abnormal pyramidal sign, Optic atrophy, Dista...	ORPHA:254930
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Decreased muscle ma...	ORPHA:3041
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge...	ORPHA:845
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Ataxia, Osteoporosis, Spastic tetraplegia, Myoclonus, Erratic myoclonus	OMIM:619971
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoclonus, Loss of ambul...	OMIM:618241
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m...	ORPHA:1159
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Dystonia	ORPHA:139406
Meconium Aspiration Syndrome	Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra...	ORPHA:70588
Spinocerebellar Ataxia 34	Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp...	OMIM:133190
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal pyramidal sign, Gait imbalance, Loss of ambulation, Weakness of...	ORPHA:329336
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Hypertonia, Limb tremor, Myoclonus	OMIM:300699
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst...	OMIM:300894
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy	OMIM:613723
Stiff Skin Syndrome	Lipodystrophy, Elbow flexion contracture, Limited shoulder movement, Knee flexion contracture, Ca...	OMIM:184900
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations	OMIM:613435
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski...	OMIM:234200
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr...	ORPHA:247234
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Generalized joint laxity, Delayed skeleta...	ORPHA:502423
Hereditary Hyperekplexia	Ataxia, Hiatus hernia, Rigidity, Joint stiffness, Hip dislocation, Hypertonia, Gait disturbance, ...	ORPHA:3197
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Arachnodactyly, Inability to walk, Babinski sign, Hyperkinetic movements...	OMIM:616420
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertonia, Opisthotonus	OMIM:616896
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Weakness of facial mu...	OMIM:616239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Myopathy, Ataxia, Gait ataxia	OMIM:613077
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Patchy o...	OMIM:112250
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Distal amyo...	OMIM:270700
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Athetosis...	OMIM:612073
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hypomimic face, Dystonia, Limb...	ORPHA:70594
Spinocerebellar Ataxia Type 13	Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ...	ORPHA:98768
Autosomal Recessive Spastic Paraplegia Type 39	Lower limb spasticity, Babinski sign, Spastic paraplegia, Generalized limb muscle atrophy, Gait a...	ORPHA:139480
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,...	OMIM:254090
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscl...	ORPHA:486815
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop...	OMIM:607831
Catifa Syndrome	Inguinal hernia, Gait disturbance, Camptodactyly	OMIM:618761
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga...	OMIM:616795
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy	ORPHA:42
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involv...	ORPHA:88630
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Prune1-Related Neurological Syndrome	Clonus, Spastic tetraparesis, Inability to walk, Optic atrophy, Bilateral talipes equinovarus, To...	ORPHA:544469
Rahman Syndrome	Hypertonia, Accelerated skeletal maturation, Talipes equinovarus, Camptodactyly	OMIM:617537
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,...	OMIM:610978
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Distal amyotrophy, Joint hypermobility, Distal sensory impai...	OMIM:608895
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness	ORPHA:725
Richards-Rundle Syndrome	Ataxia, Joint stiffness, Reduced bone mineral density, Distal amyotrophy, Hypertonia, Gait distur...	ORPHA:1399
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis, Joint contracture, Lower l...	OMIM:260600
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Developmental And Epileptic Encephalopathy 109	Spasticity, Gait ataxia, Myoclonus, Left ventricular hypertrophy, Crouch gait	OMIM:620145
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lipodystrophy, Myopathy, Muscular dystrophy, Lower limb muscle weakness	OMIM:615980
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy	OMIM:232400
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Proximal amyotrophy	OMIM:612998
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait disturbance, Myoclonu...	ORPHA:508093
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Unsteady gait, Myoclonus	OMIM:610090
Madras Motor Neuron Disease	Facial palsy, Babinski sign, Optic atrophy, Limb fasciculations, Distal amyotrophy	ORPHA:137867
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Inability to walk, Flexion contracture, Small hand, Narrow pa...	OMIM:615547
Imagawa-Matsumoto Syndrome	Accelerated skeletal maturation, Large hands, Camptodactyly, Umbilical hernia, Clinodactyly	OMIM:618786
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Broad-based gait, Short humerus, Swan neck-like deformities of the finge...	OMIM:616716
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Decreased compound...	OMIM:602433
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif...	OMIM:255125
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Speech apraxia, Lower limb spasticity, Postural tremor, Arachnodactyly, Rigidity, Oculomotor apra...	ORPHA:412057
Pontocerebellar Hypoplasia, Type 1B	Skeletal muscle atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations, Oculomotor ...	OMIM:614678
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Pathologic fracture	OMIM:618193
Spinal Arteriovenous Metameric Syndrome	Paraparesis, Cutaneous angiolipomas, Bone pain	ORPHA:53721
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy	ORPHA:91130
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Incoordination, Ataxia, Abnormality of the hand, Arthrogryposis-like hand anomaly, Ma...	ORPHA:369891
Oromandibular Dystonia	Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ...	ORPHA:93958
Narp Syndrome	Optic disc pallor, Ataxia, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Abnormal mit...	ORPHA:644
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Skeletal muscle atrophy, Ataxia, Loss of ability to walk in first decade, Flexion contracture, Hy...	OMIM:300243
Ceroid Lipofuscinosis, Neuronal, 3	Parkinsonism, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Loss of amb...	OMIM:204200
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Pontocerebellar Hypoplasia, Type 1D	Multiple joint contractures, Flexion contracture, Generalized amyotrophy, Tongue fasciculations, ...	OMIM:618065
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Left ...	OMIM:618228
Mohr-Tranebjaerg Syndrome	Tremor, Intrinsic hand muscle atrophy, Increased susceptibility to fractures, Dystonia, Spasticity	OMIM:304700
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Tremor, Hyperkinetic movements, Gait disturbance, Spasticity, Hip subluxation	OMIM:300957
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ...	ORPHA:324581
Neurofibromatosis, Familial Spinal	Paraparesis, Lower limb muscle weakness	OMIM:162210
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Proximal amyotrophy, Gait ataxia,...	ORPHA:95433
Mcleod Syndrome	Areflexia of upper limbs, Chorea, Rhabdomyolysis, Myopathy, Dystonia, Impaired vibration sensatio...	OMIM:300842
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis ante...	ORPHA:98905
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Inability to walk, Distal sens...	ORPHA:36386
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Skeletal muscle atrophy, Skeletal muscle hypertrophy	ORPHA:101082
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Acquired Partial Lipodystrophy	Myopathy, Lipoatrophy	ORPHA:79087
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia	OMIM:620358
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Skeletal muscle atrophy, Dysmetria	OMIM:615578
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Postaxial hand polydactyly, Pectoral muscle hypopl...	OMIM:136760
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop...	OMIM:255160
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Nemaline bo...	OMIM:616549
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor, Babinski sign, Tetraplegia, Tip-toe gait, Spasticity, S...	ORPHA:447760
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Optic atrophy, Progressive cerebellar ataxia, Chin myoclonus, Myoclon...	ORPHA:263516
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Coasy Protein-Associated Neurodegeneration	Oromandibular dystonia, Parkinsonism, Difficulty walking, Spastic paraparesis	ORPHA:397725
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan...	OMIM:277590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t...	OMIM:607876
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind...	OMIM:154275
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa...	ORPHA:254892
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ataxia, Arachnodactyly, Flexion contracture, Calcaneovalgus deformity, Adducted thumb, Hypertonia...	ORPHA:562528
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements	OMIM:618374
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Arthrogryposis multiplex congenita, Overlapp...	OMIM:614262
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,...	ORPHA:99027
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Oculodentodigital Dysplasia	Ataxia, Paraparesis, Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Joint contracture of t...	OMIM:164200
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Weakness of facial musculature	OMIM:201470
Choreoacanthocytosis	Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Parkins...	OMIM:200150
Harel-Yoon Syndrome	Ataxia, Inability to walk, Optic atrophy, Distal amyotrophy, Hip dysplasia, Dystonia, Spasticity	OMIM:617183
Congenital Myopathy 9A	EMG: myopathic abnormalities, Tongue fasciculations, Akinesia	OMIM:618822
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Ataxia, Tapered finger, Inability to walk, Clinodactyly, Optic atrophy, Dysmetria, Camptodactyly,...	OMIM:619576
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Metaphyseal widening, Babinski sign, Flexion ...	OMIM:300232
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limit...	OMIM:121050
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Inguinal hernia, Dystonia, Rocker bottom foot, Akinesia, Flexion contracture, ...	OMIM:618947
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym...	ORPHA:2902
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,...	OMIM:608931
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Gait disturbance, Myopathy	ORPHA:85329
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Bone pain, Myoclonus, Erlenmeyer flask deformity of the femurs, Intention tremor	OMIM:610539
Chanarin-Dorfman Syndrome	Myopathy, Ataxia	OMIM:275630
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Limited wrist extension, ...	ORPHA:98915
Microtriplication 11Q24.1	Speech apraxia, Metatarsus adductus, Limitation of joint mobility, Small hand, Genu valgum, Short...	ORPHA:289522
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Peroxisome Biogenesis Disorder 6B	Impaired vibratory sensation, Ataxia, Unsteady gait, Impaired distal vibration sensation, Limb at...	OMIM:614871
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Osteoporosis	OMIM:618234
Dpm1-Cdg	Ataxia, Sandal gap, Optic atrophy, Knee flexion contracture, Muscular dystrophy, Camptodactyly, L...	ORPHA:79322
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Abnormal pyramidal sign, Spas...	OMIM:615419
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Impaired distal vibration se...	OMIM:606002
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Dystonia, Joint contracture	OMIM:617664
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu...	ORPHA:99956
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul...	OMIM:607694
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Tremor, Decreased nerve conduction velocity, Delayed skeletal ma...	ORPHA:812
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Progressive flexion contractures, Joint stiffness, Osteolysis, Abnormal ...	ORPHA:2028
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Ataxia, Myoclonus, Dystonia	OMIM:620094
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Tremor, Osteoporosis, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Ocul...	ORPHA:529665
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Huntington Disease	Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clum...	ORPHA:399
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Flexion contracture, Elbow flexion contracture, Osteoporosis, Kne...	OMIM:214150
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Single transverse palmar crease, Tremor, Hip dysplasia, Hyperkinetic movements, Upper limb spasti...	ORPHA:457240
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio...	OMIM:604320
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Delayed skeletal maturation, Limb ataxia, Dysmetria, Distal se...	OMIM:617675
Ataxia-Telangiectasia	Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spasticity	ORPHA:100
Ataxia-Oculomotor Apraxia 3	Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Oculomotor apraxia, Frequent falls	OMIM:615217
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Inguinal hernia, Shoulder flexion contracture, Re...	OMIM:193700
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Optic disc pallor, Tremor, Unsteady gait, Myopathy, Dystonia, Spasticity	OMIM:615512
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Clinodactyly of the 5th finger	OMIM:619422
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Giant Axonal Neuropathy 1, Autosomal Recessive	Facial palsy, Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Distal amyo...	OMIM:256850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hypertonia, Flexion contracture, Rocker bottom foot, Camptodactyly	OMIM:604273
Infant Acute Respiratory Distress Syndrome	Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema	ORPHA:70587
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormalit...	ORPHA:289494
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Camptodactyly	OMIM:619751
Peho-Like Syndrome	Optic atrophy, Myoclonus, Tapered finger	OMIM:617507
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Rhizomelia, Tremor, Brachioradialis areflexia, Flexion contracture, Opisthotonus, Choreoa...	OMIM:616271
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, Death in infancy	OMIM:300219
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia	OMIM:618247
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Gait disturbance, Myoclonus, Abnormality of extrapyramidal m...	OMIM:607822
Myopathy With Extrapyramidal Signs	Joint laxity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Calf mu...	OMIM:615673
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Abnormal autonomic n...	OMIM:614498
Immunoneurologic Disorder, X-Linked	Neonatal death	OMIM:300076
Duchenne Muscular Dystrophy	Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy	ORPHA:98896
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Hemiparesis, Hypertonia, L...	OMIM:619737
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hi...	OMIM:615356
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Rigidity, Tremor, Dystonia	OMIM:615010
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Inguinal hernia, Arachnodactyly, Facial hypotonia, Atrophic scars, Bilateral talipe...	OMIM:615539
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Broad-based gait, Ataxia, Clinodactyly, Babinski sign, Macroglossia, Talipes equinovarus, Apraxia...	ORPHA:397709
Lissencephaly 8	Appendicular spasticity, Skeletal muscle atrophy, Optic atrophy, Talipes equinovarus	OMIM:617255
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Myoclonus	OMIM:254800
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Accelerated skeletal mat...	OMIM:175700
Peroxisome Biogenesis Disorder 5B	Joint laxity, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Limitation of joint mobility, Hip dislocation, Slender long bone, Gait d...	ORPHA:2840
Episodic Ataxia, Type 5	Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia	OMIM:613855
Microcephaly, Amish Type	Flexion contracture, Optic atrophy, Myoclonus, Limb hypertonia	OMIM:607196
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Frequent falls, Impaired pain sensation, Inability to ...	ORPHA:99949
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Limited knee extensio...	ORPHA:36387
Recombinant Chromosome 8 Syndrome	Hypertonia, Joint contracture of the hand, Clinodactyly of the 5th finger, Camptodactyly	OMIM:179613
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Spastic tetraparesis, Craniosynostosis, Knee f...	ORPHA:284417
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Quadriceps m...	OMIM:255800
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ...	ORPHA:280210
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin...	OMIM:211530
Spinocerebellar Ataxia 10	Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb...	OMIM:603516
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia	OMIM:250620
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Ulnar deviation of the hand, Limb j...	OMIM:612079
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Inguinal hernia, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion co...	OMIM:616266
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Ataxia, Single transverse palmar crease, Spastic paraplegia, Optic atrop...	OMIM:614969
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy	ORPHA:352447
Sandhoff Disease	Skeletal muscle atrophy, Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired ...	OMIM:268800
Glycogen Storage Disease X	Myopathy, Rhabdomyolysis	OMIM:261670
Glut1 Deficiency Syndrome 2	Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612126
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor ...	OMIM:619527
Basilicata-Akhtar Syndrome	Single transverse palmar crease, Short foot, Progressive spasticity, Short palm, Camptodactyly, A...	OMIM:301032
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B...	ORPHA:52368
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Vocal cord paresis, Optic disc pallor, Optic atrophy, ...	OMIM:601152
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sa...	OMIM:201000
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Spasticity, Campto...	ORPHA:2804
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s...	OMIM:105210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy	OMIM:617184
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperkinetic movements, Ataxia	OMIM:271980
Sneddon Syndrome	Facial palsy, Tremor, Atrophic scars, Impaired distal tactile sensation, Hemiplegia	OMIM:182410
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Proximal limb muscle stiffness, Myoclonic s...	OMIM:184850
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia	ORPHA:3348
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Joint laxity, Sandal gap, Tremor, Small hand, Gait ataxia, Short fo...	OMIM:300354
Xp21 Deletion Syndrome	Joint laxity, Decreased muscle mass, Osteoporosis, Reduced bone mineral density, Finger clinodact...	ORPHA:261476
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Myoclonus, Eyelid myoclonus	OMIM:618357
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Limited knee flexion, ...	OMIM:615065
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Ataxia, Optic atrophy, Macroglossia, Talipes equinovarus,...	ORPHA:79325
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Inability to walk by childhood/adolescence, Distal sen...	OMIM:214400
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Multiple prenatal fractures, Flexion contractur...	OMIM:616867
Myopathy, Myofibrillar, 8	Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Distal joint laxity...	OMIM:617258
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Igg4-Related Pachymeningitis	Somatic sensory dysfunction, Paraparesis, Abnormality of cervical plexus, Abnormality of the brac...	ORPHA:449427
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovaru...	OMIM:614815
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Trisomy X	Tremor, Joint hyperflexibility, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:3375
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy, Rocker bottom foot, Joint hyperflexibility	ORPHA:85283
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Dravet Syndrome	Incoordination, Parkinsonism, Tibial torsion, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fin...	ORPHA:33069
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Chorea, Opti...	ORPHA:506
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk...	ORPHA:391428
Split-Hand/Foot Malformation 3	Split hand, Camptodactyly	OMIM:246560
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni...	OMIM:253310
Braddock-Carey Syndrome 1	Clinodactyly, Small hand, Spastic diplegia, Talipes equinovarus, Camptodactyly, Enamel hypoplasia	OMIM:619980
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t...	OMIM:312080
Sjogren-Larsson Syndrome	Spasticity, Flexion contracture, Enamel hypoplasia, Spastic paraparesis	OMIM:270200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormality of the hand, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Abnormal upper moto...	OMIM:221770
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ...	ORPHA:225147
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity	ORPHA:542310
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk...	OMIM:146500
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Death in infancy, Death in childhood	OMIM:620265
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi...	ORPHA:83629
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Delayed skeletal maturation, Short distal phalanx of finger, Ulnar devia...	ORPHA:2013
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ...	ORPHA:171881
Adenylosuccinase Deficiency	Skeletal muscle atrophy, Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spa...	OMIM:103050
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx...	ORPHA:765
Cystathioninuria	Tremor, Talipes equinovarus	ORPHA:212
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot...	OMIM:271225
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly	OMIM:264180
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy	ORPHA:371
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat...	ORPHA:2388
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive...	ORPHA:1020
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Hip dislocation, Dysmetria, Gait ataxia, Optic atrophy, ...	OMIM:614381
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Episodic ataxia, Myoclonus, Morning myoclonic jerks, Truncal ataxia	OMIM:607682
Camurati-Engelmann Disease, Type 2	Waddling gait, Skeletal muscle atrophy, Osteopenia, Hip contracture, Knee flexion contracture, Lo...	OMIM:606631
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop...	ORPHA:98908
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Postaxial polydactyly, Tremor, Poor coordination, Gait disturbance, Abnormality of pain s...	ORPHA:544254
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Hypertonia, Gait disturbance, Hyperkinetic movements	OMIM:236270
Hemimegalencephaly	Hemiparesis, Optic atrophy, Myoclonus, Abnormal neuron morphology	ORPHA:99802
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Ataxia, Optic atrophy, Distal sensory impairment, Facial diplegia, Facia...	OMIM:613559
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma...	ORPHA:367
Melorheostosis	Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Bone pain, Upper limb a...	ORPHA:2485
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death	OMIM:615228
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Inability to walk, Quadriceps muscle weakne...	ORPHA:70
Rett Syndrome	Skeletal muscle atrophy, Gait apraxia, Truncal ataxia, Gait ataxia, Short foot, Dystonia, Spasticity	OMIM:312750
Lennox-Gastaut Syndrome	Falls, Myoclonus	ORPHA:2382
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Coxa vara, Hypertonia, Wrist flexion contracture, Increased ...	ORPHA:800
Sengers Syndrome	Osteopenia, Myopathy	OMIM:212350
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Optic atrophy, Myoclonus	OMIM:619057
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Myoclonus, Opisthotonus	OMIM:619814
Developmental And Epileptic Encephalopathy 46	Tremor, Limb hypertonia	OMIM:617162
Congenital Myopathy 19	Facial hypotonia, Skeletal muscle atrophy, Congenital contracture, Gait disturbance	OMIM:618578
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Sneddon Syndrome	Tremor, Chorea, Hemiparesis	ORPHA:820
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli...	OMIM:618056
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Congenital Myopathy 12	Arachnodactyly, Akinesia, Jaw contracture, Camptodactyly, Overlapping fingers, Joint contracture ...	OMIM:612540
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Developmental And Epileptic Encephalopathy 82	Inability to walk, Spastic tetraplegia, Spastic paraparesis	OMIM:618721
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph...	OMIM:619542
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death	OMIM:619602
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Overlapping toe, Hand clenching, Cutaneous syndactyly, Talipes equinovarus, ...	OMIM:617822
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Gait disturbance, E...	OMIM:609286
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus	OMIM:610992
Cystinosis	Myopathy, Gait disturbance, Abnormal pyramidal sign, Rickets	ORPHA:213
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia	OMIM:312170
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformity, Optic atrophy, Contract...	ORPHA:3078
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Elbow flexion contracture, Spastic tetraplegia, Small hand, Knee...	ORPHA:371364
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death	OMIM:612138
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait	ORPHA:3077
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ...	ORPHA:171430
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Ataxia, Arachnodactyly, Broad hallux, Inability to walk, Flexion contrac...	ORPHA:481152
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly	OMIM:613604
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Congenita...	ORPHA:456312
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Short 3rd toe, Delayed skeletal maturation, Short 2nd toe, Short 5th finger, Myoclonus, Short 4th...	OMIM:619060
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Tonne-Kalscheuer Syndrome	Broad-based gait, Congenital diaphragmatic hernia, Tremor, Spasticity, Broad thumb, Brachydactyly	OMIM:300978
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Somatic sensory dysfunction, Dysesthesia, Progressive spastic parap...	ORPHA:79093
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Death in childhood	OMIM:614096
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Limitation of joint mobility	ORPHA:1192
Idiopathic Camptocormia	Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatty replacement of skeletal muscle, Oste...	ORPHA:1320
Neuraminidase Deficiency	Skeletal muscle atrophy, Inguinal hernia, Slurred speech, Dysmetria, Epiphyseal stippling, Myoclonus	OMIM:256550
Developmental And Epileptic Encephalopathy 51	Skeletal muscle atrophy, Inability to walk, Babinski sign, Abnormal pyramidal sign, Dystonia	OMIM:617339
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy	OMIM:242500
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology, Ataxia, Myoclonus, Dystonia	ORPHA:163921
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy, Optic atrophy	ORPHA:477814
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, Single transver...	OMIM:618291
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia	ORPHA:1933
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn...	ORPHA:435938
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Osteoporosis, Camptodactyly	OMIM:616006
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Increased variability in muscle fiber diameter, Limb dystonia	OMIM:604377
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Osteoporosis, Spastic tetraplegia, Optic atrophy, Opisthotonus, Hypertonia, ...	OMIM:615851
Oxoglutaric Aciduria	Skeletal muscle atrophy, Hypertonia, Ataxia	ORPHA:31
Combined Oxidative Phosphorylation Deficiency 11	Myopathy, Tongue fasciculations, Myoclonus	OMIM:614922
Rett Syndrome	Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnorma...	ORPHA:778
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Delayed s...	ORPHA:404454
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Inguinal hernia, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upp...	ORPHA:485350
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Fasciculations	ORPHA:2942
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Lower limb spasticity, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, Flexion contracture,...	OMIM:620029
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Impaired pain sensation, Hip dysplasia, Camptodactyly, Hemihypot...	ORPHA:412035
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Stiff neck, Tremor, Opisthoto...	ORPHA:79139
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involuntary movements, Babinski sign, Optic...	ORPHA:480864
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Knee flexion contracture, Femoral bowing, Tibial bowing, Short t...	OMIM:601559
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc...	OMIM:305620
Pure Mitochondrial Myopathy	Waddling gait, Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy,...	ORPHA:254854
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Joint stiffness, Tremor, Inability to walk, Optic atro...	OMIM:617988
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,...	ORPHA:139396
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Rigidity, Inability to walk, Osteoporosis, Athetosis, Spasticity	OMIM:257200
Axial Osteomalacia	Myopathy, Increased bone mineral density, Osteomalacia	OMIM:109130
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ...	ORPHA:244
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of...	ORPHA:1358
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Short humerus, Short femur, Unsteady gait, Flexion contracture, Ragged-r...	ORPHA:17
Fatty Acid Hydroxylase-Associated Neurodegeneration	Generalized dystonia, Progressive spastic paraparesis, Optic atrophy, Progressive spastic quadrip...	ORPHA:329308
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Myopathy, Shoulder girdle muscle weakness, Difficulty walking, Increased intramyocellular...	ORPHA:98907
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Spastic gait, Progressive spastic paraplegia	ORPHA:2821
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Congenital hip dislocation, Ataxia, Fractures of the long bones, Optic a...	ORPHA:496641
Myoclonic Epilepsy Of Infancy	Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination	ORPHA:86909
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Congenital hip dislocation, Decreased hip abduction, Camptodactyly of fing...	OMIM:114300
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy, Unsteady gait, Distal sensory impairment	OMIM:300614
Flynn-Aird Syndrome	Joint stiffness, Skeletal muscle atrophy, Ataxia, Impaired pain sensation	ORPHA:2047
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Paralysis	OMIM:612300
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Limitation of joint...	OMIM:224400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Inguinal hernia, Elbow contracture, Craniosynostosis, Tarsal s...	OMIM:178110
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Abnormality of skeletal...	ORPHA:2348
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p...	OMIM:168600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Inguinal hernia, Omphalocele, Overlapping toe, Diastasis recti, Single tr...	ORPHA:254528
Dystonia-Aphonia Syndrome	Generalized dystonia, Unsteady gait, Macroglossia, Gait disturbance, Myoclonus, Oromandibular dys...	ORPHA:412217
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Loss of ambulation, Right hemiplegia, Decrea...	OMIM:607426
Cog8-Cdg	Skeletal muscle atrophy, Ataxia, Myoclonus	ORPHA:95428
Waardenburg Syndrome, Type 4A	Aganglionic megacolon, Ataxia, Spastic paraparesis	OMIM:277580
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Limb hypertonia	OMIM:620327
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Oculomotor apraxia, Skeletal muscle atrophy	OMIM:619759
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Ataxia, Myoclonus	OMIM:618225
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death	OMIM:601612
Usher Syndrome	Myopathy, Vestibular areflexia, Ataxia, Abnormal dental enamel morphology	ORPHA:886
Native American Myopathy	Joint laxity, Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber si...	ORPHA:168572
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ...	ORPHA:169189
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Stiff neck,...	ORPHA:297
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Joint laxity, Congenital hip dislocation, Ataxia, Limb-girdle muscle weakness, Dis...	ORPHA:98914
Congenital Myasthenic Syndrome	Waddling gait, Joint laxity, Congenital hip dislocation, Ataxia, Limb-girdle muscle weakness, Dis...	ORPHA:590
Abetalipoproteinemia	Impaired vibratory sensation, Osteopenia, Broad-based gait, Ataxia, Impaired distal proprioceptio...	ORPHA:14
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Optic nerve hypoplasia, Metatarsus adductus, Calcaneovalgus deformity, Camptodact...	OMIM:612513
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly	OMIM:617333
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus, Rhabdomyolysis, Babinski sign, Skeletal myopathy, Tip-toe gait, Left ventricul...	ORPHA:746
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:306674
Developmental And Epileptic Encephalopathy 89	Omphalocele, Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Talipes equin...	OMIM:619124
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Distal amyotrophy, Difficulty walking, Increas...	OMIM:164310
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner...	OMIM:616840
Cardiomyopathy, Dilated, 2H	Neonatal death	OMIM:620203
Immunodeficiency 9	Myopathy, Difficulty walking, Amelogenesis imperfecta	OMIM:612782
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Glutamine Deficiency, Congenital	Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hemiparesis, Paraparesis, Paraplegia	ORPHA:79124
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Lipoatrophy, Abnorma...	ORPHA:79083
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp...	ORPHA:280229
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Ataxia, Progressive flexion contractures, Equinus calcaneus, Chorea, 2-3 toe syndac...	ORPHA:522077
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death	OMIM:614870
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ataxia, Broad hallux, Proximal placement of thumb, Tapered finger, Overl...	ORPHA:435638
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Single transverse palmar crease, Tapered finger, Myoclonus, Type 1 muscle fiber predominance, Inc...	OMIM:612949
Galloway-Mowat Syndrome 1	Ataxia, Hiatus hernia, Optic atrophy, Spastic tetraplegia, Talipes equinovarus, Dystonia, Hand cl...	OMIM:251300
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Optic disc pallor, Facial hypotonia, Ataxia, Craniosynostosis, Joint st...	ORPHA:309282
Xeroderma Pigmentosum, Complementation Group F	Tremor, Flexion contracture, Ataxia	OMIM:278760
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sig...	ORPHA:773
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Ataxia, Limb joint contracture, Postural tremor, Tapered finger, Flexion...	OMIM:301072
Hyperekplexia 1	Inguinal hernia, Exaggerated startle response, Hip dislocation, Hypertonia, Myoclonus, Umbilical ...	OMIM:149400
Kennedy Disease	Skeletal muscle atrophy, Gait disturbance	ORPHA:481
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Inguinal hernia, Tetraplegia, Opisthotonus, Hypertonia	OMIM:619272
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, 4-5 toe syndactyly, Humeroradial synostosis...	OMIM:260660
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Arachnodactyly, Congenital contracture, Radioulnar synost...	OMIM:248700
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ...	ORPHA:447753
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Tetanus	Stiff neck, Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiol...	ORPHA:3299
Gm1 Gangliosidosis	Inguinal hernia, Generalized dystonia, Ataxia, Camptodactyly of finger, Joint stiffness, Tremor, ...	ORPHA:354
Glycine Encephalopathy 1	Myoclonus	OMIM:605899
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax...	ORPHA:70595
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Torticollis, Delayed skeletal maturation, Absent phalangeal crease, Sm...	OMIM:611929
Fibrochondrogenesis 1	Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop...	OMIM:228520
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:614175
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Spasticity	ORPHA:803
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis	ORPHA:684
Carnitine Deficiency, Systemic Primary	Myopathy, Reduced muscle carnitine level	OMIM:212140
Behavioral Variant Of Frontotemporal Dementia	Upper motor neuron dysfunction, Gait disturbance, Fasciculations, Abnormality of extrapyramidal m...	ORPHA:275864
Adrenomyodystrophy	Myopathy, Delayed skeletal maturation, Reduced bone mineral density	ORPHA:977
Neurodevelopmental Disorder With Spasticity And Poor Growth	Generalized dystonia, Ataxia, Clonus, Single transverse palmar crease, Achilles tendon contractur...	OMIM:618076
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Decreased muscle mass, Widened atrophic scar, Distal joint laxity, Generalized joint ...	ORPHA:1900
Immunodeficiency 10	Myopathy, Amelogenesis imperfecta	OMIM:612783
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Spastic tetraparesis, Optic atrophy, Myoclonus, Right ventricular hypertrophy, Cli...	OMIM:614261
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,...	OMIM:618019
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Mesomelia, Prominent fingertip pads, Clino...	OMIM:618529
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con...	OMIM:254940
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Calf muscle hypertr...	OMIM:618733
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Facial hypotonia, Involuntary movements, Single transverse palmar crease, Cho...	OMIM:615273
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168605
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Death in childhood	OMIM:619334
Chylomicron Retention Disease	Myopathy, EMG: myopathic abnormalities, Impaired proprioception	ORPHA:71
Developmental And Epileptic Encephalopathy 4	Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia	OMIM:612164
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Action tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis...	ORPHA:309854
Serotonin Syndrome	Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Abnormality of the autonomic ner...	ORPHA:43116
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo...	OMIM:620233
Melas	Abnormal central motor function, Ataxia, Ragged-red muscle fibers, Optic atrophy, Hemiparesis, My...	ORPHA:550
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Ataxia, Left ventricular noncompaction, Myoclonus, Dystonia, Left ventricular ...	OMIM:619167
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos...	OMIM:248370
Nipah Virus Disease	Tremor, Myoclonus	ORPHA:99825
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Long toe, Arachnodactyly, Lipodystrophy, Palmoplantar cutis ...	ORPHA:75496
Sézary Syndrome	Tremor, Skeletal muscle atrophy, Palmoplantar keratoderma	ORPHA:3162
Takenouchi-Kosaki Syndrome	Inguinal hernia, Ataxia, Overlapping toe, Proximal placement of thumb, Tapered finger, Optic atro...	OMIM:616737
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction...	ORPHA:206436
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Clinodactyly of the 5th finge...	OMIM:300963
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614618
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Flexion contracture, Humeroradial synostosis, F...	OMIM:207410
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614619
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Inguinal hernia, Toe syndactyly, Camptodactyly of finger, Sandal gap, Down-slop...	ORPHA:85293
Full Schwannomatosis	Bilateral vestibular schwannoma, Hypoesthesia, Paresthesia, Fasciculations, Lipoma	ORPHA:93921
Sandestig-Stefanova Syndrome	Clinodactyly, Bilateral single transverse palmar creases, Rocker bottom foot, Camptodactyly	OMIM:618804
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Single transverse palmar crease, Squared iliac bones, Small hand, Hypopla...	OMIM:611209
Becker Muscular Dystrophy	Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking	ORPHA:98895
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Inability to walk, Optic atrophy, Upper l...	OMIM:617193
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, ...	OMIM:619847
Congenital Disorder Of Glycosylation, Type Ij	Single transverse palmar crease, Tremor, Flexion contracture, Hypertonia, Clinodactyly of the 5th...	OMIM:608093
Familial Isolated Hypoparathyroidism	Myopathy, Abnormal dental enamel morphology	ORPHA:2238
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Developmental And Epileptic Encephalopathy 23	Myoclonus	OMIM:615859
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Myoclonus	OMIM:617290
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,...	ORPHA:1344
Juvenile Sialidosis Type 2	Lower limb spasticity, Inguinal hernia, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Loss of ambu...	ORPHA:93399
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death	OMIM:615918
Rheumatic Fever	Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Arthritis, Gait disturbance, Hemiba...	ORPHA:3099
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Hypertonia, Myoclonus	OMIM:618240
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Inguinal hernia, Decreased palmar creases, Craniosynostosis, Tapered finge...	ORPHA:2953
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Opitz-Kaveggia Syndrome	Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Single transverse palmar ...	OMIM:305450
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Single transverse palmar crease, Type 2 muscle fiber predominance, Myopa...	OMIM:619743
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur...	OMIM:614856
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Optic atrophy, Generalized amyotrophy, Dystonia, Diaphragmatic eve...	ORPHA:66634
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Flexion contracture, Upper limb asymmetry, Myopathy, Arthriti...	ORPHA:90289
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy, Brachial plexus neuropathy	OMIM:162100
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity	ORPHA:85323
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Optic atrophy, Hemiparesis, Gait disturbance, Spastic paraparesis,...	ORPHA:395
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Broad-based gait, Dorsocervical fat pad, Down-sloping shoulders, Deviation of the 5...	ORPHA:391408
Congenital Myopathy 17	Overlapping fingers, Overlapping toe, Tapered finger, Myopathy, Distal arthrogryposis, Hand clenc...	OMIM:618975
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Duane Retraction Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyl...	ORPHA:233
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Stevenson-Carey Syndrome	Hip dysplasia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu...	ORPHA:90354
Dpagt1-Cdg	Ataxia, Arachnodactyly, Akinesia, Lipodystrophy, Tremor, Inability to walk, Flexion contracture, ...	ORPHA:86309
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Arachnodactyly, Involuntary movements, Recurrent fractures, Inab...	ORPHA:3063
Peroxisome Biogenesis Disorder 2A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Optic nerve dysplasia, Talipes equinovarus,...	OMIM:214110
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Pain insensitivity, Facial hypotonia, Babinski sign, Myoclonus, Spasticity, Abnorma...	ORPHA:364028
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap...	ORPHA:192
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia	ORPHA:683
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Pneumothorax, Optic atrophy, Pulmonary infiltrates...	ORPHA:538
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Ataxia, Abnormal dental enamel morphology, Sho...	ORPHA:2710
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Arachnodactyly, Talipes equinovarus, Camptodactyly	OMIM:301039
Mucolipidosis Ii Alpha/Beta	Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Umbilical ...	OMIM:252500
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Ataxia, Talipes equinovarus, Camptodactyly, Tracheomalacia, Caudal appendage	ORPHA:314679
Multiple Mitochondrial Dysfunctions Syndrome 1	Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci...	OMIM:605711
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Spasticity	OMIM:618862
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture	OMIM:615704
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Myopathy, Abnormal dental enamel morphology	ORPHA:257
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,...	ORPHA:95699
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Arachnodactyly, Myoclonus	OMIM:617600
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Accelerated skeletal maturation, Hypoplastic iliac wing, Long fingers, ...	OMIM:617561
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia	OMIM:607598
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Joint laxity, Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Spastic paraparesis, ...	OMIM:619234
Wolfram Syndrome	Ataxia, Joint stiffness, Optic atrophy, Myopathy, Abnormal autonomic nervous system physiology	ORPHA:3463
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Rhabdomyolysis, Ataxia	ORPHA:79095
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections	ORPHA:2314
Meier-Gorlin Syndrome 1	Flexion contracture, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clinodactyly of...	OMIM:224690
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Delayed skeletal maturat...	ORPHA:3068
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Recurrent fractures, Abnormality of the elbow, Limitation of joint mobil...	ORPHA:1486
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Glass Syndrome	Broad-based gait, Inguinal hernia, Arachnodactyly, Facial hypotonia, Anterior tibial bowing, Tali...	OMIM:612313
Myhre Syndrome	Vertebral fusion, Ataxia, Overlapping toe, Joint stiffness, Hypoplastic iliac wing, Short toe, Ge...	OMIM:139210
Larsen-Like Syndrome, Lethal Type	Neonatal death	OMIM:245650
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Emp...	OMIM:613177
Sialuria	Hyperkinetic movements, Long hallux, Joint hypermobility, 2-3 toe syndactyly	ORPHA:3166
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l...	OMIM:605039
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Joint contracture, Myoclonus	OMIM:614462
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis, Delayed skeletal maturation, Small hand...	ORPHA:2323
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Abnormal dental enamel morphology, Atypical scarring of skin, Camptodact...	OMIM:601701
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Abnormal pyramidal s...	OMIM:612199
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death	OMIM:602199
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity...	ORPHA:500144
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hemiplegia/hemiparesis	ORPHA:156
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Cutaneous syndacty...	OMIM:619148
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy	ORPHA:269
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Tapered finger, Short toe, Joint hyperflexibility, Abnormal hip bone mor...	ORPHA:127
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity	OMIM:614299
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Generalized amyotrophy, Difficulty wal...	ORPHA:572798
Congenital Disorder Of Glycosylation, Type Ih	Talipes equinovarus, Camptodactyly	OMIM:608104
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Single transverse palmar crease, Deep palmar crease, Polydactyly, C...	OMIM:247200
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Myoclonus	OMIM:616158
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Partial duplication of thumb phalanx, Partial duplication of the phalanx of hand, ...	OMIM:616331
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia	OMIM:616672
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Tapered finger, Tremor, Brachydactyly	OMIM:619680
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Peho Syndrome	Optic atrophy, Myoclonus, Tapered finger	OMIM:260565
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Left...	OMIM:618321
Pyridoxal Phosphate-Responsive Seizures	Hypertonia, Unsteady gait, Myoclonus	ORPHA:79096
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Osteopenia, Inguinal hernia, Myopathy, Atrophic scars, Ta...	OMIM:614557
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy	OMIM:613730
Renpenning Syndrome	Clinodactyly of the 5th finger, Skeletal muscle atrophy, Abnormal thumb morphology, Joint stiffness	ORPHA:3242
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Camptodactyly, Clinodactyly of the 5...	OMIM:617602
Scheie Syndrome	Cerebral palsy, Joint stiffness, Limitation of joint mobility, Spastic paraparesis, Abnormal nerv...	ORPHA:93474
Pseudohypoparathyroidism Type 2	Calcinosis, Laryngeal dystonia, Paresthesia, Myoclonic spasms	ORPHA:94090
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo...	OMIM:231070
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus	OMIM:619424
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Optic disc pallor, Multiple joint contractures, Camptodactyly of finger, A...	ORPHA:468631
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy	OMIM:608390
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Single transverse palmar crease, Delayed skeletal maturation, Slender long bone, C...	OMIM:613385
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Arachnodactyly, Craniosynostosis, Metatarsus adductus,...	OMIM:182212
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Increased bone mineral density, Reduced subcutaneous adip...	OMIM:131300
Carcinoid Syndrome	Myopathy	ORPHA:100093
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myopathy, Rhabdomyolysis	ORPHA:228305
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Overlapping toe, Craniosynostosis, Tapered finger, Delayed skeletal matu...	OMIM:309590
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
12Q14 Microdeletion Syndrome	Tremor, Skeletal muscle atrophy, Osteopoikilosis, Clinodactyly of the 5th finger	ORPHA:94063
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex...	ORPHA:445038
D-Glyceric Aciduria	Chorea, Myoclonus, Spasticity	ORPHA:941
Purine Nucleoside Phosphorylase Deficiency	Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity	ORPHA:760
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Sagittal craniosynostosis, Small hand, Camptodactyly, Bilateral single transvers...	ORPHA:459061
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Lipodystrophy, Single transverse palmar crease, Down-sloping shoulders, ...	OMIM:616200
Gabriele-De Vries Syndrome	Waddling gait, Hallux valgus, Facial hypotonia, Sandal gap, Tremor, Long fingers, Tip-toe gait, D...	OMIM:617557
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Myoclonus	ORPHA:411986
Fanconi Anemia, Complementation Group O	Neonatal death, Death in infancy, Miscarriage	OMIM:613390
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Broad-based gait, Ataxia, Tremor, Gait imbalance, Myoclonus	ORPHA:98794
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Involuntary movements, Clonus, Optic atrophy, Opisthotonus, Myoclonus	OMIM:620352
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Arachnodactyly,...	ORPHA:536545
Hurler Syndrome	Cerebral palsy, Camptodactyly of finger, Limitation of joint mobility, Abnormal pyramidal sign, A...	ORPHA:93473
Scleromyxedema	Myopathy, Abnormality of the hand, Abnormal forearm morphology, Abnormal skeletal muscle morphology	ORPHA:167635
Tetrasomy 15Q26	Arachnodactyly, Camptodactyly	OMIM:614846
Congenital Sialidosis Type 2	Inguinal hernia, Ataxia, Optic atrophy, Dysmetria, Polydactyly, Myoclonus, Umbilical hernia, Spas...	ORPHA:93400
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Inguinal hernia	OMIM:618603
Joubert Syndrome	Ataxia, Aganglionic megacolon, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Ocul...	ORPHA:475
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Skeletal muscle atrophy, Ataxia, Choreoathetosis, Type 2 muscle fiber predominance, Short foot, D...	OMIM:615471
Trisomy 17P	Skeletal muscle atrophy, Tapered finger, Flexion contracture, Macroglossia, Hypertonia, Clinodact...	ORPHA:261290
Epidermal Nevus Syndrome	Osteopenia, Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakness of long fi...	ORPHA:35125
Wolfram Syndrome 1	Tremor, Optic atrophy, Ataxia, Limited mobility of proximal interphalangeal joint	OMIM:222300
Xanthinuria, Type I	Myopathy	OMIM:278300
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Cutaneous finger syndactyly, Short clavicles, ...	OMIM:601390
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Metatarsus adductus, Optic nerve dysplasia, Optic atrophy, Athet...	OMIM:614866
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis	OMIM:617186
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Abnormal autonomic nervous system physiology, Dys...	ORPHA:2828
Familial Infantile Myoclonic Epilepsy	Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus	ORPHA:352582
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death	OMIM:619817
Short-Rib Thoracic Dysplasia 12	Neonatal death, Atelectasis, Pulmonary hypoplasia	OMIM:269860
Acyl-Coa Dehydrogenase 9 Deficiency	Myopathy, EMG: myopathic abnormalities	ORPHA:99901
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Congenital hip dislocation, Short metacarpal, Elbow contr...	OMIM:617137
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Delayed skeletal maturation, Small hand, Short foot, Cutaneous finger syndactyly, Tal...	OMIM:235510
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Ataxia, Sandal gap, Tremor, Inability to walk, Small hand, 2-3 toe syndact...	OMIM:619229
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity	OMIM:616640
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Hypertonia, Myoclonus	ORPHA:289266
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Myopathy, Hypocalcification of dental enamel	ORPHA:169090
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Rhabdomyolysis	OMIM:609015
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Single transverse palmar crease, Trem...	OMIM:614947
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Camptodactyly of finger, Rocker bottom foot, Elbow flexion contracture, Joint cont...	OMIM:602782
Pediatric-Onset Graves Disease	Tremor, Hyperkinetic movements, Craniosynostosis, Accelerated skeletal maturation	ORPHA:525731
Moebius Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia...	ORPHA:570
D-Glyceric Aciduria	Single transverse palmar crease, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Myocl...	OMIM:220120
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equinovarus, Talipes e...	OMIM:618343
Galloway-Mowat Syndrome 3	Arachnodactyly, Hiatus hernia, Hip dislocation, Camptodactyly, Spasticity	OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Optic atrophy, Calf m...	OMIM:253800
Alternating Hemiplegia Of Childhood	Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,...	ORPHA:2131
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Delayed skele...	ORPHA:261323
Trisomy 10P	Thumb contracture, Decreased muscle mass, Poor motor coordination, Abnormality of the hand, Abnor...	ORPHA:171929
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Optic atrophy, Myoclonus, Dystonia	OMIM:617669
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Clinodactyly, Joint hypermobility, Camptodactyly	OMIM:617360
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp...	ORPHA:2215
Whim Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections...	ORPHA:51636
Zygomycosis	Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Air crescent sign, ...	ORPHA:73263
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi...	ORPHA:263297
Meier-Gorlin Syndrome 2	Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, ...	OMIM:613800
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Delayed skeletal maturation, Myopathy, Joint hyperflexibility, Lipoma, B...	ORPHA:109
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Spastic tetraparesis, Congenital diaphragmatic hernia, Tapered ...	OMIM:301044
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Myopathy	OMIM:617713
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Joint hypermobility, Joint hyperflexibility	ORPHA:230839
Adrenomyeloneuropathy	Dysesthesia, Progressive spastic paraparesis, Babinski sign, Distal sensory impairment, Abnormali...	ORPHA:139399
Say-Barber-Miller Syndrome	Craniosynostosis, Babinski sign, Elbow flexion contracture, Hip dislocation, Patellar hypoplasia,...	ORPHA:3132
Mitochondrial Dna Depletion Syndrome 19	Spasticity, Myoclonus, Tetraparesis	OMIM:618972
Neu-Laxova Syndrome	Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis,...	ORPHA:2671
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Flexion contracture, Hernia, Camptodactyly	ORPHA:314588
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Peripapillary atrophy, Pulmonary hypoplasia, Repeated pneumothoraces	ORPHA:536467
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Inguinal hernia	OMIM:620326
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Myoclonus, Osteoporosis, Rickets	OMIM:560000
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus	ORPHA:168491
Hereditary Xanthinuria	Myopathy, Rheumatoid arthritis, Gout	ORPHA:3467
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Inguinal hernia, Broad 2nd toe, Palmoplantar hyperkeratosis, Gait ataxia, Large...	OMIM:280000
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy	OMIM:616828
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections, Facial palsy	ORPHA:258
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Lipoatrophy, T...	ORPHA:51
7Q31 Microdeletion Syndrome	Speech apraxia, Skeletal muscle atrophy, Torticollis, Delayed skeletal maturation, Clinodactyly o...	ORPHA:251061
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intention tremor	OMIM:254900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Cerebral palsy, Opisthotonus	OMIM:210210
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Camptodactyly of toe, Arachnodactyly, Broad femoral metaphyses, Camptodactyly	OMIM:610474
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Arachnodactyly, Facial palsy, Tracheomalacia, Craniofacial osteosclerosis, Osteopath...	OMIM:300373
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Camptodactyly	OMIM:608257
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, EMG: myopathic abnormalities, Triphal...	ORPHA:2549
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology, Ataxia, Myoclonus	OMIM:600072
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy	OMIM:617143
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Limb pain, Tip-toe gait, Gai...	ORPHA:512
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ...	OMIM:617281
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Myoclonus	OMIM:300673
Afibrinogenemia, Congenital	Neonatal death, Death in infancy, Death in adolescence, Death in childhood	OMIM:202400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Steppage gait, Abnormality of peripheral nerve conduction	ORPHA:168563
Galloway-Mowat Syndrome 10	Arachnodactyly, Myoclonus	OMIM:619609
Barth Syndrome	Skeletal myopathy, Gait disturbance, Talipes equinovarus	OMIM:302060
Alg12-Cdg	Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Long fingers, Abnormal bon...	ORPHA:79324
Boomerang Dysplasia	Neonatal death	OMIM:112310
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood	OMIM:618278
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Abnormal autonomic nervous system physiology, Myoclonus	ORPHA:168593
Early-Onset Lafora Body Disease	Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Split Cord Malformation	Paraparesis, Talipes cavus equinovarus, Talipes equinovarus, Lipoma, Distal lower limb muscle wea...	ORPHA:573278
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity	ORPHA:309155
Fabry Disease	Abnormality of the hand, Paresthesia, Abnormal autonomic nervous system physiology, Fasciculation...	OMIM:301500
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Aplasia/...	ORPHA:646
Alexander Disease	Osteopenia, Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, G...	ORPHA:58
Fetal Gaucher Disease	Neonatal death, Death in infancy, Stillbirth	ORPHA:85212
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br...	OMIM:615067
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation...	ORPHA:368
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Flexion contracture, Generalized lipodystrophy, Panniculitis	OMIM:619183
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Stormorken Syndrome	Myopathy	OMIM:185070
9P13 Microdeletion Syndrome	Joint stiffness, Hand tremor, Myoclonus, Clinodactyly of the 5th finger, Umbilical hernia, Absent...	ORPHA:324313
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Babinski sign, Spasticity, Hypertonia, Enamel hypoplasia	OMIM:615802
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death	OMIM:618232
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Inguinal hernia, Cubitus valgus, Metatarsus adductus, Delayed skeletal matu...	OMIM:611962
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Brain-Lung-Thyroid Syndrome	Dystonia, Ataxia, Incoordination, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Fal...	ORPHA:209905
Stromme Syndrome	Myopathy, Preaxial polydactyly, Optic nerve hypoplasia	OMIM:243605
Biotinidase Deficiency	Ataxia, Optic neuropathy, Optic atrophy, Spastic paraparesis, Limb muscle weakness	ORPHA:79241
Lujo Hemorrhagic Fever	Atelectasis	ORPHA:319213
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:232500
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Smal...	ORPHA:96334
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Craniosynostosis, Camp...	OMIM:608156
Acquired Generalized Lipodystrophy	Calf muscle pseudohypertrophy, Accelerated skeletal maturation, Generalized lipodystrophy, Myopat...	ORPHA:79086
Chromosome 16P13.3 Duplication Syndrome	Inguinal hernia, Facial hypotonia, Rocker bottom foot, Proximal placement of thumb, Tapered finge...	OMIM:613458
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Dystonia, Tapered finger, Inability to walk, Limited elbow extension, Adducted th...	OMIM:616973
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram	OMIM:306400
Lymphatic Malformation 12	Neonatal death, Death in adolescence	OMIM:620014
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Camptodactyly	ORPHA:363444
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d...	OMIM:249420
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Smal...	OMIM:619777
Ataxia-Telangiectasia	Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia...	OMIM:208900
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Inguinal hernia, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyper...	OMIM:227330
Aymé-Gripp Syndrome	Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Craniosynos...	ORPHA:1272
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Autoamputation of digits, ...	OMIM:256810
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Inguinal hernia, Short femur, Single transverse pa...	OMIM:616145
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Orofaciodigital Syndrome Type 3	Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Myoclonus, Oculomotor apra...	ORPHA:2752
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Myopathy, Aganglionic megacolon, Proximal femoral epiphysiolysis	OMIM:162300
Schinzel-Giedion Syndrome	Inguinal hernia, Overlapping fingers, Overlapping toe, Aganglionic megacolon, Vocal cord paralysi...	ORPHA:798
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly	OMIM:614230
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly	OMIM:619123
Tyrosinemia Type 2	Tremor, Palmoplantar keratoderma, Ataxia	ORPHA:28378
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly	OMIM:601353
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Aganglionic megacolon, Shortening of all distal phalanges of the fingers, Hip dysplasia, ...	ORPHA:247262
Developmental And Epileptic Encephalopathy 2	Tapered finger, Inability to walk, Small hand, Short foot, Myoclonus	OMIM:300672
Scorpion Envenomation	Hemifacial spasm, Ataxia, Tremor, Rhabdomyolysis, Hyperkinetic movements, Paresthesia, Myoclonus	ORPHA:466677
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Mesomelia, Clinodactyly, Short phalanx of finger, Broad thumb, Camptodac...	OMIM:616894
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Delayed skeletal maturation, Osteoporosis, Camptodactyly	ORPHA:432
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
1P36 Deletion Syndrome	Camptodactyly of finger, Joint stiffness, Hemiplegia/hemiparesis, Optic atrophy, Short foot, Myop...	ORPHA:1606
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par...	ORPHA:79102
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum, Myoclonus	OMIM:258850
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Aplasia/Hyp...	ORPHA:2990
Whipple Disease	Myositis, Ataxia, Abnormal pyramidal sign, Arthritis, Myoclonus	ORPHA:3452
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Angelman Syndrome	Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atrophy, Myoclonus	ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyperkinetic movements, A...	OMIM:617799
H Syndrome	Hallux valgus, Lipodystrophy, Recurrent fractures, Delayed skeletal maturation, Osteolysis, Herni...	ORPHA:168569
Carnitine Palmitoyltransferase Ii Deficiency	Myopathy, Rhabdomyolysis	ORPHA:157
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy	OMIM:245400
Neuroblastoma, Susceptibility To, 1	Bone pain, Ataxia, Myoclonus, Horner syndrome	OMIM:256700
Wilson Disease	Dystonia, Poor motor coordination, Osteomalacia, Tremor, Hypoesthesia, Rigidity, Osteoarthritis, ...	OMIM:277900
Cardiomyopathy, Familial Hypertrophic, 4	Myopathy	OMIM:115197
Hereditary Amyloidosis With Primary Renal Involvement	Myopathy	ORPHA:85450
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Flexion contractur...	ORPHA:487796
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Inguinal hernia, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Lar...	ORPHA:500095
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Craniosynostosis, Postaxial polydactyly, Preaxial p...	OMIM:614976
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Ragged-red muscle fibers, B...	OMIM:252010
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow...	ORPHA:39812
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Postaxial hand polydactyly, Finger syndactyly	ORPHA:110
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Joint laxity, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palma...	OMIM:612474
Williams Syndrome	Osteopenia, Tremor, Dysmetria, Clinodactyly of the 5th finger, Joint laxity, Increased bone miner...	ORPHA:904
Fryns Syndrome	Omphalocele, Aganglionic megacolon, Single transverse palmar crease, Proximal placement of thumb,...	OMIM:229850
Abcd Syndrome	Neonatal death	OMIM:600501
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Inguinal hernia, Single transverse palmar crease, Myopathy, Panniculitis, Clinodactyly, Broad thumb	OMIM:612541
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Osteolysis, Myopathy, Gait disturbance, Narrow iliac wing	ORPHA:3042
Combined Oxidative Phosphorylation Deficiency 57	Myoclonus, Dystonia	OMIM:620167
Walker-Warburg Syndrome	Skeletal muscle atrophy, Optic atrophy, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypoplasia...	ORPHA:899
Oculocerebrorenal Syndrome Of Lowe	Atelectasis, Recurrent respiratory infections, Death in infancy	ORPHA:534
Early Infantile Epileptic Encephalopathy	Tremor, Choreoathetosis, Myoclonus, Broad finger, Dystonia, Episodic ataxia, Umbilical hernia, Sp...	ORPHA:1934
Recon Progeroid Syndrome	Joint laxity, Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Long thumb	OMIM:620370
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Clinodactyly, Camptodactyly	ORPHA:228426
22Q11.2 Deletion Syndrome	Aganglionic megacolon, Atelectasis, Optic atrophy, Abnormal lung lobation	ORPHA:567
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Broad toe, Diastasis recti, Inability to walk, Delayed skeletal maturati...	ORPHA:488632
Immunodeficiency 23	Somatic sensory dysfunction, Ataxia, Myoclonus, Joint hypermobility, Cortical myoclonus	OMIM:615816
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Inability to walk, Rhabdomyolysis, Increased intramyoc...	ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy	OMIM:618839
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Somatic sensory dysfunction, Optic ...	ORPHA:191
Nmda Receptor Encephalitis	Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid...	ORPHA:217253
Donohue Syndrome	Delayed skeletal maturation, Skeletal muscle atrophy, Adipose tissue loss, Large hands	OMIM:246200
Marfan Syndrome	Reduced subcutaneous adipose tissue, Decreased muscle mass, Arachnodactyly, Protrusio acetabuli, ...	OMIM:154700
Werner Syndrome	Skeletal muscle atrophy, Increased bone mineral density, Lipodystrophy, Lipoatrophy, Rocker botto...	ORPHA:902
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory tract infection, Atelectasis	ORPHA:365
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Spasticity, Myoclonus	OMIM:246450
Eales Disease	Optic disc pallor, Spastic paraparesis	ORPHA:40923
Meester-Loeys Syndrome	Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Umbilical hernia, Joint contractur...	OMIM:300989
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati...	ORPHA:284339
Glycerol Kinase Deficiency	Myopathy, Osteoporosis, Muscular dystrophy, Pathologic fracture	OMIM:307030
Malignant Hyperthermia Of Anesthesia	Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab...	ORPHA:423
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis, Myo...	ORPHA:251004
Listeriosis	Somatic sensory dysfunction, Stiff neck, Ataxia, Osteomyelitis, Tremor, Rhabdomyolysis, Hemipares...	ORPHA:533
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Polydactyly, Myoclonus	ORPHA:314655
Argininemia	Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis	OMIM:207800
Chand Syndrome	Atelectasis	ORPHA:1401
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Osteoporosis	OMIM:219080
Cystinosis, Nephropathic	Skeletal muscle atrophy, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum,...	OMIM:219800
Vici Syndrome	Left ventricular hypertrophy, Myopathy	OMIM:242840
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hip dislocation, Hip dysplasia, Talipes equ...	OMIM:617403
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Optic disc pallor, Unsteady gait, Flexion contracture, Difficulty walkin...	ORPHA:90324
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Long fingers, Calcaneovalgus d...	OMIM:256520
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Joint stiffness	OMIM:615934
Renpenning Syndrome 1	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Clinodactyly of the 5th ...	OMIM:309500
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy	OMIM:614300
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Myopathy	OMIM:261740
Leprosy	Skeletal muscle atrophy, Autoamputation of digits, Impaired temperature sensation, Dysesthesia, D...	ORPHA:548
Lafora Disease	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity, Giant soma...	ORPHA:501
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynostosis,...	OMIM:610168
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Osteoporosis, Pelvic girdle...	ORPHA:79240
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus add...	ORPHA:2461
Kinsship Syndrome	Osteopenia, Single transverse palmar crease, Spastic tetraparesis, Coxa valga, Hip dislocation, F...	OMIM:619297
Congenital Myopathy 13	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Bilateral tal...	OMIM:255995
Relapsing Polychondritis	Atelectasis	ORPHA:728
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Reduced subcutaneous adipose tissue, Overlapping toe, Knee flexion contracture, Hip...	OMIM:617402
Sacral Agenesis With Vertebral Anomalies	Neonatal death	OMIM:615709
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Skeletal muscle atrophy, Hypoplastic scapulae, Lipodystrophy, Camptodactyly of fin...	OMIM:256040
Ethylene Glycol Poisoning	Slurred speech, Ataxia, Facial palsy, Myoclonus	ORPHA:31826
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Ayme-Gripp Syndrome	Tapered finger, Radioulnar synostosis, Brachydactyly, Camptodactyly	OMIM:601088
Microphthalmia, Syndromic 2	Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Flexion contracture, 2-3 toe syndactyly, ...	OMIM:300166
Chromosome 1P36 Deletion Syndrome, Proximal	Clinodactyly, Camptodactyly	OMIM:619343
Pgm3-Cdg	Osteomyelitis, Ataxia, Myoclonus, Cortical myoclonus, Brachydactyly	ORPHA:443811
Mednik Syndrome	Neonatal death, Death in infancy, Death in childhood	OMIM:609313
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talip...	OMIM:200110
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Overlapping fingers, Adducted thumb	OMIM:608779
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Ataxia, Myoclonus, Spastic hemiparesis	ORPHA:20
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Talipes equinovarus, ...	OMIM:609192
Proteus Syndrome	Hallux valgus, Finger syndactyly, Decreased muscle mass, Abnormal dental enamel morphology, Macro...	ORPHA:744
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Camptodactyly of finger, Metatarsus adductus, Delayed skeletal maturation, Opt...	OMIM:607872
Hereditary Folate Malabsorption	Skeletal muscle atrophy	ORPHA:90045
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Broad-based gait, Ulnar deviation of the hand, Broad hallux, Long toe,...	ORPHA:261537
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy	OMIM:265120
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Abnormality of the tongue muscle, Inability to walk, Abnormality of mast...	ORPHA:273
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Skeletal muscle atrophy, Flexion contracture, Mitten deformity	ORPHA:89842
Myoclonic Epilepsy Of Lafora	Gait disturbance, Myoclonus, Apraxia	OMIM:254780
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Finger syndactyly, Genu varum	ORPHA:1969
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Spastic tetraplegia, Clonus, Myoclonus	OMIM:619055
Lathosterolosis	Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly, Myoclonus	ORPHA:46059
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death	OMIM:619362
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Osteoporosis	OMIM:219090
Stickler Syndrome	Skeletal muscle atrophy, Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, ...	ORPHA:828
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Tetraparesis, Tracheomalacia	OMIM:203700
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Broad-based gait, Ulnar deviation of the hand, Ataxia, Recurrent fract...	ORPHA:2152
Combined Oxidative Phosphorylation Deficiency 14	Myoclonus	OMIM:614946
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Osteoporosis, Increased sarcoplasmic glycogen	ORPHA:264580
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyly, Broad hallux, A...	ORPHA:261552
Digeorge Syndrome	Atelectasis, Recurrent pneumonia, Recurrent sinusitis	OMIM:188400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal synostosis, Ulnar bowing, Humeroradi...	OMIM:201750
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Myoclonic spasms	ORPHA:73224
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Hypertonia, Ataxia, Myoclonus	OMIM:618426
Loeys-Dietz Syndrome 3	Joint laxity, Uterine prolapse, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynos...	OMIM:613795
Microphthalmia, Syndromic 1	Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Optic...	OMIM:309800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Broad-based gait, Exaggerated startle response, Optic disc pallor, Invo...	ORPHA:438213
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Ataxia, Joint hypermobility, Metatarsus adductus, Flexi...	OMIM:259050
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy	OMIM:615895
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Increased bone mineral density, Lipoatrophy, Roc...	ORPHA:79474
Dermatomyositis	Inflammatory myopathy, Cellulitis, Chondrocalcinosis, Arthritis	ORPHA:221
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Somatic sensory dysfunction, Swelling of proximal interphalangeal joints...	ORPHA:3260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Optic atrophy, Muscular dystrophy, Myoclonus	OMIM:253280
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr...	ORPHA:558
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, Abnormal toe morph...	ORPHA:79500
Immunodeficiency 31C	Osteopenia, Skeletal muscle atrophy, Osteomyelitis	OMIM:614162
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Delayed skeletal maturation, Osteoporosis, Recurrent fractures	OMIM:222700
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Rhabdomyosarcoma	ORPHA:647
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy	OMIM:618252
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Large hands	ORPHA:508
Crimean-Congo Hemorrhagic Fever	Stiff neck, Fasciculations	ORPHA:99827
Pierson Syndrome	Skeletal muscle atrophy	OMIM:609049
Myasthenic Syndrome, Congenital, 8	Weakness of facial musculature	OMIM:615120

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Agrn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Agrn.

No publications found that use IMPC mice or data for Agrn.

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MGI Allele	Allele Type	Produced
Agrn^{tm269628(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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