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Gene: Agrn MGI:87961

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, ... ORPHA:98914
Myasthenic Syndrome, Congenital, 8
Weakness of facial musculature OMIM:615120

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... ORPHA:219
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Quadriceps muscle wea... ORPHA:482601
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Impaired vibratory... ORPHA:320370
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy, Difficulty walking, Prolonged central motor conducti... OMIM:616282
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Optic atrophy, Knee... OMIM:615043
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Difficulty walking, Distal upper limb amyotro... ORPHA:603
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Impair... OMIM:612335
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Tremor, Spinal muscular atrophy, Dis... OMIM:615048
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Lower limb pain, Knee flexion contract... ORPHA:401785
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Shoulder girdl... ORPHA:45448
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal... ORPHA:357043
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon... OMIM:615681
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Loss of ambulation, Proximal ... OMIM:182980
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Hand tremor, Hand muscle weakness, Distal lower limb amyotrophy, Intrins... OMIM:300905
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Gait disturbance, Clonu... OMIM:615686
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... OMIM:619216
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal amyotrophy, Upper limb muscle weakness, Babinski sign, Hypertonia, Hammertoe, Impaired vib... OMIM:182960
Spastic Paraplegia 77, Autosomal Recessive
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... OMIM:617046
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Somatic sensory dysfunction, Hand muscle atrophy, Loss of ambu... OMIM:615658
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Spinocerebellar Ataxia 43
Distal amyotrophy, Limb ataxia, Gait ataxia, Lower limb pain, Tremor, Rigidity, Distal sensory im... OMIM:617018
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... OMIM:610250
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Difficulty walking, Distal lower limb amyotrophy, Decreased compound muscle action potential ampl... OMIM:619112
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Autosomal Spastic Paraplegia Type 30
Distal amyotrophy, Leg muscle stiffness, Progressive spastic paraplegia, Somatic sensory dysfunct... ORPHA:101010
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign OMIM:612539
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Hand muscle weakness, Incoo... OMIM:302800
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ... ORPHA:99014
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Difficulty walking, Impaired vibration sensation in the lower limbs, D... ORPHA:399081
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Decreased motor nerve conduction velocity, Hyporeflexia of upper limbs, Fasciculation... OMIM:606595
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... ORPHA:101077
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Impaired pain sensation, C... OMIM:618511
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... OMIM:500002
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Fasciculations, Difficulty... OMIM:615575
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Low... OMIM:600361
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:601472
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy, Myoclonus, Progressive gait ataxia, Intention tremor, Progressive cerebel... ORPHA:2589
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Decreased movem... OMIM:609115
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... ORPHA:100985
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Abnormality of the hand, Spastic gait, Sl... OMIM:160120
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Hand musc... OMIM:616280
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Difficulty walking, Distal lower limb muscl... OMIM:615025
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Impaired pain sensation, Lower limb muscle weakness, Impaired temperature sensation, Limb fascicu... ORPHA:99940
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... ORPHA:488594
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Arthrogryposis, Distal, Type 10
Tip-toe gait, Camptodactyly of finger, Elbow flexion contracture, Hamstring contractures, Wrist f... OMIM:187370
Roussy-Lévy Syndrome
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Somatic sensory dysfunc... ORPHA:3115
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Impaired vibratory sensation, Weakness of orbicularis oculi muscl... ORPHA:2596
Autosomal Recessive Spastic Paraplegia Type 45
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Knee flexion contracture, Babinski ... ORPHA:320396
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia OMIM:545000
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Postural tremor, Ab... ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Distal sensory impairment, Steppage gait, Gait disturbance, Hammertoe OMIM:616625
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Congenital contracture, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Arthrogryposis mu... OMIM:208100
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Abnormal pelvic girdle bone morphology, Pelvic g... OMIM:167320
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Autosomal Recessive Spastic Paraplegia Type 63
Scissor gait, Spasticity, Skeletal muscle atrophy, Hypertonia ORPHA:401805
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Merrf
Optic atrophy, Ragged-red muscle fibers, Myopathy, Multiple lipomas, Ataxia ORPHA:551
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Joint stiffness, Rigidity, Hyperkinetic movements, Torticollis, Dy... ORPHA:98810
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Impaired vibratory sensation, Up... OMIM:616924
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Skeletal muscle atrophy, Fasciculations ORPHA:85162
Spinal Muscular Atrophy With Microcephaly And Impaired Intellectual Development
Proximal spinal muscular atrophy OMIM:271110
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia... OMIM:607317
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Babinski sign, Talipes equinovarus, L... OMIM:613162
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... ORPHA:401820
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... OMIM:616668
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal upper limb muscle weakness, Impaired distal vibration sensation, Distal... OMIM:619519
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Abnormal motor nerve conduction veloci... OMIM:158580
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations... OMIM:615157
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abn... ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Ulnar claw, Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impair... OMIM:607684
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, A... OMIM:620323
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Lower limb muscle weakness, Difficulty walking, Tibialis anter... OMIM:615035
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Skeletal muscle atrophy, Limited hip movement, ... ORPHA:100988
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Distal sensory impairment, In... ORPHA:399086
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Akinesia, Myoclonus, Tremor, Rigidity, Dyst... OMIM:606693
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Dysequilibrium Syndrome
Gait disturbance, Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Impaired distal vibration sensation OMIM:618036
Arthrogryposis, Distal, Type 1B
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Distal arthrogryposis... OMIM:614335
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness, Tremor, Dysmetria, Babinski sign, Progressive gait... OMIM:607458
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures OMIM:611369
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Impaired propri... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal sensory impairment, Unsteady gait, Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Developmental And Epileptic Encephalopathy 69
Congenital contracture, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Arthrogry... OMIM:618285
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraparesis, Foot dorsiflexor weakness, Spi... ORPHA:496756
Leber Hereditary Optic Neuropathy
Optic atrophy, Postural tremor, Myopathy, Ataxia ORPHA:104
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Impaired pain sensation, Hand tremor, Difficulty walking, Decreased compound m... OMIM:618279
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron... OMIM:105550
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Talipes equinovarus, Gait disturbance OMIM:615683
Spinocerebellar Ataxia Type 43
Distal amyotrophy, Distal upper limb muscle weakness, Limb ataxia, Cogwheel rigidity, Foot dorsif... ORPHA:497764
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... ORPHA:247604
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... OMIM:616688
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakne... ORPHA:139536
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraparesis, Clinodactyly, Lower limb muscle weakness, Difficulty walking, Short foot, Sp... OMIM:275900
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dysmetria... OMIM:312920
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Tremor,... ORPHA:65684
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... OMIM:253550
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Palmoplantar hyperkeratosis, Tremor OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Optic atrophy, Inability to walk, Distal lower limb amyotrophy, A... ORPHA:431329
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Distal amyotrophy, Calf muscle hypertrophy OMIM:618135
Gemignani Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia ORPHA:2074
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal lower limb muscle weakness, Interosseus muscle atrophy, Distal amyotrophy, Spinal muscular... OMIM:607088
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... OMIM:118300
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Skeletal muscle atrophy, Fasciculations, Decreased nerve conduction velocity, Rigidit... OMIM:183050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... ORPHA:435387
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Impaired vibration sensation in the... ORPHA:251282
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... ORPHA:496689
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal lower limb amyotrophy, Distal... ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Foot o... OMIM:600882
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... OMIM:611302
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Dysmetria, Gait ataxia, Tremo... OMIM:618387
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... ORPHA:101076
Pyknoachondrogenesis
Stillbirth OMIM:265880
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Difficulty walking, Ragged-red muscle fibers, Myopathy, Babinski sign, Ataxia OMIM:618242
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Limited interphalan... ORPHA:99948
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Lower limb muscle weakness, Difficulty walking, Decreased nerve conduction velocity,... ORPHA:352675
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... OMIM:610099
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... OMIM:610687
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Decreased nerve conduc... ORPHA:329478
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Ragged-red muscle... OMIM:500003
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Partington Syndrome
Focal dystonia, Limb dystonia, Lower limb spasticity, Camptodactyly, Flexion contracture OMIM:309510
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Myoclonus, Lingual dystonia, Torticollis, Writer's cramp, Tors... OMIM:602629
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Upper limb pain, Paresis of extensor muscles of the big toe, Poor fine... ORPHA:99947
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:607678
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Waddl... OMIM:609524
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Decreased motor nerve conduction velocity OMIM:605589
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Limb myoclonus, Myoclonus, Torticollis, Writer's cramp, Dystonia ORPHA:36899
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness, Distal sensory impairment, Ne... OMIM:137200
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Decreased compound muscle action potential amplitude, Multiple joint contr... OMIM:301830
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Ulnar claw, Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness... OMIM:607706
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Caribbean Parkinsonism
Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata... ORPHA:97355
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... ORPHA:101078
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Paresthesia, Cogwheel ... ORPHA:254886
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babinski sign, Lower lim... OMIM:610357
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Difficulty w... OMIM:159950
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Difficulty walking, Gait... OMIM:616907
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Lower limb muscle weakness, Incoordination, Babinski sig... OMIM:248900
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Myopathy, Tremor, Dystonia, Dysdiadochokinesis,... ORPHA:254881
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Abnormality of the Achi... ORPHA:98763
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... ORPHA:444099
Rigid Spine Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop... ORPHA:97244
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Foot ... OMIM:614436
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Tetraparesis, Inability to walk, Type... OMIM:618276
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, D... OMIM:613287
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Distal sensory impairment, Impaired ... ORPHA:101097
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Abnormal exte... OMIM:205100
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Fasciculations OMIM:271200
Spastic Paraplegia 85, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Impaired vibratory sensation, Optic atrophy, Lower lim... OMIM:619686
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... OMIM:613672
Autosomal Recessive Spastic Paraplegia Type 74
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Distal lowe... ORPHA:468661
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy OMIM:212160
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude, Myopathy, Joint hypermobility, Flexion cont... OMIM:618323
Hyperekplexia 4
Umbilical hernia, Myoclonus, Inguinal hernia, Talipes equinovarus, Distal arthrogryposis, Adducte... OMIM:618011
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Dystonia, Clumsiness, Paraparesis, Lo... OMIM:617854
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Upper limb muscle weakness, Lower limb ... OMIM:270800
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia ORPHA:2815
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Atrophic scars, Myopathy, Scapular winging, Flexi... OMIM:616471
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Distal upper limb muscle weakness, Decreased amplitude of sensory action ... ORPHA:90103
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Myopathy, Distal, With Anterior Tibial Onset
Loss of ambulation, Myopathy OMIM:606768
Cerebellar Ataxia, Cayman Type
Broad-based gait, Skeletal muscle atrophy, Gait ataxia, Dystonia, Ataxia, Truncal ataxia, Bradyki... OMIM:601238
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Osteopenia, Type 1 muscle fiber predominance, Wea... OMIM:620161
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Distal lower limb amyotrophy, Rigidity... ORPHA:100984
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Paralysis, Talipes equino... OMIM:613710
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Neurodegeneration With Brain Iron Accumulation 6
Distal amyotrophy, Spastic paraparesis, Tip-toe gait, Rigidity, Dystonia, Gait disturbance, Oroma... OMIM:615643
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Epilepsy, Progressive Myoclonic, 9
Short thumb, Gait ataxia, Myoclonus, Action myoclonus, Frequent falls, Generalized amyotrophy OMIM:616540
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson... ORPHA:521406
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:302801
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Lower limb pain, Abnormality of peripheral nerve conduction, Upper limb pain,... ORPHA:101005
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations OMIM:608030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Spinal Muscular Atrophy With Impaired Intellectual Development
Spinal muscular atrophy OMIM:271109
Masa Syndrome
Spastic paraplegia, Hand clenching, Camptodactyly of finger, Hemiplegia/hemiparesis, Gait disturb... ORPHA:2466
Charcot-Marie-Tooth Disease Type 4D
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Somatic sensory dys... ORPHA:99950
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Head tremor, Positive Romberg sign, Hand muscle atrophy,... ORPHA:101085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Distal amyotrophy, Head tremor, Impaired vibration sensation in the lower limbs, Gait... ORPHA:352641
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Difficulty walking, Type 1 muscle fiber predominance, Ragge... ORPHA:353327
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Wahab Syndrome
Short thumb, Clinodactyly, Ankylosis, Adducted thumb, Camptodactyly, Short foot, Short metacarpal... OMIM:615170
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Reduced arm span, Arthralgia of the hip, Abnormality o... ORPHA:166002
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Distal amyotrophy, Lower limb muscle weakness, Myoclonus, Dysmet... OMIM:614487
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Joint sti... ORPHA:209335
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... OMIM:600363
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy,... OMIM:617207
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Lower limb muscle weakne... OMIM:613647
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Myopathy, Dystonia, Flexion contracture, Spastic tetraplegia OMIM:618237
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Tremor, Ataxia OMIM:619099
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Decreased motor nerve conduction velocity, Gait at... OMIM:180800
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Gait ... ORPHA:424107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Distal arthrogryposis, Vocal cord ... OMIM:616287
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Spasticity, Skeletal m... ORPHA:559
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Limb ataxia, Gait ataxia, Paresthes... OMIM:616719
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Epilepsy, Progressive Myoclonic, 11
Giant somatosensory evoked potentials, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Spasticity, Falls, Lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Bab... OMIM:617882
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Congenital Myopathy 16
Tongue tremor, Postural tremor, Scapular winging, Flexion contracture, EMG: myopathic abnormalities OMIM:618524
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Imp... ORPHA:139578
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Chorea, Muscle fiber atro... ORPHA:369840
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Spastic paraplegia, Impaired vibratory sensation, Skelet... OMIM:620538
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Slender finger, Hip dislocation, Increased endomy... ORPHA:75840
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Upper limb muscle weakness, Lower limb muscle weakness, Tetraparesis, ... ORPHA:225154
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal lower limb ... OMIM:600175
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait di... ORPHA:363710
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Myoclonus, Babinski sign, Increased intramyocellu... OMIM:619065
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Spastic Ataxia 9, Autosomal Recessive
Spasticity, Distal amyotrophy, Delayed skeletal maturation, Dysmetria, Hoffmann sign, Babinski si... OMIM:618438
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Hand clenching, Limb muscle weakness, Muscle fibe... OMIM:256030
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... ORPHA:397744
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... OMIM:611067
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Limb ataxia, Foot dorsiflexor weakness, Dysmetria, Intention tremor... ORPHA:1175
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Leg muscle s... ORPHA:391411
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Tongue fasciculations, Skeletal muscle atrophy, Interphalangeal joint ... ORPHA:1145
Autosomal Spastic Paraplegia Type 18
Ankle flexion contracture, Spasticity, Hand tremor, Elbow flexion contracture, Inability to walk,... ORPHA:209951
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Optic atrophy, Abnormal auditory evok... OMIM:125250
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly OMIM:610140
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Optic atrophy, Flexion contracture of toe, Camptodactyly of finger, Gait ataxia, Slurred speech OMIM:619323
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Ragged-red muscle fibers, ... OMIM:300816
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D... OMIM:609284
Autosomal Spastic Paraplegia Type 58
Spasticity, Distal amyotrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... ORPHA:397946
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Multiple joint contractures, Abnormal muscle fiber myotili... ORPHA:98911
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre... ORPHA:2590
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Distal lower limb amyotrophy, Dysmetria, Loss of ... OMIM:616680
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb ... OMIM:619028
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Facial dipleg... OMIM:609285
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Decreased motor... OMIM:614895
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe, Short thumb OMIM:618453
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Arthrogryposis, Distal, Type 2B2
Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ... OMIM:618435
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic movements, Gait disturba... OMIM:616981
Myopathy, Myofibrillar, 6
Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion... OMIM:612954
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:601098
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... ORPHA:370980
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Skeletal muscle atrophy, Spinal muscular atrophy, Joint contracture, Spast... OMIM:616081
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Tetraparesis, Generalized lipodystrophy, Myoclonus, Gait ata... ORPHA:363400
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Spasticity, Somatic sensory dysfunction, Generalized limb muscle atrophy, Paresthe... ORPHA:466794
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Distal amyotrophy, Spastic paraparesis, Lower limb muscle weakness, Myoclonus, Dysmet... ORPHA:313772
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Scapular... ORPHA:267
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Talipes ... OMIM:617087
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Distal amyotrophy, Congenital contracture, Hand tremor, Fasciculations, Li... OMIM:607596
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100999
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Proximal amyotrophy, Gait disturbance, Te... OMIM:604484
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ... OMIM:613608
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Ulnar claw, Distal amyotrophy, Foot dorsiflexor weakness, Decreased distal sensory nerve action p... OMIM:618400
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... OMIM:600334
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Tetraparesis, Impaired vibration sensation in the lower limbs, Hand muscle atrophy, Loss of ambul... ORPHA:324442
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Dystonia 12
Tremor, Dystonia, Parkinsonism, Unsteady gait, Torticollis, Hypomimic face, Bradykinesia OMIM:128235
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:401815
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotr... OMIM:604286
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Skeletal muscle atrophy, Dystonia, Upper motor neuron dysfunction, Bra... OMIM:500001
Dystonia 16
Postural tremor, Lower limb pain, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticoll... ORPHA:210571
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Combined Saposin Deficiency
Optic atrophy, Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign OMIM:611721
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... OMIM:619574
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Multiple joint contractures, Myopathy, Gait disturbance, Limb-girdle muscle w... ORPHA:352470
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... ORPHA:401768
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Facial myokymia, Axial dystonia, Parkinsonism, Dysdiadocho... OMIM:604326
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
X-Linked Immunoneurologic Disorder
Hypertonia, Hemiplegia/hemiparesis, Myopathy ORPHA:2571
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ataxia OMIM:613402
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... OMIM:615376
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Skeletal muscle atrophy, Limb myoclonus, Hand tremor, Fasciculations, Diff... ORPHA:276198
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Distal upper limb muscle weakness, Difficulty ... OMIM:500013
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:605253
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased amplitude of sensory action potentials OMIM:608673
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Tremor, Hemiparesis OMIM:141500
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... ORPHA:300605
Corpus Callosum, Agenesis Of
Camptodactyly, Joint contracture of the hand OMIM:217990
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Decreased motor nerve conduction velocity, Steppage gait, Impaired distal tact... OMIM:610100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... OMIM:620011
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Skeletal muscle atrophy, Camptodactyly of finger, Multiple lipomas,... ORPHA:3294
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Lower limb muscle weakness, Somatic sensory dysfunction, Inability to... ORPHA:90117
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Tongue fasciculations, Camptodactyly of finger, A... OMIM:614399
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Difficulty walking, Inability to walk,... ORPHA:330050
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Tongue fasciculations, Z-band stre... OMIM:618823
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Inguinal hernia, Dysmetria, Distal lower limb muscle weakness, Fiber ... OMIM:619903
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Dystonia, Hypertonia, Myopathy ORPHA:26792
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Broad-based gait, Skeletal muscle atrophy, Impaired... OMIM:609033
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118210
Leber Optic Atrophy
Optic atrophy, Postural tremor, Myopathy, Ataxia, Dystonia, Optic neuropathy OMIM:535000
Spastic Paraplegia 79B, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Optic atrophy, Tetraparesis, Fasciculations, Po... OMIM:615491
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Increased connect... OMIM:611307
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Dystonia ORPHA:324588
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, P... ORPHA:216873
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Acetyl-Coa Carboxylase-Alpha Deficiency
Myopathy OMIM:613933
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic paraplegia, Tongue fasciculations, Bone pain, Limb fasciculations, Babinski sign, Gait di... ORPHA:329475
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Spontaneous pain sensation, Decreased motor nerve conduction velocity, P... ORPHA:101081
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Congenital Muscular Dystrophy Due To Lmna Mutation
Limitation of joint mobility, Skeletal muscle atrophy, Myopathy, Joint hypermobility, Gait distur... ORPHA:157973
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Tip-toe gait, Should... OMIM:606612
Autosomal Recessive Spastic Paraplegia Type 48
Broad-based gait, Progressive spastic paraplegia, Lower limb muscle weakness, Myoclonus, Parkinso... ORPHA:306511
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Hereditary Geniospasm
Chin myoclonus, Abnormality of mentalis muscle ORPHA:53372
Behr Syndrome
Optic atrophy, Frequent falls, Hamstring contractures, Dysmetria, Tremor, Babinski sign, Achilles... OMIM:210000
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... OMIM:615528
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem... OMIM:300423
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should... ORPHA:98856
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Limb myoclonus, Somatic sensory dysfunction, Postural tremor,... OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 10
Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor OMIM:613728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Babinski sign, Calf... OMIM:608840
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Joint hypermobility, Hyperkinetic movements, Ataxia, Dy... OMIM:618218
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Somatic sensory dysfun... ORPHA:99939
Lethal Congenital Contracture Syndrome 11
Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finger, Camptodactyly, B... OMIM:617194
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Distal amyotrophy, Upper limb muscle weakness, Distal sensory impairment OMIM:607677
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hand t... OMIM:162400
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Upper limb muscle weakness, Lower limb muscle w... OMIM:609195
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Myositis, Clumsiness, Proxima... OMIM:253600
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vi... ORPHA:320406
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Somatic sens... ORPHA:454887
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Tremor, Spastic tetraparesis OMIM:619470
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment OMIM:607731
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Impaired temperature sensation, Impaired tactile sen... ORPHA:2199
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordinatio... ORPHA:43
Neuropathy, Congenital, With Arthrogryposis Multiplex
Spasticity, Distal amyotrophy, Broad-based gait, Babinski sign, Calcaneovalgus deformity, Arthrog... OMIM:162370
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, Myoclonus, Tremor OMIM:615127
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Chromosome 20Q11-Q12 Deletion Syndrome
Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly OMIM:614257
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Difficulty walking, Chorea, Myopathy, Hyperkinetic movements, Tru... ORPHA:369847
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Difficulty walking, Limited hip movement, Positive Romberg sign, Distal se... ORPHA:206594
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Adrenoleukodystrophy
Spastic paraplegia, Lower limb muscle weakness, Incoordination, Limb ataxia, Paraparesis, Truncal... OMIM:300100
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Involuntary movements, Tongue fasciculations, Ske... ORPHA:238329
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, Optic atrophy, Myoclonus, Knee flexion contracture OMIM:619303
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Unsteady gait, Dystonia, Generalized amyotrophy OMIM:203740
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Truncal ataxia, Choreoathetosis OMIM:616230
Bethlem Muscular Dystrophy
Difficulty walking, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps mu... ORPHA:610
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Writer's ... OMIM:608105
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Dysto... OMIM:606703
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Optic atrophy, Leg muscle stiffness, Generalized limb muscle atrop... ORPHA:137898
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... OMIM:608340
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo... OMIM:618049
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park... OMIM:258450
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Amyotrophic Lateral Sclerosis 1
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Fasci... OMIM:105400
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Acroparesthesia, Fasciculations, Incoordination, Abnormality of extrapyr... ORPHA:309162
Central Core Disease
Nemaline bodies, Congenital hip dislocation, Type 1 muscle fiber predominance, Multiple joint con... ORPHA:597
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Tip-toe gait, Lower limb muscle weakness, Impaired v... OMIM:604360
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidi... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Distal amyotrophy, Decreased motor nerve conduction velocity, Tremor OMIM:607734
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski s... OMIM:609541
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Impai... ORPHA:99953
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle... ORPHA:98755
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Neck joint contracture OMIM:255600
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Distal sensory impai... OMIM:616505
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Legg-Calvé-Perthes Disease
Avascular necrosis, Skeletal muscle atrophy, Delayed skeletal maturation ORPHA:2380
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy OMIM:160570
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Distal amyotrophy OMIM:182815
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Quadric... OMIM:620285
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis ORPHA:27
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Poliomyelitis
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... ORPHA:2912
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Spasticity, Involuntary movements, Chorea, Myoclonus, Rigidity, Los... OMIM:617282
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Tetraparesis, Increased connectiv... OMIM:616827
Spastic Paraplegia 16, X-Linked
Spastic paraplegia, Short distal phalanx of finger, Shuffling gait, Lower limb muscle weakness, B... OMIM:300266
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,... ORPHA:206443
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Spasticity, Distal amyotrophy, Decreased nerve conduction velocity, Dysmetria, Dis... OMIM:612674
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne... ORPHA:320375
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresth... ORPHA:682
Duane Anomaly-Myopathy-Scoliosis Syndrome
Delayed skeletal maturation, Myopathy ORPHA:50817
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Frequent falls, Type 1 muscle fiber predominance, Limb muscle weakness, Rigidity... OMIM:161800
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... ORPHA:98762
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture, Paralysis, Distal arthrogryposis OMIM:616286
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Developmental And Epileptic Encephalopathy 92
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Ataxia, Dystonia OMIM:617829
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Spasticity, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, D... OMIM:252011
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Spasticity, Spastic paraparesis, Tip-toe gait, Gait ataxia, Dysmetria, Rigidity, A... OMIM:614877
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Pseudobulbar paralysis, Foot dorsiflexor... OMIM:616586
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Allan-Herndon-Dudley Syndrome
Spastic paraplegia, Inability to walk, Babinski sign, Hallux valgus, Clonus, Ataxia, Flexion cont... OMIM:300523
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal lo... ORPHA:94124
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Fasciculations, Postural tremor, Lim... OMIM:183090
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Lower limb muscle weakness, Fasciculations, Generalized limb muscle atrophy, Impaired vibration s... ORPHA:521411
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Hand tremor, Lower limb muscle weakness, Head t... OMIM:614409
20Q11.2 Microdeletion Syndrome
Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly ORPHA:444051
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spastic paraparesis, Knee flexion contrac... ORPHA:3208
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Rigidity, Gait disturbance, Ataxia, Dystonia OMIM:618239
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... ORPHA:466768
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Tongue fasciculations, Proximal amyotrophy, Spinal muscu... OMIM:253300
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Optic atrophy, Myopathy, Absent brainstem auditory responses, Limb-girdle mus... ORPHA:1215
Isaacs Syndrome
Calf muscle hypertrophy, Distal sensory impairment, Fasciculations ORPHA:84142
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Distal lowe... ORPHA:459033
Arthrogryposis, Distal, Type 1A
Hand clenching, Joint contracture of the hand, Absent distal interphalangeal creases, Congenital ... OMIM:108120
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Bab... OMIM:610245
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability ... OMIM:618184
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreo... ORPHA:391417
Coenzyme Q10 Deficiency, Primary, 4
Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnormal pyramidal sign, I... OMIM:612016
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Limb dystonia, Tremor, Accelerated skeletal maturation, Bilateral coxa valga OMIM:620270
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Decreased motor nerve conduction velo... OMIM:608804
Nemaline Myopathy 8
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy OMIM:615348
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia ORPHA:33574
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Abnormal tibia morphology,... ORPHA:909
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Muscular dystrophy, Camptodactyly of finger, Myopathy, Gait disturbance, Hypoglyco... ORPHA:272
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Hyp... ORPHA:71517
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:868
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, Hemiplegia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, ... ORPHA:352596
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... ORPHA:314978
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Atrophic scars, Myopathy, Joint hypermobility, Hernia ORPHA:300179
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Generalized amyotrophy, Somatic sensory dysfunction, Lower limb mu... ORPHA:1177
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Difficulty walki... OMIM:611890
Fetal Akinesia Deformation Sequence 4
Camptodactyly, Arthrogryposis multiplex congenita, Rocker bottom foot, Skeletal muscle atrophy OMIM:618393
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis OMIM:617892
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Broad-based gait, Clino... OMIM:181405
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Pseudobulbar paralysis, Babinski sign, Lower limb spasticity, Gait distu... ORPHA:101006
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Small hand, Optic atrophy, Upper limb undergrowth,... OMIM:608799
Dystonia 15, Myoclonic
Dystonia, Myoclonus, Writer's cramp OMIM:607488
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet... ORPHA:506353
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia OMIM:615362
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Delayed skeletal maturation, Ragged-red muscle fibers, Hemiplegia/hemipa... ORPHA:480
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Step... OMIM:606483
Adult-Onset Cervical Dystonia, Dyt23 Type
Neck muscle hypertrophy, Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial... ORPHA:420492
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Internally rotated shoulders, Knee flexion ... OMIM:617468
Hypophosphatasia, Childhood
Craniosynostosis, Waddling gait, Myopathy, Bowing of the legs OMIM:241510
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Gait... ORPHA:96
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor OMIM:601068
Mitochondrial Complex I Deficiency, Nuclear Type 31
Myoclonus, Skeletal muscle atrophy, Dysmetria OMIM:618251
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Autosomal Recessive Spastic Paraplegia Type 15
Spastic paraplegia, Spasticity, Distal amyotrophy, Impaired vibratory sensation, Upper limb muscl... ORPHA:100996
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Facial diplegia, Type 1 muscle fibe... ORPHA:171433
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Ataxia-Deafness-Intellectual Disability Syndrome
Joint hypermobility, Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1188
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Difficulty walking, Gait ataxia, Foo... ORPHA:98
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Myopathy, Gait disturbance, Macroglossia, Skeletal muscle hypertrophy ORPHA:2349
Martsolf Syndrome 2
Camptodactyly, Overlapping toe, Spastic diplegia, Camptodactyly of finger OMIM:619420
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Abnormal pelvic girdle bone morphology, Resting... OMIM:601162
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Spastic dysarthria, Myoclonus, Babinski sign, Left ventricular hypertrophy, Loss o... ORPHA:401866
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Shoulder girdle muscle weakness, Myopathy, Gait disturbance, Pelvic girdle muscle weakness... OMIM:615156
Multifocal Motor Neuropathy
Fasciculations, Limb muscle weakness, Limited wrist extension, Motor conduction block, Weakness o... ORPHA:641
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Small hand, Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal a... OMIM:610185
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Brody Disease
Flexion contracture, Fasciculations, Somatic sensory dysfunction, Skeletal muscle hypertrophy OMIM:601003
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysmet... ORPHA:48431
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Talipes equinovarus, Hallux valgus, Adducted thumb, Ulnar deviation of the h... OMIM:618436
X-Linked Intellectual Disability, Hedera Type
Hyporeflexia of upper limbs, Extrapyramidal muscular rigidity, Inability to walk, Action tremor, ... ORPHA:93952
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Tetraparesis, Antalgic gait, Tremor OMIM:620546
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Tongue fasciculations, Broad-based gait, Distal amyotrophy, Sensory ataxia, Decreased... OMIM:145900
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Tituba... ORPHA:98771
Spastic Ataxia, Charlevoix-Saguenay Type
Peroneal muscle atrophy, Spasticity, Distal amyotrophy, Falls, Decreased motor nerve conduction v... OMIM:270550
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Dista... OMIM:607250
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress... OMIM:607346
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficulty walking, Positi... OMIM:616479
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Optic atrophy, Skeletal muscle atrophy, Myopathy, Weakness of fac... ORPHA:98673
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Leg muscle stiffness, Fasciculations, Limb ataxia, Dysmetria, Ankl... ORPHA:284289
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Weakness of facial musculature OMIM:618637
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Lower limb spasticity, Spastic gait, Lower ... ORPHA:320355
Spinocerebellar Ataxia 50
Froment sign, Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia OMIM:620158
Spinocerebellar Ataxia 17
Broad-based gait, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, Pos... OMIM:607136
Spastic Tetraplegia And Axial Hypotonia, Progressive
Fasciculations, Overlapping toe, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb... OMIM:618598
Arthrogryposis, Distal, Type 11
Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore... OMIM:620019
Perching Syndrome
Camptodactyly, Joint contracture OMIM:617055
Hypermanganesemia With Dystonia 2
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Limb dystonia, Tremor, Ankle c... OMIM:617013
Ceroid Lipofuscinosis, Neuronal, 5
Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochokinesis OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Myoclonus, Ataxia OMIM:600143
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic ... ORPHA:329284
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore... OMIM:164400
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
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... ORPHA:100993
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Impaired vibration sensation in the lower limbs, Distal amyotrophy, Distal sensory impairment ORPHA:639
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Osteomyelitis, Impaired vibration sensation in the lower limbs, Abnormal sens... ORPHA:88628
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Falls, Resting tremor, Gait ataxia, Distal sens... OMIM:617225
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Myoclonus, Limb muscle weakness, Tremor, Abnormal cranial nerve morpholo... ORPHA:97229
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Myoclonus, Familial, 2
Dystonia, Limb myoclonus OMIM:618364
Autosomal Recessive Spastic Paraplegia Type 75
Spastic paraplegia, Spasticity, Impaired vibratory sensation, Distal lower limb amyotrophy, Dysme... ORPHA:459056
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Dystonia OMIM:615338
Spinocerebellar Ataxia Type 2
Fasciculations, Chorea, Postural tremor, Gait ataxia, Dystonia, Parkinsonism, Kinetic tremor, Pro... ORPHA:98756
Malignant Hyperthermia, Susceptibility To, 3
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154276
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Dystonia, Progressive cere... ORPHA:139485
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Small hand, Tremor, Waddling gait OMIM:616269
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Skeletal muscle atrophy, Ataxia OMIM:616684
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Distal upper limb muscle weakness, Generalized dystonia, Inability to walk, Distal up... OMIM:619653
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Facial-lingual fasciculations, Fasci... OMIM:109150
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Inten... OMIM:215470
Autosomal Recessive Spastic Paraplegia Type 11
Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle atrophy, Inability to walk... ORPHA:2822
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... ORPHA:119
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... OMIM:164500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Limb muscle weakness, Tremor, Fasciculations OMIM:313200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Areflexia of upper limbs, Ataxia, Dysdiadocho... OMIM:616291
Ataxia-Telangiectasia-Like Disorder 1
Distal amyotrophy, Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Unsteady gait, Lower limb ... OMIM:604391
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, F... ORPHA:52430
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Dyst... OMIM:614254
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Inguinal hernia, Talipes equinovarus, S... OMIM:211960
Arthrogryposis, Distal, Type 4
Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes... OMIM:609128
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Skeletal muscle atrophy, Inability to walk, Talipes equinovarus, Clonus, Joint con... OMIM:617481
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Lower limb pain... OMIM:612067
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia OMIM:619738
Fried Syndrome
Gait disturbance, Skeletal muscle atrophy, Spastic diplegia ORPHA:85335
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis OMIM:123400
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Spasticity, Myoclonus, Ataxia, Flexion contracture OMIM:256730
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Multiple joint contractures, Dysmetria, Babinski ... ORPHA:504476
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Limb muscle weakness, Rigidity, Babinski sign, Abnormal autonomi... ORPHA:363722
Pontocerebellar Hypoplasia Type 4
Myoclonus, Arthrogryposis multiplex congenita, Hypertonia ORPHA:166063
Spinocerebellar Ataxia 36
Tongue fasciculations, Skeletal muscle atrophy, Fasciculations, Incoordination, Limb ataxia, Gait... OMIM:614153
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Skeletal muscle atrophy OMIM:618244
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Falls, Foot dorsiflexor weakness, Hand muscle atrophy, ... OMIM:618811
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Myoclonus, Abnormality of extrapyramidal motor function OMIM:162350
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Myoclonus, Optic disc pallor, Athetosis OMIM:617235
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Broad-based gait, Positive Romberg sign, Myopathy... OMIM:607459
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Joint hypermobility, Bra... OMIM:301026
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Progressive spastic paraplegia, Distal lower limb muscle weakness, Babinski si... OMIM:612020
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Broad-based gait, Upper limb muscle weakness, Lower limb muscle weakness, Sandal gap, Inability t... OMIM:617146
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Myasthenic Syndrome, Congenital, 24, Presynaptic
Knee flexion contracture, Talipes equinovarus, Distal arthrogryposis, Oculomotor apraxia, Camptod... OMIM:618198
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Dystonia, Skeletal muscle atrophy, Choreoathetosis OMIM:614932
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis OMIM:618497
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Spastic gait, Small hand, Resting tremor, Shuffling gait... OMIM:300055
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Muscle-Eye-Brain Disease
Optic atrophy, Hemiplegia/hemiparesis, Myopathy, Gait disturbance, Hypertonia ORPHA:588
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Flexion contracture, Athetosis OMIM:617106
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Rhabdomyolysis, Myopathy, Ataxia ORPHA:713
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Isolated Glycerol Kinase Deficiency
Osteoporosis, Myopathy ORPHA:408
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Hip dislocation, Genu valgum, Fa... ORPHA:171436
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
L1 Syndrome
Spasticity, Skeletal muscle atrophy, Hemiplegia/hemiparesis, Aganglionic megacolon, Gait disturba... ORPHA:275543
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... OMIM:158900
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Hip dislocation, Talipes equinovarus, Apraxia, Oculomotor apraxia,... OMIM:314580
Spinocerebellar Ataxia, Autosomal Recessive 20
Spasticity, Clinodactyly, Inability to walk, Babinski sign, Apraxia, Talipes equinovarus, Brachyd... OMIM:616354
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Autosomal Recessive Spastic Paraplegia Type 5A
Spastic paraplegia, Upper limb spasticity, Impaired vibratory sensation, Upper limb muscle weakne... ORPHA:100986
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spasticity, Broad-based gait, Acropar... ORPHA:206448
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Chorea, Hyperkinetic movements, Dystonia, Athetosis OMIM:617493
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Thyrocerebroretinal Syndrome
Myoclonus, Skeletal muscle atrophy, Slurred speech, Ataxia OMIM:274240
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Rigidity, Dystonia, ... ORPHA:289560
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy, Hemiparesis OMIM:540000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Tetraparesis, Bone pain, Sclerosis of skull base, Femoral bowing, In... OMIM:602080
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal nerve conduct... ORPHA:2926
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Loss of a... OMIM:208920
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Skeletal muscle atrophy, Lower limb muscl... ORPHA:88644
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Loss of abili... OMIM:609560
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Schindler Disease, Type I
Optic atrophy, Spasticity, Osteopenia, Myoclonus, Generalized amyotrophy OMIM:609241
Siddiqi Syndrome
Flexion contracture, Limb dystonia, Lower limb amyotrophy OMIM:618635
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foo... OMIM:604563
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Skeletal muscle atrophy, Inability to walk, Decreased nerv... ORPHA:457205
Developmental And Epileptic Encephalopathy 40
Spasticity, Myoclonus, Choreoathetosis, Spastic tetraparesis OMIM:617065
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Osteopenia, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia OMIM:617810
Brown-Vialetto-Van Laere Syndrome 2
Tongue fasciculations, Optic atrophy, Limb muscle weakness, Clumsiness, Split hand, Ataxia, Facia... OMIM:614707
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, F... OMIM:118220
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Skeletal muscle atrophy, Myoclonus, Flared iliac wing, Ataxia, Dystonia, ... OMIM:230650
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Inability to walk, Multiple joint contractures, Tremor, Babi... OMIM:128100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability to walk, Decreased ... OMIM:218000
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Fasciculations, Hand muscle weakness, Tremor, Intrinsic hand muscle a... ORPHA:99965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... OMIM:157640
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Difficulty walking, Myopathy, Weakness of facial musculature, Spinal mus... ORPHA:254875
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Ataxia OMIM:300983
Optic Atrophy 11
Increased variability in muscle fiber diameter, Optic atrophy, Facial diplegia, Dysmetria, Hyperk... OMIM:617302
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Small hand, Hand apraxia,... ORPHA:3095
Whistling Face Syndrome, Recessive Form
Ulnar deviation of finger, Shoulder flexion contracture, Elbow flexion contracture, Inguinal hern... OMIM:277720
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Choreoathetosis OMIM:619317
Valinemia
Hyperkinetic movements OMIM:277100
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
Pontocerebellar Hypoplasia Type 1
Tongue fasciculations, Spasticity, Optic atrophy, Skeletal muscle atrophy, Ataxia, Arthrogryposis... ORPHA:2254
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Lower limb muscle weakness, Paresthesia, Gait ataxia, Abnormalit... ORPHA:356
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased ampli... OMIM:256840
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Nonprogressive cerebellar ataxia, Myoclonus, Slurred... ORPHA:3327
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
Mitochondrial Complex I Deficiency, Nuclear Type 12
Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathetosis OMIM:301020
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Difficulty walking, Inability to walk, Reduced muscle fiber alpha... ORPHA:206559
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Unsteady gait, Myoclonic spasms, At... ORPHA:79263
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Involuntary movements, Distal amyotrophy, Loss of ambulation, Babinski sign, Clums... OMIM:271245
Sialidosis Type 2
Skeletal muscle atrophy, Umbilical hernia, Inguinal hernia, Tremor, Ataxia, Osteoporosis, Flexion... ORPHA:87876
Juvenile Huntington Disease
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Ataxia, Bradykinesia, Progr... ORPHA:248111
Charcot-Marie-Tooth Disease, Type 4D
Distal amyotrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw... OMIM:601455
Farber Disease
Spasticity, Skeletal muscle atrophy, Short toe, Short finger, Abnormality of the wrist, Myoclonus... ORPHA:333
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Knee flexion co... OMIM:619110
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait OMIM:213200
Developmental And Epileptic Encephalopathy 68
Spasticity, Myoclonus, Clonus, Exaggerated startle response, Flexion contracture OMIM:618201
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Ataxia OMIM:619191
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Arachnodactyly, Hyperto... OMIM:619092
Congenital Disorder Of Glycosylation, Type In
Spasticity, Myoclonus, Adducted thumb, Ataxia OMIM:612015
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Developmental And Epileptic Encephalopathy 27
Myoclonus, Dystonia, Spasticity, Chorea OMIM:616139
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Proximal amyotrophy, Gait disturbance, Lower limb spasticity, Increased adipose tissue OMIM:617404
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... OMIM:619279
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia OMIM:618093
Amyotrophy, Monomelic
Interosseus muscle atrophy, Upper limb muscle weakness, Fasciculations OMIM:602440
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Impaired vibratory sensation, Decreased nerv... OMIM:238970
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Loss of ambulation, Gait disturbance, Joint contra... OMIM:616516
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal amyotrophy, Calf muscle hypertrophy, Scapular winging OMIM:601287
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Limitation of joint mobility, Oculomotor apraxia, Clinodactyly of the 5th fing... ORPHA:3454
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Tremor, Rigidity, Hypertonia, Ataxia ORPHA:33445
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Difficulty walking, Limited elbow move... OMIM:300280
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Spasticity, Congenital contracture, Hypertonia OMIM:225753
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Single transverse palmar... ORPHA:178148
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy, Ataxia OMIM:300653
Ataxia-Telangiectasia-Like Disorder
Chorea, Myoclonus, Gait ataxia, Dysmetria, Intention tremor, Joint hypermobility, Oculomotor apra... ORPHA:251347
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia, Skeletal muscle atrophy OMIM:105300
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Difficulty walking, Rhabdomyolysis, D... ORPHA:399096
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ... ORPHA:171695
Acute Transverse Myelitis
Impaired vibratory sensation, Spasticity, Upper limb muscle weakness, Somatic sensory dysfunction... ORPHA:139417
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Spasticity, Skeletal muscle atrophy, Gait ataxia, Hyperkinetic movements, Babinski... OMIM:620089
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276244
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Spasticity, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormality of extrapy... ORPHA:79279
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance OMIM:618090
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, F... OMIM:118200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothorax, Abnormal pulmon... ORPHA:70588
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat... OMIM:610978
Neurodegeneration With Brain Iron Accumulation 7
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia OMIM:617916
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Myoclonus, Choreoathetosis, Hyporeflexia of upper limbs OMIM:609056
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Fatty replacement of skeletal m... OMIM:616165
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Myopathy OMIM:618236
Machado-Joseph Disease Type 1
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276241
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, C... ORPHA:561854
Crisponi/Cold-Induced Sweating Syndrome 1
Radial deviation of finger, Elbow flexion contracture, Limited elbow extension, Opisthotonus, Tal... OMIM:272430
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Generalized dystonia, Tremor, Abnormality of extrap... OMIM:614298
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness OMIM:607791
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Lopes-Maciel-Rodan Syndrome
Spasticity, Small hand, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unst... OMIM:617435
Developmental Delay With Variable Neurologic And Brain Abnormalities
Spasticity, Knee flexion contracture, Down-sloping shoulders, Cubitus valgus, Camptodactyly OMIM:619694
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... ORPHA:1159
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Steppage gait, Skeletal muscle atrophy, Limb muscle weakness, Somatic sensory dysfunction OMIM:620378
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Talipes equinovarus, Scapular winging, Waddling gait,... OMIM:255200
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Abnormality of extrapyramidal motor function, Myoclonus, Ataxia OMIM:204300
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Distal amyotrophy, Skeletal muscle... ORPHA:101000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, D... OMIM:617710
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Tay-Sachs Disease
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Inability to walk, Limi... ORPHA:845
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb... ORPHA:254930
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Arachnoid Cyst
Lower limb muscle weakness, Tetraparesis, Inability to walk, Cranial nerve compression, Paresthes... ORPHA:2356
Phenylketonuria
Osteopenia, Lower limb spasticity, Tremor, Ataxia ORPHA:716
Myasthenic Syndrome, Congenital, 12
Waddling gait, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dysmetria, Babinski sign, Hyper... OMIM:618356
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Short toe, Hand tremor, Decreased muscle mass, Patellar hypoplasia, Flexion ... ORPHA:3041
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Myoclonus, Intention tremor, Paroxysmal dystonia, Dystonia, Babin... ORPHA:466722
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Overlapping toe, Delayed skeletal maturation, EMG: myopathic abnormalities, Tremor ORPHA:457365
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Allan-Herndon-Dudley Syndrome
Spasticity, Spastic tetraplegia, Skeletal muscle atrophy, Abnormality of extrapyramidal motor fun... ORPHA:59
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Bilateral Perisylvian Polymicrogyria
Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Facial diplegia, Dysmetria, Weakness of fac... ORPHA:98889
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Left ... OMIM:619040
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Enlarged proximal interphalangeal ... OMIM:186300
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Facial palsy, Waddling gait OMIM:602541
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Rigidity, Gait di... OMIM:603472
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Talipes equinovarus, Athetosis, Spastic tet... OMIM:605013
Gerstmann-Straussler Disease
Spasticity, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Pa... OMIM:137440
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Tremor, Ataxia OMIM:616494
Pontocerebellar Hypoplasia, Type 11
Spasticity, Broad-based gait, Skeletal muscle atrophy, Difficulty walking, Inability to walk, Lim... OMIM:617695
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Eyelid ... OMIM:612953
Ceroid Lipofuscinosis, Neuronal, 2
Myoclonus, Ataxia OMIM:204500
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Myoclonus, Ataxia, Osteoporosis, Erratic myoclonus, Spastic tetraplegia OMIM:619971
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Inability to walk, Myoclonus, Rigidity, Loss of ambulation, Gait disturbance, Athe... OMIM:618241
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities OMIM:609452
Stiff Skin Syndrome
Elbow flexion contracture, Knee flexion contracture, Limited shoulder movement, Lipodystrophy, Ca... OMIM:184900
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic nervo... OMIM:300894
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus ORPHA:139406
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Abnormal cra... ORPHA:247234
Hereditary Hyperekplexia
Spasticity, Fasciculations, Umbilical hernia, Joint stiffness, Myoclonus, Rigidity, Hernia, Hiatu... ORPHA:3197
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Optic atrophy, Spasticity, Decreased muscle mass, Akinesia, Myopathy, Rigidity, Tr... OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Myoclonus, Limb tremor, Hypertonia OMIM:300699
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Gait imbalance, Limb muscle weakness, Limb dysmetria, Weakness of facial... ORPHA:329336
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Dysdiadochokinesis, Somatic sensory dysfunction, ... ORPHA:502423
Spinocerebellar Ataxia 34
Spasticity, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnormal pyramidal sign, ... OMIM:133190
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness ... OMIM:616239
Leukodystrophy, Hypomyelinating, 10
Spasticity, Skeletal muscle atrophy, Inability to walk, Hyperkinetic movements, Babinski sign, Ar... OMIM:616420
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture OMIM:613723
Spinocerebellar Ataxia 13
Optic atrophy, Spasticity, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyramida... OMIM:605259
Spastic Paraplegia 15, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Paraplegia, Babinski sign, Low... OMIM:270700
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Myopathy, Ataxia OMIM:613077
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Hypomimic face, B... ORPHA:70594
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Fractu... OMIM:112250
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Involuntary movements, Spasticity, Difficulty walking, Abnormality of coordination... ORPHA:442835
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Skeletal muscle atrophy, Myopathy, Ataxia ORPHA:42
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Flexio... ORPHA:88630
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Wrist hypermobility, Increase... OMIM:254090
Multiple System Atrophy
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:102
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Myopathy ORPHA:154
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Skeletal muscle atrophy, Inability to walk, Facial diplegia, Hyperkinetic movements, ... OMIM:612073
Spinocerebellar Ataxia Type 13
Optic atrophy, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Torticollis, ... ORPHA:98768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Prune1-Related Neurological Syndrome
Tongue fasciculations, Optic atrophy, Spastic paraparesis, Inability to walk, Clonus, Bilateral t... ORPHA:544469
Rahman Syndrome
Camptodactyly, Talipes equinovarus, Accelerated skeletal maturation, Hypertonia OMIM:617537
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Talipes ... OMIM:607831
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Generalized limb muscle atrophy, Gait ataxia, Babinski sign, Lower limb spast... ORPHA:139480
Continuous Spikes And Waves During Sleep
Hyperkinetic movements, Speech apraxia, Clumsiness, Dystonia ORPHA:725
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga... OMIM:616795
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Appendicular spasticity, Abnormal pyramidal sign, Joint contracture, Lower l... OMIM:260600
Catifa Syndrome
Camptodactyly, Gait disturbance, Inguinal hernia OMIM:618761
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Myopathy, Lipodystrophy OMIM:615980
Richards-Rundle Syndrome
Distal amyotrophy, Joint stiffness, Gait disturbance, Hypertonia, Ataxia, Reduced bone mineral de... ORPHA:1399
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy OMIM:232400
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... OMIM:614831
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Spastic paraparesis, Clinodactyly, Umbilical hernia, Incoordina... ORPHA:369891
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Broad-based gait, Skeletal muscle atrophy, Contractures of the large joints,... OMIM:616716
Dystonia 26, Myoclonic
Blepharospasm, Laryngeal dystonia, Myoclonus, Torticollis, Dystonia OMIM:616398
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal amyotrophy, Distal sensory impairment, Joint hypermob... OMIM:608895
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Myoclonus, Hypertonia OMIM:610090
Mohr-Tranebjaerg Syndrome
Spasticity, Increased susceptibility to fractures, Tremor, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal amyotrophy, Decreased amplitude of sensory action potentials, Inabilit... ORPHA:36386
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Clinodactyly, Inability to walk, Narrow palm, Brachydactyly, Camp... OMIM:615547
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Difficulty walking, Rhab... OMIM:255125
Mepan Syndrome
Optic atrophy, Spasticity, Hemidystonia, Chorea, Myoclonus, Limb dystonia, Axial dystonia, Cranio... ORPHA:508093
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Imagawa-Matsumoto Syndrome
Clinodactyly, Umbilical hernia, Accelerated skeletal maturation, Large hands, Camptodactyly OMIM:618786
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Myoclonus, Babinski sign, Apraxia, Gait disturbance OMIM:618193
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Cutaneous angiolipomas, Bone pain ORPHA:53721
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Madras Motor Neuron Disease
Optic atrophy, Distal amyotrophy, Limb fasciculations, Babinski sign, Facial palsy ORPHA:137867
Spinocerebellar Ataxia Type 27
Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr... ORPHA:98764
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Oculomotor apraxia, Flexion contractu... OMIM:614678
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Distal amyotrophy, Hand tremor, Difficulty walking, Speech apraxia, Head tremor, Postural tremor,... ORPHA:412057
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis OMIM:612438
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Muscle fibe... ORPHA:206569
Developmental And Epileptic Encephalopathy 109
Spasticity, Crouch gait, Gait ataxia, Myoclonus, Left ventricular hypertrophy OMIM:620145
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Tremor, Joint hypermobility, Hyperkinetic movements, Gait disturbance, Hip subluxation OMIM:300957
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, L... ORPHA:93958
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... OMIM:602433
Pontocerebellar Hypoplasia, Type 1D
Tongue fasciculations, Spasticity, Fasciculations, Multiple joint contractures, Adducted thumb, F... OMIM:618065
Neurofibromatosis, Familial Spinal
Paraparesis, Lower limb muscle weakness OMIM:162210
Acquired Partial Lipodystrophy
Lipoatrophy, Myopathy ORPHA:79087
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Skeletal muscle atrophy, Left ventricular hypertrophy, Abnormal pyramidal sign, At... OMIM:618228
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy, Dysmetria OMIM:615578
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Limb myoclonus, Progressive truncal ataxia, Myoclonus, Chin myoclonus, Progressive... ORPHA:263516
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Head tremor, Impaired vibration sensation in the lower limbs, ... ORPHA:95433
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Ga... ORPHA:227510
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Parkinsonism, Spastic paraparesis, Oromandibular dystonia ORPHA:397725
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Mcleod Syndrome
Chorea, Rhabdomyolysis, Myopathy, Areflexia of upper limbs, Dystonia, Impaired vibration sensatio... OMIM:300842
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Cerebral palsy, Spastic tetraparesis, Generalized dystonia, Spastic ataxia, Paraparesis, Dystonia OMIM:620358
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, Flexion contrac... OMIM:616549
Oculodentodigital Dysplasia
Spasticity, Hip dislocation, Clinodactyly, Tetraparesis, 3-4 toe syndactyly, Joint contracture of... OMIM:164200
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Slender finger, Skeletal muscle atrophy, Hyperkinetic movements, Adducted thumb, Ataxia, Truncal ... OMIM:300243
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Skeletal muscle atrophy, Skeletal muscle hypertrophy ORPHA:101082
Weaver Syndrome
Joint contracture of the hand, Spasticity, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Ove... OMIM:277590
Frontonasal Dysplasia 1
Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas... OMIM:136760
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Overlapping toe, Arthrogryposis multiplex congenita, Avascular necrosis of the cap... OMIM:614262
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... ORPHA:98933
Malignant Hyperthermia, Susceptibility To, 2
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... OMIM:154275
Autosomal Recessive Spastic Paraplegia Type 9B
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Postural tremor, Babinski sign, Tetraplegia, S... ORPHA:447760
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Limb muscle weakness, Myopathy, Ataxia, Hypomimic face, Bradykinesia, Quadriceps ... ORPHA:254892
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Osteopenia, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Oculom... ORPHA:529665
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parki... OMIM:204200
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Spasticity, Clinodactyly, Inability to walk, Dysmetria, Ataxia, Camptodactyly, Tap... OMIM:619576
Congenital Myopathy 9A
Tongue fasciculations, Akinesia, EMG: myopathic abnormalities OMIM:618822
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Ulnar deviation of the hand or of fingers of the hand, Arachnodactyly, Talipes equinovarus, Herni... ORPHA:562528
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Weakness of facial musculature, Abnormal pyramidal sign, Ataxia, Flexion contracture OMIM:201470
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Contractural Arachnodactyly, Congenital
Calf muscle hypoplasia, Osteopenia, Ulnar deviation of finger, Elbow flexion contracture, Limited... OMIM:121050
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Opisthotonus, Skeletal muscle atrophy, Hypertonia OMIM:616896
Developmental And Epileptic Encephalopathy 72
Hyperkinetic movements, Inability to walk OMIM:618374
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Metaphyseal cupping of metacarpals, Skeletal muscle atrophy, Cone-shaped capital femoral epiphysi... OMIM:300232
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... ORPHA:282166
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref... OMIM:607876
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Optic atrophy, ... ORPHA:99956
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Microtriplication 11Q24.1
Small hand, Limitation of joint mobility, Speech apraxia, Genu valgum, Hyperkinetic movements, Ta... ORPHA:289522
Chanarin-Dorfman Syndrome
Myopathy, Ataxia OMIM:275630
Harel-Yoon Syndrome
Optic atrophy, Spasticity, Distal amyotrophy, Inability to walk, Ataxia, Dystonia, Hip dysplasia OMIM:617183
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Distal sensory impairment... ORPHA:99027
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Generalized dystonia, Postural tremor, Impaired vibration sensation in the ... ORPHA:98808
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Gait disturbance, Skeletal muscle atrophy, Myopathy ORPHA:85329
Arthrogryposis Multiplex Congenita 5
Hand clenching, Hip dislocation, Hand tremor, Umbilical hernia, Elbow flexion contracture, Akines... OMIM:618947
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness, Parkinsonism, Self-mutilation of tongue and lips d... OMIM:200150
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Talipe... ORPHA:98915
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death OMIM:300219
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Inability to walk, Tremor, Joint contracture, Dystonia, Choreoathetosis OMIM:617664
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis, Myopathy OMIM:618234
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Enlargement of the wrists, Tremor, Metaphyseal chondrodysplasia... ORPHA:83629
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Leg muscle stiffness, Tremor... OMIM:615530
Dpm1-Cdg
Optic atrophy, Muscular dystrophy, Spasticity, Sandal gap, Long hallux, Knee flexion contracture,... ORPHA:79322
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Postural tremor, Dysmetria, Tremor, Loss of ambulation, Babinski sign,... OMIM:607694
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Abnormal pyram... OMIM:615419
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Type 2 muscle fiber atrophy, Facial palsy, Arthro... OMIM:608931
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Distal amyotrophy, Limb ataxia, Gait ataxia, Distal sensory impairm... OMIM:614871
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Chorea, Head tremor, Gait ataxia, L... OMIM:606002
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Huntington Disease
Involuntary movements, Difficulty walking, Inability to walk, Chorea, Gait imbalance, Myoclonus, ... ORPHA:399
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Dystonia, Pa... OMIM:613280
Triosephosphate Isomerase Deficiency
Spasticity, Skeletal muscle atrophy, Tremor, Myopathy, Unsteady gait, Optic disc pallor, Dystonia OMIM:615512
Sialidosis Type 1
Skeletal muscle atrophy, Delayed skeletal maturation, Decreased nerve conduction velocity, Myoclo... ORPHA:812
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Abnormal diaphysis morphology, Joint stiffness, Progressive flexion cont... ORPHA:2028
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature ORPHA:352447
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Single transverse palmar crease, Tremor, Hyperkinetic movements, Gait disturbance, Hip dysplasia,... ORPHA:457240
Stuve-Wiedemann Syndrome 2
Camptodactyly, Bowing of the long bones, Short long bone OMIM:619751
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Knee flexion contracture, Second metata... OMIM:214150
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Atrophic scars, Facial hypotonia, Inguinal hernia, Joint hypermobility, Arachnodactyly, Talipes e... OMIM:615539
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Delayed skeletal maturation, D... OMIM:617675
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Dystonia, Spasticity, Myoclonus, Ataxia OMIM:620094
Aids Wasting Syndrome
Skeletal muscle atrophy ORPHA:90081
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Myoclonus, Intention tremor, Bone pain OMIM:610539
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Flexion contracture, Rocker bottom foot, Hypertonia OMIM:604273
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
4H Leukodystrophy
Optic atrophy, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ... ORPHA:289494
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Difficulty walking, Speech apraxia, Chorea, Inability to walk, Tr... OMIM:615356
Ataxia-Telangiectasia
Spasticity, Skeletal muscle atrophy, Tremor, Gait disturbance, Ataxia ORPHA:100
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Distal amyotrophy, Limb hypertonia, Choreoathetosis OMIM:618247
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Tremor, Ataxia, Clinodactyly of the 5th finger, Dystonia, Choreoathetosis OMIM:619422
Peho-Like Syndrome
Optic atrophy, Myoclonus, Tapered finger OMIM:617507
3-Methylglutaconic Aciduria, Type Viib
Brachioradialis areflexia, Spasticity, Rhizomelia, Myoclonus, Tremor, Hyperkinetic movements, Opi... OMIM:616271
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Inguinal hernia, Rigidity, Babinski sign, Limb hypertonia, Clonus, Joint contractu... OMIM:614498
Myoclonic Epilepsy Of Unverricht And Lundborg
Myoclonus, Ataxia OMIM:254800
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, ... OMIM:615673
Episodic Ataxia, Type 5
Ataxia, Truncal ataxia, Myoclonus, Episodic ataxia OMIM:613855
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Lower limb muscle weakness, Tremor, Hemiparesis, Hypertonia, Hypoes... OMIM:619737
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Waddling gait, Skeletal muscle atrophy, Flexion contracture ORPHA:98896
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen... OMIM:151800
Generalized Epilepsy With Febrile Seizures-Plus
Tibial torsion, Incoordination, Tremor, Limited knee extension, Ataxia, Bradykinesia, Poor fine m... ORPHA:36387
Alzheimer Disease 3
Myoclonus, Abnormality of extrapyramidal motor function, Dystonia, Babinski sign, Apraxia, Optic ... OMIM:607822
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Spasticity, Broad-based gait, Clinodactyly, Babinski sign, Apraxia, Talipes equinovarus, Brachyda... ORPHA:397709
Recombinant Chromosome 8 Syndrome
Camptodactyly, Clinodactyly of the 5th finger, Joint contracture of the hand, Hypertonia OMIM:179613
Ataxia-Oculomotor Apraxia 3
Distal amyotrophy, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia, Frequent falls OMIM:615217
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Joint hypermobility, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Limitation of joint mobility, Skeletal muscle atrophy, Slender long bone, Hypoplastic pelvis, Gai... ORPHA:2840
Charcot-Marie-Tooth Disease Type 4C
Sensory ataxia, Tongue fasciculations, Vocal cord paresis, Distal amyotrophy, Facial paralysis, I... ORPHA:99949
Microcephaly, Amish Type
Myoclonus, Optic atrophy, Flexion contracture, Limb hypertonia OMIM:607196
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Myoclonus, Knee flexion contracture, Hypertonia, Bilateral talipes equ... ORPHA:284417
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Ab... OMIM:255800
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, Ulnar deviation of the hand, Upper ... OMIM:612079
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Dystonia, Tremor, Rigidity OMIM:615010
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Lissencephaly 8
Optic atrophy, Talipes equinovarus, Skeletal muscle atrophy, Appendicular spasticity OMIM:617255
Pontocerebellar Hypoplasia, Type 7
Tongue fasciculations, Spasticity, Spastic paraplegia, Skeletal muscle atrophy, Optic atrophy, My... OMIM:614969
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Congenital contracture, Umbilical hernia, Elbow flexion contracture, Inguinal hernia, Knee flexio... OMIM:616266
Glycogen Storage Disease X
Rhabdomyolysis, Myopathy OMIM:261670
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... OMIM:105210
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia OMIM:271980
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Limb hypert... OMIM:619527
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentia... ORPHA:52368
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Abnormal morphology of musculature of pharynx, Dystonic ga... ORPHA:280210
Basilicata-Akhtar Syndrome
Progressive spasticity, Single transverse palmar crease, Adducted thumb, Camptodactyly, Short foo... OMIM:301032
Stiff-Person Syndrome
Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Rigidity, Opisthotonus, Myoclon... OMIM:184850
Limb-Mammary Syndrome
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly OMIM:603543
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Myoclonus OMIM:618357
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia ORPHA:542310
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
W Syndrome
Spasticity, Radial bowing, Clinodactyly, Elbow dislocation, Cubitus valgus, Hypoplasia of the uln... ORPHA:2804
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Sandal gap, Distal lower limb amyotrophy, Gait ataxia, Tremor, Joint hypermobility, B... OMIM:300354
Xp21 Deletion Syndrome
Spasticity, Finger clinodactyly, Decreased muscle mass, Myopathy, Joint hypermobility, Calf muscl... ORPHA:261476
Sandhoff Disease
Ataxia, Spasticity, Skeletal muscle atrophy, Fasciculations, Impaired temperature sensation, Orth... OMIM:268800
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:601152
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Dravet Syndrome
Tibial torsion, Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Progressiv... ORPHA:33069
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Gait imbalance, Hand muscle atrophy, Ankle clonus... OMIM:211530
Sneddon Syndrome
Hemiplegia, Atrophic scars, Tremor, Impaired distal tactile sensation, Facial palsy OMIM:182410
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Somatic sensory dysfunction, Lower limb muscle weakness, Abnormal... ORPHA:449427
Charcot-Marie-Tooth Disease, Type 4A
Ulnar claw, Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairme... OMIM:214400
Joubert Syndrome 18
Trident pelvis, Joint hypermobility, Postaxial polydactyly, Talipes equinovarus, Bowing of the lo... OMIM:614815
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Myoclonus, Dysmetria, Head titubation, Ataxia, Truncal ataxia, Dystonia OMIM:250620
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Decreased muscle mass, Hypermobility of distal interphalangeal joints... OMIM:615065
Alg8-Cdg
Optic atrophy, Abnormality of subcutaneous fat tissue, Talipes equinovarus, Brachydactyly, Ataxia... ORPHA:79325
Sillence Syndrome
Chess-pawn distal phalanges, Broad thumb, Short finger, Abnormal distal phalanx morphology of fin... ORPHA:3168
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia ORPHA:1170
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
X-Linked Intellectual Disability, Miles-Carpenter Type
Rocker bottom foot, Skeletal muscle atrophy, Joint hypermobility ORPHA:85283
Pelizaeus-Merzbacher Disease
Spastic paraplegia, Broad-based gait, Optic atrophy, Generalized dystonia, Inability to walk, Int... OMIM:312080
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Myoclonus, Rigidity, Babinski sign, Gait disturbance, Dystonia OMIM:600795
Leigh Syndrome
Optic atrophy, Spasticity, Involuntary movements, Skeletal muscle atrophy, Chorea, Multiple joint... ORPHA:506
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus... OMIM:253310
Hsd10 Disease, Infantile Type
Optic atrophy, Poor coordination, Hyperkinetic movements, Dystonia, Loss of ambulation, Spastic t... ORPHA:391428
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death OMIM:620265
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Genu valgum, Multicen... OMIM:223800
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, ... OMIM:146500
Split-Hand/Foot Malformation 3
Camptodactyly, Split hand OMIM:246560
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Talipes equinovarus, Enamel hypoplasia, Camptodactyly, Spastic diplegia OMIM:619980
Choreoacanthocytosis
Resting tremor, Muscle fiber atrophy, Limb dystonia, Myopathy, Loss of ambulation, Parkinsonism, ... ORPHA:2388
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy... ORPHA:225147
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation, Camptodactyly OMIM:264180
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Skeletal muscle atrophy, Abnormal hip bone mo... ORPHA:970
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Pathologic fracture, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign... OMIM:221770
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Decreased muscle mass, Acute infantile spinal muscular at... OMIM:271225
Cap Myopathy
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Abnorma... ORPHA:171881
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Truncal ataxia, Myoclonus, Morning myoclonic jerks, Episodic ataxia OMIM:607682
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Ulnar deviation of finger, Skeletal muscle atrophy, Delayed skele... ORPHA:2013
Pyruvate Dehydrogenase Deficiency
Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Tremor, Mult... ORPHA:765
Sjogren-Larsson Syndrome
Flexion contracture, Spastic paraparesis, Enamel hypoplasia, Spasticity OMIM:270200
Cystathioninuria
Talipes equinovarus, Tremor ORPHA:212
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Postaxial polydactyly, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor coor... ORPHA:544254
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Hip dislocation, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abn... OMIM:614381
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor OMIM:231950
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Myoclonus, Parkinsonism, Oculomotor apraxia, Apr... ORPHA:1020
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial paralysis, Skeletal muscle atrophy, Facial diplegia, Distal sensory impairm... OMIM:613559
Camurati-Engelmann Disease, Type 2
Osteopenia, Skeletal muscle atrophy, Lower limb pain, Hip contracture, Knee flexion contracture, ... OMIM:606631
Sengers Syndrome
Osteopenia, Myopathy OMIM:212350
Adenylosuccinase Deficiency
Spasticity, Skeletal muscle atrophy, Inability to walk, Hemiplegia, Myoclonus, Gait ataxia, Opist... OMIM:103050
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Distal upper limb muscle weakness, Skeletal muscle atrophy, Quadriceps mus... ORPHA:70
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hyperkinetic movements, Gait disturbance, Hypertonia OMIM:236270
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Myopathy, Abnormal muscle glycogen content, Flexion contracture, Abnorma... ORPHA:367
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death OMIM:615228
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Atelosteogenesis Type Ii
Elbow dislocation, Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, T... ORPHA:56304
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Bo... ORPHA:800
Developmental And Epileptic Encephalopathy 46
Limb hypertonia, Tremor OMIM:617162
Rett Syndrome
Spasticity, Skeletal muscle atrophy, Gait ataxia, Gait apraxia, Truncal ataxia, Dystonia, Short foot OMIM:312750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star... OMIM:618056
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Myoclonus, Rigidity OMIM:619057
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Myoclonus, Hemiparesis ORPHA:99802
Congenital Myopathy 19
Congenital contracture, Facial hypotonia, Gait disturbance, Skeletal muscle atrophy OMIM:618578
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic paraparesis, Spastic tetraplegia OMIM:618721
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... ORPHA:169186
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Opisthotonus, Myoclonus OMIM:619814
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Limb muscle weakness, Ragged-red muscle fibers, Parkinsonism, Gait disturbance, E... OMIM:609286
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Congenital Myopathy 12
Joint contracture of the hand, Overlapping fingers, Akinesia, Arachnodactyly, Camptodactyly, Jaw ... OMIM:612540
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Cystinosis
Rickets, Abnormal pyramidal sign, Gait disturbance, Myopathy ORPHA:213
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... ORPHA:199351
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra... ORPHA:204
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hyperesthesia, Small hand, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... ORPHA:371364
Alkuraya-Kucinskas Syndrome
Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinovarus, Oculomot... OMIM:617822
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Distal sensory impairment, Talipes equinovarus, Abnormal p... OMIM:256850
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity ORPHA:3077
Phosphoserine Aminotransferase Deficiency
Myoclonus, Hypertonia OMIM:610992
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Lower limb muscle weakness, Progressive spastic paraparesis, Difficu... ORPHA:79093
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, Broad thumb, Skeletal muscle atrophy, Broad hallux, Difficulty walking, Inability to ... ORPHA:481152
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Congenital hip dislocation, Skeletal muscle atrophy, Overlapping fingers, Multipl... OMIM:618291
Melorheostosis
Atypical scarring of skin, Skeletal muscle atrophy, Joint stiffness, Ectopic ossification in musc... ORPHA:2485
Lennox-Gastaut Syndrome
Falls, Myoclonus ORPHA:2382
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Gait disturbance, Limitation of joint mobility, Hypertonia ORPHA:1192
Saccharopinuria
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Tonne-Kalscheuer Syndrome
Spasticity, Broad thumb, Broad-based gait, Congenital diaphragmatic hernia, Tremor, Brachydactyly OMIM:300978
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Ataxia, Congenital hip dislocation, Joint contracture of the hand, Distal amyotrophy, Foot joint ... ORPHA:456312
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Spasticity, Congenital hip dislocation, Contractures of the large joints, Myoclonu... ORPHA:3078
Gaucher Disease, Type Iii
Spastic paraparesis, Myoclonus, Ataxia OMIM:231000
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Camptodactyly, Brachydactyly, Clinodactyly, Single transverse palmar crease OMIM:613604
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Incr... ORPHA:171430
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hypertonia, Ataxia ORPHA:31
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Chorea, Myoclonus, Inguinal hernia, Lower limb spasticity, Unstead... ORPHA:485350
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death OMIM:614096
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Myoclonus, Tremor, Dystonia, Choreoathetosis OMIM:312170
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Finger syndactyly, Knee flexion contracture, Single transverse palmar ... ORPHA:435938
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Neonatal death OMIM:242500
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Short 5th finger, Short 5th toe, Short 4th toe, Delayed skeletal maturation, Myoclonus, Short 3rd... OMIM:619060
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Inability to walk, Babinski sign, Abnormal pyramidal sign, Dystonia OMIM:617339
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Myoclonus, Limb dystonia, Babinski sign, Limb hypertonia, Limb ... OMIM:608643
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1933
Neuraminidase Deficiency
Skeletal muscle atrophy, Epiphyseal stippling, Myoclonus, Inguinal hernia, Dysmetria, Slurred speech OMIM:256550
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus OMIM:618060
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Optic disc pallor, Delayed skeletal maturation, Inability to wal... ORPHA:404454
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin,... ORPHA:1320
Stuve-Wiedemann Syndrome 1
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc... OMIM:601559
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Myoclonus, Myopathy OMIM:614922
Posttransplant Acute Limbic Encephalitis
Dystonia, Myoclonus, Abnormal autonomic nervous system physiology, Ataxia ORPHA:163921
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, Difficulty walking, Myopathy, Increased intramyocellular lipid d... ORPHA:98907
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Involuntary movements, Incoordination, Abnormality of extrapyramidal motor functio... ORPHA:480864
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Limb dystonia, Myopathy OMIM:604377
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Skeletal muscle atrophy ORPHA:477814
Pontocerebellar Hypoplasia, Type 2E
Optic atrophy, Spasticity, Myoclonus, Opisthotonus, Hypertonia, Osteoporosis, Flexion contracture... OMIM:615851
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Japanese Encephalitis
Opisthotonus, Talipes equinovarus, Paucity of anterior horn motor neurons, Choreoathetosis, Cogwh... ORPHA:79139
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Fasciculations ORPHA:2942
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Lower limb sp... OMIM:620029
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Tremor, Babinski sign, Limb hypertonia, Joint contracture, Dystonia ORPHA:35708
Axial Osteomalacia
Increased bone mineral density, Myopathy, Osteomalacia OMIM:109130
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Broad phalanges of the hand, Partial fusion of carpals, Carpal syn... OMIM:305620
Myoclonic Epilepsy Of Infancy
Myoclonus, Poor motor coordination, Poor hand-eye coordination, Hemiplegia ORPHA:86909
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Congenital diaphragmatic hernia, Hip dysplasia, Camptodactyly, Hemihypot... ORPHA:412035
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Osteoporosis, Syndactyly OMIM:616006
X-Linked Cerebral Adrenoleukodystrophy
Limb myoclonus, Difficulty walking, Inability to walk, Hamstring contractures, Facial myokymia, H... ORPHA:139396
Jaberi-Elahi Syndrome
Hand clenching, Broad-based gait, Optic atrophy, Inability to walk, Joint stiffness, Gait ataxia,... OMIM:617988
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Pure Mitochondrial Myopathy
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Rhabdomyolysis, Loss of ambulation, ... ORPHA:254854
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Patellar aplasia, Arachnodactyly, Talipes equinovarus, Dislocate... OMIM:265000
Myopathy, Myofibrillar, 1
Facial palsy, EMG: myopathic abnormalities OMIM:601419
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bones, Bowing... OMIM:224400
Niemann-Pick Disease, Type A
Spasticity, Skeletal muscle atrophy, Inability to walk, Rigidity, Osteoporosis, Athetosis OMIM:257200
Deafness, X-Linked 5, With Peripheral Neuropathy
Unsteady gait, Skeletal muscle atrophy, Distal sensory impairment OMIM:300614
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Falls, Progressive spastic paraplegia, Progressive spastic paraparesis, Generalize... ORPHA:329308
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Spasticity, Congenital hip dislocation, Skeletal muscle atrophy, Fractures of the ... ORPHA:496641
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Myoclonus, Ragged-red mu... ORPHA:17
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Distal amyotrophy, Progressive spastic paraplegia ORPHA:2821
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Decreased muscle mass, Camptodactyly of finger, Ulnar deviation of th... OMIM:114300
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Brachydactyly,... ORPHA:1358
Usher Syndrome
Abnormal dental enamel morphology, Vestibular areflexia, Myopathy, Ataxia ORPHA:886
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Overlapping toe, Diastasis recti, Inguinal hernia, Single transverse palmar cre... ORPHA:254528
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty wa... OMIM:164310
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Elbow flexion contracture, Carpal synostosis, Cutaneous finger syndactyly, Ing... OMIM:178110
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Inability to walk, Muscle fiber atrophy, Joint h... ORPHA:168572
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Myopathy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Abnormality of... ORPHA:2348
Flynn-Aird Syndrome
Joint stiffness, Skeletal muscle atrophy, Impaired pain sensation, Ataxia ORPHA:2047
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Resting tremor, Myoclonus, Rigidity, Dystonia, Loss of ambulation, Parkinsonism, ... OMIM:168601
Waardenburg Syndrome, Type 4A
Aganglionic megacolon, Spastic paraparesis, Ataxia OMIM:277580
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, ... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Distal amyotrophy, Arthrogryposis multiplex congenita, Tip-toe gait, ... ORPHA:590
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Fasciculations, Tremor, Limb hypertonia, Exaggerated startle response, Limb joint contracture OMIM:620327
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, Hand apraxia, Difficulty walking, Inability to walk, Babinski sign, Lower li... ORPHA:280229
Dystonia-Aphonia Syndrome
Generalized dystonia, Myoclonus, Gait disturbance, Oromandibular dystonia, Macroglossia, Unsteady... ORPHA:412217
Cog8-Cdg
Myoclonus, Skeletal muscle atrophy, Ataxia ORPHA:95428
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Abetalipoproteinemia
Impaired vibratory sensation, Broad-based gait, Osteopenia, Gait ataxia, Positive Romberg sign, D... ORPHA:14
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Coenzyme Q10 Deficiency, Primary, 1
Myoclonus, Ragged-red muscle fibers, Tremor, Loss of ambulation, Decreased level of coenzyme Q10 ... OMIM:607426
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Oculomotor apraxia, Skeletal muscle atrophy OMIM:619759
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Distal amyotrophy, Decreased nerve conduction velocity, Short-se... OMIM:609136
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Talipes equinovarus, Cervical C2/C3 vertebral fusion, Joint hypermobility OMIM:617333
Aceruloplasminemia
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... ORPHA:48818
Tick-Borne Encephalitis
Tongue fasciculations, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Spee... ORPHA:297
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonus, Ataxia OMIM:618225
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Spasticity, Arachnodactyly, Metatarsus adductus, Camptodactyly, Ca... OMIM:612513
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor function OMIM:604218
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraplegia, Paraparesis, Hemiparesis ORPHA:79124
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal ... OMIM:168600
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Lower limb muscle weakness, Equinus calcaneus, Rhabdomyolysis, Skeletal myopathy, B... ORPHA:746
Kufor-Rakeb Syndrome
Blepharospasm, Oculogyric crisis, Leg muscle stiffness, Difficulty walking, Myoclonus, Rigidity, ... ORPHA:306674
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Micromelia OMIM:610015
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Alpha-Mannosidosis, Infantile Form
Spastic paraplegia, Osteopenia, Bilateral coxa valga, Umbilical hernia, Joint stiffness, Genu val... ORPHA:309282
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Pparg-Related Familial Partial Lipodystrophy
Loss of facial adipose tissue, Myopathy, Loss of subcutaneous adipose tissue in limbs, Abnormalit... ORPHA:79083
Developmental And Epileptic Encephalopathy 89
Spasticity, Tetraparesis, Hyperkinetic movements, Dystonia, Talipes equinovarus, Limb undergrowth... OMIM:619124
Leukoencephalopathy With Ataxia
Optic neuropathy, Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Ventral hernia, Br... OMIM:618529
Early Myoclonic Encephalopathy
Myoclonus ORPHA:1935
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Equinus calcaneus, Joint hypermobility, Hyperkinetic movements, 2-3 toe sy... ORPHA:522077
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal s... OMIM:616840
Developmental And Epileptic Encephalopathy 54
Myoclonus OMIM:617391
3P25.3 Microdeletion Syndrome
Broad thumb, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Knee flexion contracture, Po... ORPHA:435638
Hyperekplexia 1
Umbilical hernia, Myoclonus, Inguinal hernia, Hypertonia, Exaggerated startle response, Frequent ... OMIM:149400
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Spasticity, Myoclonus, Type 1 muscle fiber predom... OMIM:612949
Galloway-Mowat Syndrome 1
Hand clenching, Joint contracture of the hand, Spasticity, Slender finger, Optic atrophy, Hiatus ... OMIM:251300
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Inguinal hernia, Opisthotonus, Tetraplegia, Hypertonia OMIM:619272
Kennedy Disease
Gait disturbance, Skeletal muscle atrophy ORPHA:481
Refsum Disease
Skeletal muscle atrophy, Abnormal epiphysis morphology, Hemiplegia/hemiparesis, Abnormal pyramida... ORPHA:773
Cousin Syndrome
Joint contracture of the hand, Rhizomelia, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular ... OMIM:260660
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Impaired vibration sensation in the lower limbs, Lower limb pain, Tremor, Babinski sign, A... ORPHA:447753
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Inguinal hernia, Ar... OMIM:248700
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Impaired vibratory sensation, Gait ataxia, Myoclo... ORPHA:70595
Xeroderma Pigmentosum, Complementation Group F
Flexion contracture, Tremor, Ataxia OMIM:278760
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Skeletal muscle atrophy, Lower limb hypertonia, Postural tremor, Myoclonus, Truncal a... OMIM:301072
Gm1 Gangliosidosis
Optic atrophy, Spasticity, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, G... ORPHA:354
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia OMIM:602481
Glycine Encephalopathy 1
Myoclonus OMIM:605899
Tetanus
Autonomic bladder dysfunction, Stiff neck, Tremor, Rigidity, Opisthotonus, Spasticity of pharynge... ORPHA:3299
Fibrochondrogenesis 1
Hypoplastic ischia, Joint contracture of the hand, Small hand, Rhizomelia, Hypoplastic scapulae, ... OMIM:228520
Rett Syndrome
Skeletal muscle atrophy, Bradykinesia, Difficulty walking, Inability to walk, Gait disturbance, A... ORPHA:778
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po... OMIM:614175
Camptodactyly Syndrome, Guadalajara, Type Iii
Joint contracture of the hand, Small hypothenar eminence, Delayed skeletal maturation, Small then... OMIM:611929
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Myopathy OMIM:212140
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... OMIM:618019
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Small hand, Chorea, Myoclonus, Action tremor, Dysmetri... OMIM:615273
Chylomicron Retention Disease
EMG: myopathic abnormalities, Myopathy, Impaired proprioception ORPHA:71
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Abnormality of the brachial ne... ORPHA:1900
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Neurodevelopmental Disorder With Spasticity And Poor Growth
Ataxia, Spasticity, Bilateral coxa valga, Generalized dystonia, Myoclonus, Knee flexion contractu... OMIM:618076
Lymphangioleiomyomatosis
Optic atrophy, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary inf... ORPHA:538
Adrenomyodystrophy
Reduced bone mineral density, Delayed skeletal maturation, Myopathy ORPHA:977
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Knee flexi... OMIM:618733
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness... OMIM:254940
Behavioral Variant Of Frontotemporal Dementia
Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Gait disturbance, F... ORPHA:275864
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Increased muscle lipid content, Myopathy, Fasciculations OMIM:610717
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Optic atrophy, Clinodactyly, Myoclonus, Brachydactyly, Spastic te... OMIM:614261
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Action tremor, Rigidity, Dystonia, Gait disturbance, Hyp... ORPHA:309854
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death OMIM:619334
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Tremor, Spastic tetraplegia, Choreoathetosis OMIM:612164
Nipah Virus Disease
Myoclonus, Tremor ORPHA:99825
Takenouchi-Kosaki Syndrome
Optic atrophy, Clinodactyly, Overlapping toe, Inguinal hernia, Ataxia, Camptodactyly, Proximal pl... OMIM:616737
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular noncompaction, Myoclonus, Left ventricular hypertrophy, Ataxia, Optic disc pallo... OMIM:619167
Immunodeficiency 115 With Autoinflammation
Fatty replacement of skeletal muscle, Skeletal muscle atrophy, Clubbing, Lower limb muscle weakness OMIM:620632
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... OMIM:207410
Serotonin Syndrome
Abnormality of the autonomic nervous system, Myoclonus, Rhabdomyolysis, Rigidity, Tremor, Clonus,... ORPHA:43116
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia, Optic disc pallor OMIM:618527
Melas
Optic atrophy, Abnormal central motor function, Myoclonus, Ragged-red muscle fibers, Myopathy, He... ORPHA:550
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Sandestig-Stefanova Syndrome
Camptodactyly, Rocker bottom foot, Clinodactyly, Bilateral single transverse palmar creases OMIM:618804
Perry Syndrome
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168605
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Atypical scarring of skin, Skeletal muscle atrophy, Atrophic scars, Joint hypermobili... ORPHA:75496
Sézary Syndrome
Palmoplantar keratoderma, Skeletal muscle atrophy, Tremor ORPHA:3162
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Optic atrophy, Difficulty walking, Myoclonus, Ragged-red muscle fibers, Appendicular spas... OMIM:620451
Hyperekplexia 3
Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response OMIM:614618
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Small hand, Ulnar deviation of finger, Broad femoral neck, Rhizomelia, Shallow acetab... OMIM:611209
Infantile Krabbe Disease
Hyperesthesia, Optic atrophy, Spasticity, Delayed brainstem auditory evoked response conduction t... ORPHA:206436
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Optic atrophy, Skeletal muscle atrophy, Cataplexy, Inability to walk, Lowe... OMIM:617193
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin... ORPHA:280365
Hyperekplexia 2
Hiatus hernia, Myoclonus, Hypertonia, Exaggerated startle response OMIM:614619
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Sclerosis of finger phalanx, Myopathy, Progressive loss of fa... ORPHA:90289
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Atrial Standstill
Muscular dystrophy, Skeletal muscle atrophy, Left ventricular noncompaction, Hemiplegia, Flexion ... ORPHA:1344
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Broad-based gait, Sandal gap, Camptodactyly of finger, Inguinal herni... ORPHA:85293
Becker Muscular Dystrophy
Difficulty walking, Falls, Skeletal muscle atrophy, Tip-toe gait ORPHA:98895
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Single transverse palmar crease, Hypertonia, Clinodactyly of the 5th finger, Flexion cont... OMIM:608093
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Cerebral palsy, Myoclonus, Limb dystonia, Opisthotonus, Babinski sign, Clonus, Hypert... OMIM:619847
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Decreased muscle mass, Atrophic scars, Inguinal hernia, Myopathy, Generalized joi... ORPHA:2953
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Myopathy ORPHA:2238
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria OMIM:619780
Dpagt1-Cdg
Optic atrophy, Clinodactyly, Inability to walk, Akinesia, Tremor, Diffuse optic disc pallor, Arac... ORPHA:86309
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Osteopenia, Increased adipose tissue around the neck, Increased f... OMIM:248370
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonus, Hypertonia OMIM:617290
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Arachnodactyly, Talipes equinovarus, Joint hypermobility OMIM:301039
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypophosphatemic rickets, Myopathy, Si... OMIM:619743
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Progressive spasticity, Skeletal muscle atrophy ORPHA:85323
Congenital Myopathy 17
Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Myopathy, Distal arthrogrypos... OMIM:618975
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Broad-based gait, Spastic paraparesis, Clinodactyly, Dorsocervical fat pad, Down-... ORPHA:391408
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Myoclonus, Hypertonia OMIM:618240
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Spasticity, Clinodactyly, Prominent fingertip pads, R... OMIM:305450
Rheumatic Fever
Fasciculations, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, A... ORPHA:3099
Juvenile Sialidosis Type 2
Optic atrophy, Spasticity, Umbilical hernia, Myoclonus, Inguinal hernia, Dysmetria, Loss of ambul... ORPHA:93399
Brittle Cornea Syndrome
Abnormal epiphysis morphology, Corneal scarring, Increased susceptibility to fractures, Joint hyp... ORPHA:90354
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Diaphragmatic eventration, Action tremor, Lower limb spasticity, Ataxia, Dystonia,... ORPHA:66634
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Skeletal muscle atrophy, Wide distal femoral metaphysis, Umbilical her... OMIM:614856
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Perry Syndrome
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Limitation of joint mobility, Talipes ... OMIM:252500
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Skeletal muscle atrophy OMIM:162100
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Spastic paraparesis, Lower limb muscle weakness, Hemiparesis, Lower limb spasticit... ORPHA:395
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Hip dysplasia OMIM:611961
Immunodeficiency 9
Difficulty walking, Amelogenesis imperfecta, Myopathy OMIM:612782
Oculodentodigital Dysplasia
Spasticity, Spastic paraparesis, Toe syndactyly, Finger syndactyly, Clinodactyly, Short hallux, A... ORPHA:2710
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Death in child... OMIM:613177
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Decreased muscle mass, Inability to walk, Myoclonus, Arachnodactyly, Slend... ORPHA:3063
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Spasticity, Myoclonus, Joint hypermobility, Babinski sign, Facial hypotonia, ... ORPHA:364028
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Optic nerve dysplasia, Single transverse palmar crease, Talipes eq... OMIM:214110
Coffin-Lowry Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Optic atrophy, Skeletal muscl... ORPHA:192
Duane Retraction Syndrome
Blepharospasm, Skeletal muscle atrophy, Preaxial hand polydactyly, Talipes equinovarus, Aplasia/H... ORPHA:233
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture OMIM:615704
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Skeletal muscle atrophy, Umbilical hernia, Large joint hypermobilty, Atrophic scars, ... OMIM:614557
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Spasticity, Skeletal muscle atrophy OMIM:618862
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Myopathy ORPHA:257
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Tracheomalacia, Talipes equinovarus, Ataxia, Camptodactyly, Syndactyly ORPHA:314679
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Humeroradial synostosis, Arachn... ORPHA:95699
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Spastic ... OMIM:605711
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Broad thumb, Clinodactyly, Umbilical hernia, Partial duplication ... OMIM:616331
Wolfram Syndrome
Optic atrophy, Joint stiffness, Myopathy, Abnormal autonomic nervous system physiology, Ataxia ORPHA:3463
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis, Toe syndactyly, Umbilical hernia, Long hallux, Joint hypermobility, Bilatera... OMIM:619234
Myhre Syndrome
Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Generalized muscle hypertrophy... OMIM:139210
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Myoclonus OMIM:612899
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Gait disturbance OMIM:620469
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Rhabdomyolysis, Ataxia ORPHA:79095
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Cohen-Gibson Syndrome
Osteopenia, Broad thumb, Poor coordination, Flared metaphysis, Umbilical hernia, Hypoplastic ilia... OMIM:617561
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia, Skeletal muscle atrophy OMIM:607598
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v... OMIM:224690
Sialuria
Hyperkinetic movements, Long hallux, Joint hypermobility, 2-3 toe syndactyly ORPHA:3166
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Talipes equinovarus OMIM:608104
Intellectual Developmental Disorder, Autosomal Dominant 45
Arachnodactyly, Chorea, Myoclonus, Cerebral palsy OMIM:617600
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Skeletal muscle atrophy, Slender long bone, Abnormal hip bone morph... ORPHA:1486
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Limitation of joint mobility, Delayed skeletal maturation, Abnormal hip ... ORPHA:3068
Glass Syndrome
Broad-based gait, Facial hypotonia, Inguinal hernia, Arachnodactyly, Talipes equinovarus, Camptod... OMIM:612313
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis... OMIM:268310
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Bohring-Opitz Syndrome
Short toe, Dislocated radial head, Overlapping toe, Mesomelic/rhizomelic limb shortening, Tapered... OMIM:605039
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Atypical scarring of skin, Skeletal muscle atrophy, Abnormal denta... OMIM:601701
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Progressive spastic paraplegia, Inguinal hernia, Single transverse... OMIM:247200
Scheie Syndrome
Abnormal nerve conduction velocity, Spastic paraparesis, Limitation of joint mobility, Cerebral p... ORPHA:93474
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Hip subluxation, Myoclonus, Vocal cord paralysis, Dystonia, Increased ... ORPHA:500144
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Delayed skeletal maturation, Abnormal dental enamel morphology... ORPHA:2323
Carcinoid Syndrome
Myopathy ORPHA:100093
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus, Tremor OMIM:619424
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Limb dystonia, Dysmetria, Tremor, Limb hypertonia, Ataxia, Athetosis, Spastic... ORPHA:572798
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Myoclonus, Intention tremor, Dysmetria, Positive Romberg sign, Babinski sign, Gait disturbance, C... OMIM:301310
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Single transverse palmar crease, Talipes equ... OMIM:619148
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hemiplegia/hemiparesis ORPHA:156
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Short toe, Abnormal hip bone morphology, Joint hypermobility, Camptodact... ORPHA:127
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Myoclonus OMIM:616158
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy ORPHA:269
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Ataxia OMIM:614299
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Spastic tetraplegia, Joint contracture OMIM:614462
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Clinodactyly, Delayed skeletal maturation, Slender long bone, Limited elbow extension, Single tra... OMIM:613385
Combined Oxidative Phosphorylation Deficiency 27
Tetraparesis, Chorea, Myoclonus, Opisthotonus, Dystonia OMIM:616672
Marbach-Schaaf Neurodevelopmental Syndrome
Hemidystonia, Speech apraxia, Tremor, Brachydactyly, Torticollis, Tapered finger OMIM:619680
Full Schwannomatosis
Hypoesthesia, Lipoma, Paresthesia, Fasciculations ORPHA:93921
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death OMIM:613730
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Left ventricular hypertrophy, Ataxia, Dysto... OMIM:618321
Camurati-Engelmann Disease
Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abno... ORPHA:1328
Congenital Heart Defects And Skeletal Malformations Syndrome
Sandal gap, Congenital diaphragmatic hernia, Joint hypermobility, Arachnodactyly, Camptodactyly, ... OMIM:617602
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Spasticity, Osteopenia, Pathologic fracture, Hemiplegia, Metaphyseal sclerosis, Ge... OMIM:612199
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Peho Syndrome
Optic atrophy, Myoclonus, Tapered finger OMIM:260565
Zygomycosis
Atelectasis, Pleural effusion, Parenchymal consolidation, Abnormal cranial nerve morphology, Pulm... ORPHA:73263
Purine Nucleoside Phosphorylase Deficiency
Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Hypertonia, Ataxia ORPHA:760
Renpenning Syndrome
Clinodactyly of the 5th finger, Joint stiffness, Skeletal muscle atrophy, Abnormal thumb morphology ORPHA:3242
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Spasticity, Camptodactyly of finger, Multiple joint contractures, Knee... ORPHA:468631
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Myopathy ORPHA:228305
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi... ORPHA:263297
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Camurati-Engelmann Disease
Skeletal muscle atrophy, Cranial nerve compression, Limb pain, Genu valgum, Optic nerve compressi... OMIM:131300
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Osteopoikilosis, Skeletal muscle atrophy, Tremor ORPHA:94063
Pseudohypoparathyroidism Type 2
Paresthesia, Myoclonic spasms, Laryngeal dystonia ORPHA:94090
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Skeletal muscle hypertrophy OMIM:608390
3-Methylglutaconic Aciduria Type 7
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Opisthotonus, Abnormal pyram... ORPHA:445038
D-Glyceric Aciduria
Myoclonus, Spasticity, Chorea ORPHA:941
Scleromyxedema
Abnormal forearm morphology, Abnormality of the hand, Abnormal skeletal muscle morphology, Myopathy ORPHA:167635
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Small hand, Inguinal hernia, Bilateral single transverse palmar creases, Sagittal craniosynostosi... ORPHA:459061
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Clinodactyly, Delayed skeletal maturation, Elbow flexion contracture, Si... OMIM:616200
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death OMIM:613390
Hurler Syndrome
Abnormal nerve conduction velocity, Spastic paraparesis, Limitation of joint mobility, Abnormal e... ORPHA:93473
Geroderma Osteodysplasticum
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, Camptodactyly, ... OMIM:231070
Progressive Supranuclear Palsy
Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia ORPHA:683
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus ORPHA:411986
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Atelectasis, Neonatal death OMIM:269860
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint contracture of the hand, Umbilical hernia, Genu valgum, Inguinal hernia, Minima... OMIM:182212
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Hypertonia, Tremor OMIM:250800
Gabriele-De Vries Syndrome
Sandal gap, Tip-toe gait, Tremor, Distal arthrogryposis, Hallux valgus, Long fingers, Facial hypo... OMIM:617557
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Atypical scarring of skin, Congenital hip dislocation, Skeletal muscle atrophy, Umbil... ORPHA:536545
Epidermal Nevus Syndrome
Osteopenia, Progressive spastic paraparesis, Babinski sign, Hypertonia, Lipoma, Rhabdomyosarcoma,... ORPHA:35125
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Small hand, Poor coordination, Skeletal muscle atrophy, Clinodactyly, Delayed skel... OMIM:309590
Tetrasomy 15Q26
Camptodactyly, Arachnodactyly OMIM:614846
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Involuntary movements, Myoclonus, Appendicular spasticity, Opisthotonus, Clonus OMIM:620352
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Myopathy ORPHA:99901
Trisomy 17P
Skeletal muscle atrophy, Clinodactyly of the 5th finger, Hypertonia, Macroglossia, Flexion contra... ORPHA:261290
Joubert Syndrome
Tremor, Aganglionic megacolon, Hand polydactyly, Oculomotor apraxia, Gait disturbance, Ataxia, Fo... ORPHA:475
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Epiphyseal stippling, Optic nerve dysplasia, Single transverse palmar crease, Tali... OMIM:614866
Glycogen Storage Disease Iv
Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle atrophy, Talipes equinov... OMIM:232500
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Abnormal autonomic nervous system phy... ORPHA:2828
Van Maldergem Syndrome 1
Osteopenia, Clinodactyly, Tracheomalacia, Cutaneous finger syndactyly, Joint hypermobility, Short... OMIM:601390
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Myoclonus, Limitation of movement at ankles, Tremor, Ataxia ORPHA:98794
Congenital Sialidosis Type 2
Optic atrophy, Spasticity, Umbilical hernia, Myoclonus, Inguinal hernia, Dysmetria, Polydactyly, ... ORPHA:93400
Immunodeficiency 10
Amelogenesis imperfecta, Myopathy OMIM:612783
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Ataxia, Dystonia, Short foot, Choreoat... OMIM:615471
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Joint contracture of the hand, Small hand, Delayed skeletal maturation,... OMIM:235510
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Myoclonus, Hypertonia ORPHA:289266
D-Glyceric Aciduria
Spasticity, Myoclonus, Appendicular spasticity, Single transverse palmar crease, Opisthotonus, Sp... OMIM:220120
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Inguinal hernia OMIM:618603
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Myoclonus, Hypertonia ORPHA:79096
Familial Infantile Myoclonic Epilepsy
Blepharospasm, Limb myoclonus, Clumsiness, Gait disturbance, Ataxia ORPHA:352582
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Broad thumb, Keloids, Decreased muscle mass, Elbow contracture, Finge... OMIM:617137
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Peripapillary atrophy, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Wolfram Syndrome 1
Optic atrophy, Limited mobility of proximal interphalangeal joint, Tremor, Ataxia OMIM:222300
Alternating Hemiplegia Of Childhood
Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oculomotor ... ORPHA:2131
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Facial palsy, Atelectasis ORPHA:258
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia OMIM:616640
Galloway-Mowat Syndrome 3
Spasticity, Arachnodactyly, Hiatus hernia, Camptodactyly, Hip dislocation OMIM:617729
Mitochondrial Trifunctional Protein Deficiency 1
Rhabdomyolysis, Myopathy OMIM:609015
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Incoordination, Inguinal hernia, Tremor, Single transverse palmar crea... OMIM:614947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Skeletal muscle atrophy, Calf muscle hypertrophy, Exaggerated ... OMIM:253800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Myopathy, Hypocalcification of dental enamel ORPHA:169090
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Small hand, Sandal gap, Inability to walk, Myoclonus, Tremor, Joint hypermobility, 2-... OMIM:619229
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Slender finger, Atypical scarring of skin, Atrophic scars, Joint hypermobility, Talipes equinovar... OMIM:618343
21Q22.11Q22.12 Microdeletion Syndrome
Acromesomelia, Clinodactyly, Delayed skeletal maturation, Short proximal phalanx of the 5th finge... ORPHA:261323
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Camptodactyly of finger, Elbow flexion contracture, Tibial torsion, Joint contractu... OMIM:602782
Pediatric-Onset Graves Disease
Hyperkinetic movements, Craniosynostosis, Accelerated skeletal maturation, Tremor ORPHA:525731
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy OMIM:617713
Bannayan-Riley-Ruvalcaba Syndrome
Broad thumb, Skeletal muscle atrophy, Delayed skeletal maturation, Myopathy, Joint hypermobility,... ORPHA:109
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Dystonia, Myoclonus, Appendicular spasticity OMIM:617669
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Skeletal muscle atrophy, Finger syndactyly, Camptodactyly of finger, H... ORPHA:2215
Trisomy 10P
Poor motor coordination, Abnormal auditory evoked potentials, Short toe, Decreased muscle mass, T... ORPHA:171929
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ... OMIM:301044
Say-Barber-Miller Syndrome
Optic atrophy, Spastic paraparesis, Patellar hypoplasia, Elbow flexion contracture, Ulnar deviati... ORPHA:3132
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Camptodactyly, Clinodactyly, Joint hypermobility OMIM:617360
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Osteopenia, Skeletal m... ORPHA:2671
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Myoclonus, Tetraparesis OMIM:618972
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Myopathy ORPHA:3467
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Meier-Gorlin Syndrome 2
Tracheomalacia, Slender long bone, Delayed skeletal maturation, Patellar aplasia, Joint hypermobi... OMIM:613800
Congenital Myopathy 21 With Early Respiratory Failure
Inguinal hernia, EMG: myopathic abnormalities OMIM:620326
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Myoclonus, Rickets, Ataxia OMIM:560000
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy, Finger syndactyly, Absent hand, Aplasi... ORPHA:570
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Broad-based gait, Clinodactyly, Broad 2nd toe, Umbilical hernia, C... OMIM:280000
Distal Triplication 15Q
Arachnodactyly, Hernia, Camptodactyly, Craniosynostosis, Flexion contracture ORPHA:314588
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Clinodactyly of the 2nd finger, Prominent fingertip pads, Delayed skelet... ORPHA:251061
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Myoclonus, Action tremor, Unsteady gait, Intention tremor OMIM:254900
Adrenomyeloneuropathy
Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Distal sensory impairment, Dis... ORPHA:139399
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Inability to walk, Myoclonus, Gait disturbance, Ataxia, Cortical myoclonus ORPHA:168491
Afibrinogenemia, Congenital
Death in adolescence, Death in childhood, Death in infancy, Neonatal death OMIM:202400
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Extrapyramidal muscular rigidity, Difficulty walking, Multiple j... ORPHA:51
Xanthinuria, Type I
Myopathy OMIM:278300
Metachromatic Leukodystrophy
Tip-toe gait, Incoordination, Decreased nerve conduction velocity, Limb pain, Tremor, Dystonia, G... ORPHA:512
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis OMIM:618278
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, EMG: myopathic abnormalities, Preaxial hand... ORPHA:2549
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Camptodactyly of toe, Arachnodactyly, Camptodactyly, Wide femoral metaphysis OMIM:610474
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Joint contracture of the hand OMIM:608257
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Spasticity, Myoclonus, Facial-lingual fasciculations, Spastic tetraplegia, Exagger... OMIM:617281
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Fibular aplasia, Scle... OMIM:300373
Fatal Familial Insomnia
Myoclonus, Abnormal autonomic nervous system physiology, Ataxia OMIM:600072
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy OMIM:617143
Supranuclear Palsy, Progressive, 1
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Pa... OMIM:601104
Alg12-Cdg
Sandal gap, Overlapping fingers, Talipes equinovarus, Long fingers, Abnormal bone ossification, C... ORPHA:79324
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Myoclonus, Rigidity OMIM:300673
Autosomal Dominant Optic Atrophy And Cataract
Deviation of the 2nd finger, Optic atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyr... ORPHA:67036
Lujo Hemorrhagic Fever
Atelectasis ORPHA:319213
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Skeletal muscle atrophy, Abnormality of peripheral nerve conduction ORPHA:168563
Galloway-Mowat Syndrome 10
Arachnodactyly, Myoclonus OMIM:619609
Boomerang Dysplasia
Neonatal death OMIM:112310
Sandhoff Disease, Infantile Form
Spasticity, Myoclonus, Exaggerated startle response ORPHA:309155
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Skeletal muscle atrophy, Cerebral palsy OMIM:210210
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus, Abnormal autonomic nervous system physiology ORPHA:168593
Alexander Disease
Osteopenia, Spasticity, Chorea, Tremor, Abnormal pyramidal sign, Clonus, Tetraplegia, Gait distur... ORPHA:58
Early-Onset Lafora Body Disease
Spastic tetraparesis, Myoclonus, Ataxia ORPHA:324290
Barth Syndrome
Talipes equinovarus, Gait disturbance, Skeletal myopathy OMIM:302060
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Joint hypermobility ORPHA:230839
Biotinidase Deficiency
Optic atrophy, Spastic paraparesis, Limb muscle weakness, Ataxia, Optic neuropathy ORPHA:79241
Fetal Gaucher Disease
Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Generalized lipodystrophy, Myositis, Flexion contracture, Panniculitis OMIM:619183
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Skeletal muscle atrophy, Babinski sign, Enamel hypoplasia, Hypertonia OMIM:615802
Stormorken Syndrome
Myopathy OMIM:185070
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia OMIM:620371
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Lower limb... OMIM:300257
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Fabry Disease
Fasciculations, Paresthesia, Abnormality of the hand, Left ventricular hypertrophy, Abnormal auto... OMIM:301500
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysi... ORPHA:368
Niemann-Pick Disease Type C
Cataplexy, Speech apraxia, Chorea, Myoclonus, Limb dystonia, Tremor, Axial dystonia, Progressive ... ORPHA:646
Stromme Syndrome
Optic nerve hypoplasia, Myopathy, Preaxial polydactyly OMIM:243605
Brain-Lung-Thyroid Syndrome
Involuntary movements, Falls, Incoordination, Chorea, Myoclonus, Intention tremor, Clumsiness, Ap... ORPHA:209905
Acquired Generalized Lipodystrophy
Generalized lipodystrophy, Myopathy, Accelerated skeletal maturation, Panniculitis, Calf muscle p... ORPHA:79086
9P13 Microdeletion Syndrome
Hand tremor, Umbilical hernia, Joint stiffness, Myoclonus, Clinodactyly of the 5th finger, Absent... ORPHA:324313
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Joint contracture of the hand, Delayed skeletal maturation, Umbilical herni... OMIM:611962
Intellectual Developmental Disorder, Autosomal Dominant 42
Hand clenching, Cerebral palsy, Lower limb muscle weakness, Inability to walk, Hemiplegia, Myoclo... OMIM:616973
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Small proximal tibi... ORPHA:96334
Teebi-Shaltout Syndrome
Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Ulnar deviation of the ha... OMIM:272950
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Clinodactyly, Sandal gap, Single transverse palmar crease, Short h... OMIM:608156
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Chromosome 16P13.3 Duplication Syndrome
Short toe, Short thumb, Sandal gap, Cervical C5/C6 vertebrae fusion, Facial hypotonia, Inguinal h... OMIM:613458
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Camptodactyly, Overlapping toe ORPHA:363444
Orofaciodigital Syndrome Type 3
Spasticity, Postaxial foot polydactyly, Myoclonus, Short sternum, Oculomotor apraxia, Postaxial h... ORPHA:2752
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
Developmental And Epileptic Encephalopathy 100
Small hand, Elbow flexion contracture, Chorea, Myoclonus, Gait ataxia, Single transverse palmar c... OMIM:619777
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Broad-based gait, Skeletal muscle atrophy, Painless fractures due to injury, ... OMIM:256810
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Bowing of the long bones, Talipes equinovarus, Prominent coccyx, M... OMIM:249420
Faciodigitogenital Syndrome, Autosomal Recessive
Inguinal hernia, Down-sloping shoulders, Hyperextensible hand joints, Metatarsus adductus, Broad ... OMIM:227330
Aymé-Gripp Syndrome
Limitation of joint mobility, Reduced arm span, Congenital diaphragmatic hernia, Inguinal hernia,... ORPHA:1272
Scorpion Envenomation
Hemifacial spasm, Paresthesia, Myoclonus, Rhabdomyolysis, Tremor, Hyperkinetic movements, Ataxia ORPHA:466677
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ... OMIM:616145
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Proximal femoral epiphysiolysis, Myopathy, Joint hypermobility OMIM:162300
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Spasticity, Short 1st metacarpal, Umbilical hernia, Overlapping t... ORPHA:798
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Tyrosinemia Type 2
Palmoplantar keratoderma, Tremor, Ataxia ORPHA:28378
1P36 Deletion Syndrome
Optic atrophy, Camptodactyly of finger, Joint stiffness, Clinodactyly of the 5th finger, Hemipleg... ORPHA:1606
Chromosome 8Q21.11 Deletion Syndrome
Camptodactyly, Short metacarpal, Absent palmar crease, Syndactyly OMIM:614230
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Finger clinodactyly, Brachydactyly, Camptodactyly, Rocker bottom foot, Tapered finger OMIM:601353
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Brachydactyly, Omphalocele, Camptodactyly, Short phalanx of finger, Me... OMIM:616894
Hyperphosphatasia-Intellectual Disability Syndrome
Clinodactyly, Myoclonus, Aganglionic megacolon, Oculomotor apraxia, Gait disturbance, Ataxia, Sho... ORPHA:247262
Developmental And Epileptic Encephalopathy 2
Small hand, Inability to walk, Myoclonus, Short foot, Tapered finger OMIM:300672
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger... ORPHA:2990
Ataxia-Telangiectasia
Dysdiadochokinesis, Inability to walk, Myoclonus, Intention tremor, Tremor, Ataxia, Dystonia, Slu... OMIM:208900
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy OMIM:115197
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Delayed skeletal maturation, Generalized joint hypermobility, Camptodactyly, Osteopor... ORPHA:432
Whipple Disease
Myoclonus, Myositis, Abnormal pyramidal sign, Arthritis, Ataxia ORPHA:3452
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyly o... ORPHA:1352
H Syndrome
Delayed skeletal maturation, Osteolysis, Hernia, Hallux valgus, Lipodystrophy, Camptodactyly, Rec... ORPHA:168569
Orofaciodigital Syndrome Iii
Short sternum, Postaxial foot polydactyly, Myoclonus, Postaxial hand polydactyly OMIM:258850
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Myopathy ORPHA:157
Angelman Syndrome
Optic atrophy, Broad-based gait, Inability to walk, Myoclonus, Tremor, Ataxia, Optic disc pallor ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 54
Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, A... OMIM:617799
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy OMIM:245400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Clinodactyly, Overlapping toe, Inguinal hernia, Camptodactyly, Flexion contracture... ORPHA:487796
Neuroblastoma, Susceptibility To, 1
Bone pain, Myoclonus, Horner syndrome, Ataxia OMIM:256700
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy ORPHA:85450
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Lower limb muscle weakness, Rhabdomyolysis, Tremor, Respiratory par... ORPHA:79102
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Ragged-red muscle fibers, Babinski si... OMIM:252010
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal femoral torsion, Tibial torsion, Long hallux, Abnormal thumb morphology, Tibial bowing, ... ORPHA:500095
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Umbilical hernia, Cutaneous finger syndactyly, Bilateral posta... OMIM:614976
Oculocerebrorenal Syndrome Of Lowe
Atelectasis, Recurrent respiratory infections, Death in infancy ORPHA:534
Abcd Syndrome
Neonatal death OMIM:600501
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Myopathy, Gait disturbance, Narrow iliac wing, Flexion contracture, Osteolysis ORPHA:3042
Williams Syndrome
Synostosis of joints, Spasticity, Genu valgum, Myopathy, Radioulnar synostosis, Ataxia, Increased... ORPHA:904
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Inguinal hernia, Myopathy, Single transverse palmar crease, Panniculitis OMIM:612541
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Optic atrophy, Atelectasis, Abnormal lung lobation ORPHA:567
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Umbilical hernia, Osteochondritis dissecans, Inguinal hernia, Congenital diap... OMIM:619656
Fryns Syndrome
Short distal phalanx of finger, Joint contracture of the hand, Prominent fingertip pads, Short th... OMIM:229850
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Camptodactyly, Clinodactyly ORPHA:228426
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Dupuytren contracture, Limited elbow movement, Myositis, Limi... ORPHA:39812
Early Infantile Epileptic Encephalopathy
Spasticity, Episodic ataxia, Short finger, Broad phalanx of the toes, Umbilical hernia, Myoclonus... ORPHA:1934
Walker-Warburg Syndrome
Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeleta... ORPHA:899
Combined Oxidative Phosphorylation Deficiency 57
Dystonia, Myoclonus OMIM:620167
Immunodeficiency 23
Somatic sensory dysfunction, Myoclonus, Joint hypermobility, Ataxia, Cortical myoclonus OMIM:615816
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo... OMIM:612474
Marfan Syndrome
Decreased muscle mass, Premature osteoarthritis, Equinus calcaneus, Reduced subcutaneous adipose ... OMIM:154700
Recon Progeroid Syndrome
Skeletal muscle atrophy, Long thumb, Joint hypermobility, Arachnodactyly, Proximal placement of t... OMIM:620370
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Cockayne Syndrome
Optic atrophy, Spasticity, Congenital contracture, Contractures of the large joints, Skeletal mus... ORPHA:191
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Clinodactyly, Delayed skeletal maturation, Inability to walk, Diastasis ... ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Neonatal death OMIM:618839
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Inability to walk, Rhabdomyolysis, Increased intramyocellular lipid drop... ORPHA:26791
Meester-Loeys Syndrome
Broad distal phalanx of finger, Umbilical hernia, Joint hypermobility, Arachnodactyly, Brachydact... OMIM:300989
Neuroblastoma
Pathologic fracture, Antalgic gait, Myoclonus, Horner syndrome, Ataxia, Bone pain ORPHA:635
Werner Syndrome
Small hand, Chondrocalcinosis, Skeletal muscle atrophy, Joint stiffness, Lipodystrophy, Osteoporo... ORPHA:902
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Chorea, Myoclonus, Rigidity, O... ORPHA:217253
Eales Disease
Optic disc pallor, Spastic paraparesis ORPHA:40923
Donohue Syndrome
Adipose tissue loss, Delayed skeletal maturation, Skeletal muscle atrophy, Large hands OMIM:246200
Chand Syndrome
Atelectasis ORPHA:1401
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Involuntary movements, Spasticity, Skeletal muscle atrophy, Fasciculations, Myoclo... ORPHA:284339
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Necrotizing myopathy, Abnormality of masse... ORPHA:423
Listeriosis
Somatic sensory dysfunction, Stiff neck, Osteomyelitis, Myoclonus, Tremor, Rhabdomyolysis, Hemipa... ORPHA:533
Wilson Disease
Poor motor coordination, Chondrocalcinosis, Hand tremor, Osteomalacia, Decreased nerve conduction... OMIM:277900
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Abnormal dental enamel morphology, Myoclonus, Craniosynostosis, Recurrent fra... ORPHA:251004
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Myoclonus, Polydactyly ORPHA:314655
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia, Skeletal muscle atrophy OMIM:219080
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Vici Syndrome
Left ventricular hypertrophy, Myopathy OMIM:242840
Glycerol Kinase Deficiency
Pathologic fracture, Osteoporosis, Muscular dystrophy, Myopathy OMIM:307030
Argininemia
Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls OMIM:207800
Cystinosis, Nephropathic
Rickets, Skeletal muscle atrophy, Delayed skeletal maturation, Genu valgum, Hypophosphatemic rick... OMIM:219800
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Myopathy OMIM:261740
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Talipes equinovarus, Joint contracture, Hip... OMIM:617403
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Difficulty walking, Abnormality of peripheral nerve conduction, Enamel h... ORPHA:90324
Renpenning Syndrome 1
Joint contracture of the hand, Spasticity, Synostosis of the proximal phalanx of the thumb with t... OMIM:309500
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Abnormality of the shoulder girdle musculature, Increased muscle lipid content, ... ORPHA:565612
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Joint stiffness, Skeletal muscle atrophy OMIM:615934
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Toe syndac... OMIM:256520
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy OMIM:614300
Relapsing Polychondritis
Atelectasis ORPHA:728
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Absent distal phalanges, Joint ... OMIM:610168
Glucocorticoid Deficiency 2
Spastic tetraparesis, Myoclonus OMIM:607398
Congenital Myopathy 13
Skeletal muscle atrophy, Weakness of facial musculature, Fatty replacement of skeletal muscle, In... OMIM:255995
Leprosy
Skeletal muscle atrophy, Dissociated sensory loss, Autoamputation of digits, Impaired temperature... ORPHA:548
Lafora Disease
Spasticity, Giant somatosensory evoked potentials, Inability to walk, Myoclonus, Gait disturbance... ORPHA:501
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonus, Ankle clonus, Hypertonia, Exaggerated startle response, Dystonia OMIM:620423
Kinsship Syndrome
Osteopenia, Dislocated radial head, Myoclonus, Single transverse palmar crease, Polydactyly, Fibu... OMIM:619297
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Limb-girdle muscle weakness, Osteoporosis, Pelvic girdle... ORPHA:79240
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Unilateral Polymicrogyria
Involuntary movements, Giant somatosensory evoked potentials, Pseudobulbar paralysis, Myoclonus, ... ORPHA:268943
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hand clenching, Spastic paraparesis, Sandal gap, Broad hallux, Umbi... OMIM:300166
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Skeletal muscle atrophy, Camptodactyly of finger, Elbow fl... OMIM:256040
Cutis Laxa, Autosomal Recessive, Type Iic
Hand clenching, Overlapping toe, Reduced subcutaneous adipose tissue, Knee flexion contracture, J... OMIM:617402
Pgm3-Cdg
Osteomyelitis, Myoclonus, Brachydactyly, Ataxia, Cortical myoclonus ORPHA:443811
Ayme-Gripp Syndrome
Camptodactyly, Radioulnar synostosis, Brachydactyly, Tapered finger OMIM:601088
Ethylene Glycol Poisoning
Myoclonus, Facial palsy, Slurred speech, Ataxia ORPHA:31826
Chromosome 1P36 Deletion Syndrome, Proximal
Camptodactyly, Clinodactyly OMIM:619343
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Inguinal hernia, Joint hypermobility, Arachnodactyly, Talipes equi... OMIM:609192
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
3-Hydroxy-3-Methylglutaric Aciduria
Myoclonus, Spasticity, Spastic hemiparesis, Ataxia ORPHA:20
Mednik Syndrome
Death in childhood, Death in infancy, Neonatal death OMIM:609313
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Skeletal muscle atrophy, Adducted thumb OMIM:608779
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Ventral hernia, Omphalocele, Ca... OMIM:200110
Opsoclonus-Myoclonus Syndrome
Rigidity, Myoclonus, Limb myoclonus, Ataxia ORPHA:1183
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death OMIM:265120
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Mitten deformity, Flexion contracture, Atypical scarring of skin, Skeletal muscle atrophy ORPHA:89842
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Optic atrophy, Optic disc coloboma, Camptodactyly of finger, Delayed skeletal m... OMIM:607872
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Broad-based gait, Broad hallux, Impaired pain sensation, Delayed skeletal maturation,... ORPHA:261537
African Trypanosomiasis
Involuntary movements, Somatic sensory dysfunction, Fasciculations, Abnormal central motor functi... ORPHA:3385
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia, Osteoporosis OMIM:203700
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Falls, Shoulder gir... ORPHA:273
Lathosterolosis
Postaxial foot polydactyly, Toe syndactyly, Myoclonus, Postaxial hand polydactyly ORPHA:46059
Myoclonic Epilepsy Of Lafora 1
Apraxia, Gait disturbance, Myoclonus OMIM:254780
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Genu varum ORPHA:1969
Digeorge Syndrome
Recurrent pneumonia, Recurrent sinusitis, Atelectasis OMIM:188400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Myoclonus, Clonus, Spastic tetraplegia OMIM:619055
Microform Holoprosencephaly
EMG: myopathic abnormalities ORPHA:280200
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Skeletal muscle atrophy OMIM:219090
Proteus Syndrome
Macrodactyly, Finger syndactyly, Decreased muscle mass, Lipoma, Myofibrillar myopathy, Abnormal d... ORPHA:744
Mowat-Wilson Syndrome
Spasticity, Broad-based gait, Broad hallux, Impaired pain sensation, Delayed skeletal maturation,... ORPHA:2152
Stickler Syndrome
Skeletal muscle atrophy, Proximal femoral epiphysiolysis, Abnormal diaphysis morphology, Abnormal... ORPHA:828
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Osteoporosis, Skeletal muscle atrophy ORPHA:264580
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Broad-based gait, Long hallux, Genu valgum, Arachnodactyly, Poor fine motor coordinat... ORPHA:261552
Loeys-Dietz Syndrome 3
Osteopenia, Hip osteoarthritis, Umbilical hernia, Atrophic scars, Cystocele, Osteochondritis diss... OMIM:613795
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Carpal synostosis, Femoral bowing, Humeroradial synostosis, Ulnar ... OMIM:201750
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Myoclonus, Hypertonia, Ataxia OMIM:618426
Microphthalmia, Syndromic 1
Joint contracture of the hand, Clinodactyly, Prominent fingertip pads, Radial deviation of finger... OMIM:309800
Dermatomyositis
Cellulitis, Chondrocalcinosis, Inflammatory myopathy, Myositis, Limb-girdle muscle weakness, Arth... ORPHA:221
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Spasticity, Skeletal muscle atrophy, Finger syndactyly,... ORPHA:110
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Involuntary movements, Broad-based gait, Inability to walk, Myoclonus, Uterine prolap... ORPHA:438213
Primrose Syndrome
Short distal phalanx of finger, Distal amyotrophy, Skeletal muscle atrophy, Genu valgum, Reduced ... OMIM:259050
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy OMIM:615895
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Somatic sensory dysfunction, Swelling of proximal interphalangeal joints... ORPHA:3260
Atypical Werner Syndrome
Chondrocalcinosis, Skeletal muscle atrophy, Limitation of joint mobility, Finger clinodactyly, Sc... ORPHA:79474
Acrofacial Dysostosis, Cincinnati Type
Laryngeal dystonia, Abnormality of coordination, Femoral bowing, Myoclonus, Inguinal hernia, Sing... OMIM:616462
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Optic atrophy, Sirenomelia, Myoclonus, Aplasia/... ORPHA:79500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Muscular dystrophy, Myoclonus, Spasticity OMIM:253280
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Osteomyelitis OMIM:614162
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Limited elbow movement, Arachnodactyly, Joi... ORPHA:558
Lysinuric Protein Intolerance
Osteoporosis, Skeletal muscle atrophy, Recurrent fractures, Delayed skeletal maturation OMIM:222700
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy OMIM:618252
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Skeletal muscle atrophy ORPHA:647
Leprechaunism
Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, 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
Agrntm269628(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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