Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MAM domain containing glycosylphosphatidylinositol anchor 2
Synonyms:
6720489L24Rik,  Mamdc1,  Mdga2,  9330209L04Rik,  Adp

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mdga2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mdga2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... OMIM:253400
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... OMIM:614436
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... ORPHA:225154
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... OMIM:604484
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... OMIM:302800
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... ORPHA:90103
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Inability t... ORPHA:482601
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... OMIM:613954
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Babinski sign, Distal sensory impai... OMIM:615043
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Generalized amyotrophy, Loss of ambulation, Scapular winging, Lumbar hyperlordosis, Fa... OMIM:167320
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... ORPHA:300605
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Proximal muscle weakness, Cent... OMIM:271150
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of periphe... ORPHA:65684
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Clonus, Microcytic anemia, Proximal muscle weakness,... OMIM:618811
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... ORPHA:99947
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn... OMIM:614373
Spastic Paraplegia 38, Autosomal Dominant
Lower limb spasticity, Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Spa... OMIM:612335
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Respira... ORPHA:45448
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... OMIM:620285
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Inabili... ORPHA:2596
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:605285
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Opti... OMIM:615658
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:600361
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Hypotonia, Limb ataxia, Hand tremor, Degeneration of anterior ho... OMIM:607596
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia OMIM:300857
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Inability to walk, Kyphosis, Babinski sign, Spast... OMIM:611225
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, EEG with persistent abnormal rhythmic activity, Gait ata... ORPHA:282166
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Babinski sign, Spastic paraplegia, Impaired di... OMIM:616282
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... OMIM:253550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Progressive external ophthalmoplegia, Peripheral axonal degeneration, Dystoni... OMIM:208920
Spastic Paraplegia 62, Autosomal Recessive
Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Babinski sign, Tip-to... OMIM:615681
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Decreased ne... OMIM:612577
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Short metacarpal, Ataxia, Coxa valga, Centrally nucl... OMIM:248800
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo... OMIM:608030
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion con... OMIM:611105
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Distal muscle weakness, Hyperlordosis, Proximal mus... ORPHA:52430
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... ORPHA:435387
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Somatic sensory dysfunction, Distal muscle weakness, Babinski sign, Spas... ORPHA:357043
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Hand muscle weakness, ... OMIM:616280
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper limb muscle weakn... OMIM:616155
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... ORPHA:101097
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... ORPHA:600
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Autosomal Recessive Spastic Paraplegia Type 62
Lower limb spasticity, Thoracic scoliosis, Skeletal muscle atrophy, Clonus, Knee flexion contract... ORPHA:401785
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Small for gestational age, Camptodactyly ... OMIM:604320
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Flexion contracture, Steppage gai... OMIM:607684
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... ORPHA:412066
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Distal muscle weakness, Ankle flexion contracture, Babinski sign, K... ORPHA:320370
Oculopharyngodistal Myopathy
Loss of ambulation, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weak... ORPHA:98897
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Distal muscle weakness, Babinski sign, Upper limb muscle weakness, Hammertoe, Hypertonia, Distal ... OMIM:182960
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... ORPHA:276244
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Hypotonia, Degenera... ORPHA:2254
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... OMIM:105500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Respiratory insufficie... OMIM:617087
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... ORPHA:101010
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... ORPHA:99948
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai... ORPHA:88628
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropat... OMIM:616668
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneratio... OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... OMIM:620068
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... OMIM:616437
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Proximal muscle weakness, Babinski sign, Ragged-red muscle fibers, Hypotoni... OMIM:500002
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Clonus, Spastic paraplegia, Scissor gait, Babinski sign, Hypertonia, Gai... OMIM:615686
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Respiratory insufficiency due to m... OMIM:618276
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity OMIM:611895
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Severe muscular hypotonia, Facial palsy, Spinal muscular atrophy, Re... OMIM:301830
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy,... OMIM:617018
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... OMIM:620249
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness OMIM:614808
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Proximal muscle weakne... OMIM:607706
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Distal ... OMIM:613710
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... ORPHA:497764
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... ORPHA:488594
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Distal muscle weakness, P... OMIM:616040
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w... OMIM:612069
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Arts Syndrome
Ataxia, Progressive muscle weakness, Optic atrophy, Tetraplegia, Spinal cord posterior columns my... OMIM:301835
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Distal muscle weakness, Spinal muscular at... OMIM:611067
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Onion bulb formation, Peripheral axonal neuropathy, Tibialis anterior musc... OMIM:615035
Spastic Paraplegia 31, Autosomal Dominant
Lower limb spasticity, Skeletal muscle atrophy, Spastic paraplegia, Babinski sign, Distal sensory... OMIM:610250
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:601472
Spastic Paraplegia 2, X-Linked
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... OMIM:312920
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Loss of ambulation, Muscle ... OMIM:613435
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal muscle weakness, Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Abnorm... OMIM:300489
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Genu recurvatu... OMIM:604168
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal muscle weakness, Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased ... OMIM:618279
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... OMIM:617892
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Distal muscle weakness, Postura... OMIM:270685
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Impaired distal vibration sen... ORPHA:276435
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Hypsarrhythmia, G... ORPHA:204
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Distal muscle weakness, Abnormal anterior horn cell mor... ORPHA:1145
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal muscle weakness, Distal sensory impairment, Hammertoe, Steppage gait, Gait disturbance, Di... OMIM:616625
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Talipes cavus equin... ORPHA:59135
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait, Muscle weakness OMIM:612539
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Ankle w... OMIM:118300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations OMIM:619141
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Decreased nerve... ORPHA:101078
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca... OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Impaired distal proprioception, Abnormal pyramidal sig... OMIM:616688
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot... OMIM:182980
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Torticollis, Ax... OMIM:607317
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Distal muscle weakness, Spinal muscular atrophy, Distal sensory imp... OMIM:614881
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Gowers sign, Axial muscle weakness, Knee flexion contracture, Steppage gait, Lower limb muscle we... OMIM:615290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... OMIM:157640
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... ORPHA:101075
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... ORPHA:100985
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in ce... OMIM:600795
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... ORPHA:139578
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... ORPHA:95434
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Limited wrist extension, Progressive muscle weakness, Weaknes... ORPHA:641
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... OMIM:617207
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... ORPHA:101085
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Unsteady gait, Babinski sign, Limb ataxi... ORPHA:1175
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... ORPHA:169186
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... ORPHA:139536
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... ORPHA:309169
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Tremor, Progressive muscle weakness, Generalized hypo... OMIM:615512
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal muscle weakness, Impaired distal vibration sensation, Distal amyotrophy, Steppage gait, Fo... OMIM:618036
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin... OMIM:158600
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morp... OMIM:611890
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Claw hand deformity, Impaired pain sensation, Impaired distal vibration sensat... OMIM:618511
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity ORPHA:401805
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... ORPHA:206594
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Proximal muscle weakness, Low... OMIM:615575
Desminopathy
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... ORPHA:98909
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic... OMIM:615025
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... OMIM:619519
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, P... ORPHA:99950
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Kypho... ORPHA:101081
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Hype... OMIM:611588
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Steppage gait, Tongue fasciculations, Foot dorsiflexor... OMIM:145900
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Muscle weakness, Gait ataxia ORPHA:401953
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Failure to thrive in ... ORPHA:254875
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, D... OMIM:615376
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal muscle weakness, Hand muscle weakness, Distal s... OMIM:608323
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif... ORPHA:423296
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... ORPHA:610
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hy... ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Dysmetr... OMIM:618387
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Hypotonia, Impair... OMIM:619216
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Gowers sign, Quadriceps muscle weakness, Type 1 muscle fiber predominanc... OMIM:620389
Huntington Disease-Like 2
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst... ORPHA:98934
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi... OMIM:615911
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:171863
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... OMIM:606777
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia, Scoliosis OMIM:213000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping OMIM:614369
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... OMIM:616756
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Gower... ORPHA:254361
Autosomal Recessive Spastic Paraplegia Type 74
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Distal amyotrophy... ORPHA:468661
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... ORPHA:98896
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:610100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:600794
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... OMIM:606070
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakne... OMIM:614409
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Waddling gait, Decreased number of peripheral myelinat... OMIM:609311
Spinocerebellar Ataxia 18
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... OMIM:607458
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... OMIM:608673
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of... ORPHA:370980
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness OMIM:205250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Pachygyria, Vertebral fusion, Facial palsy, Hyperlord... OMIM:606612
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop... ORPHA:99953
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Gowers sign, Flexion co... OMIM:609285
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Axial hypotonia, Ataxia, Proximal muscle weakness, Progr... OMIM:620166
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... ORPHA:178400
Autosomal Dominant Spastic Paraplegia Type 8
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, C... ORPHA:100989
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Autosomal Dominant Spastic Paraplegia Type 38
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Degeneration of the lateral c... ORPHA:171617
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... OMIM:616907
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Optic atrophy, Hypotonia, Spasticity, Failure ... ORPHA:772
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:100999
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... OMIM:608634
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Distal muscle weakness, Decreased distal sensory nerve action poten... OMIM:618400
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fasciculations, Abnormality of e... ORPHA:275864
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Dysequilibrium Syndrome
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Hypotonia, Gait disturbance ORPHA:1766
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Infantile axial hypotonia, Tremor,... ORPHA:521406
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Pseudoachondroplasia
Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Increased laxity of ankles... ORPHA:750
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency d... OMIM:610687
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... OMIM:302801
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... OMIM:615957
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... ORPHA:71277
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:613287
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... OMIM:270800
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... OMIM:164400
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Onion bulb formation, Skeletal muscle atrophy, Decreased nerve conduction velocity, O... OMIM:615284
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Generalized amyotro... ORPHA:401820
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Clinodactyly of the 5th finger, Short nose ORPHA:217340
Spastic Paraplegia 30, Autosomal Dominant
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... OMIM:610357
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Peripheral axonal neuropathy, Severe musc... OMIM:617519
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Cerebellar gliosis, Flexion contracture, Dysmetria, Gait ataxia, Steppage gait, Hypertoni... OMIM:616505
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Recurrent patellar dislocation, Capitate-hamate fusion, Short... OMIM:614078
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Respiratory insufficiency due to muscle we... ORPHA:2590
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosi... ORPHA:496689
Cerebrotendinous Xanthomatosis
Abnormal tibia morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal femur morpholog... ORPHA:909
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Spinocerebellar Ataxia Type 2
Postural tremor, Abnormal cortical gyration, Parkinsonism, Kinetic tremor, Chorea, Cerebellar Pur... ORPHA:98756
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spastic Paraplegia 45, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Optic atrophy,... OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607731
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... ORPHA:94124
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Distal muscle weakness, Ataxia, Proximal muscle weakness, Gowers sign, Babinski si... OMIM:617882
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu... OMIM:605726
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract... ORPHA:139399
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im... OMIM:607677
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... ORPHA:352675
Autosomal Dominant Spastic Paraplegia Type 37
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:171612
Myopathy, Myofibrillar, 6
Thoracic scoliosis, Distal muscle weakness, Scapular winging, Facial palsy, Spinal rigidity, Prox... OMIM:612954
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Distal muscle weakness, Peripheral axonal neuropathy, Proximal muscl... ORPHA:99939
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Gowers sign, Amyoplasia, Scapular w... OMIM:181405
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairme... OMIM:302802
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Proximal muscle wea... OMIM:617404
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares ORPHA:1450
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Progressive muscle we... OMIM:607426
Spastic Ataxia 9, Autosomal Recessive
Distal muscle weakness, Ataxia, Axial hypotonia, Impaired distal vibration sensation, Hoffmann si... OMIM:618438
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Hypotonia, Cerebral atrophy, Knee flexion... OMIM:616286
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Progressive proximal muscle weakness, Truncal ataxia, Cerebral atrophy, Myopathy, Hyperki... ORPHA:369847
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisi... ORPHA:330050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... ORPHA:1529
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, ... OMIM:618124
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Distal muscle weakness, Neck flexor weakness, Internally nucleated skele... ORPHA:178464
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Parkinsonism, F... ORPHA:1320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Riboflavin Transporter Deficiency
Optic disc pallor, Bulbar palsy, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor,... ORPHA:97229
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe... OMIM:619686
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... ORPHA:90117
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... OMIM:615157
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Kyphosis, Unsteady gait, Abnormal p... OMIM:617435
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Pseudobulbar paralysis, Gait distu... ORPHA:101006
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal... ORPHA:969
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Distal muscle weakness, Impaired pain sensation, Tremor, Splenomegaly, L... OMIM:616719
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at... OMIM:604360
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger OMIM:155050
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Impaired vibration sensation ... OMIM:270550
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... OMIM:162100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hyperlordosis, Pr... OMIM:600462
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, External ophthalmoplegia, Tremor, Unsteady gait, Babinski sign, Limb ataxia, ... OMIM:615768
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... OMIM:620323
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Spastic tetraplegia, Mul... ORPHA:599373
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Cerebral a... OMIM:617916
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Clonus, Ragged-red muscle fibers, Abnormal pyramidal sign, Dysmetria, Ax... OMIM:616479
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Rigidity, Babi... ORPHA:100984
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Generalized hypotonia, Abnor... ORPHA:98755
Rigid Spine Syndrome
Waddling gait, Hip contracture, Poor head control, Skeletal muscle atrophy, Hyperlordosis, Spinal... ORPHA:97244
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Proximal muscle weakness, Deg... ORPHA:320355
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... OMIM:254110
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal... OMIM:601455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607734
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... OMIM:600116
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal muscle weakness, Axonal degeneration/regeneration, Segmental peripheral demyelination/remy... OMIM:606483
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypotonia, Simplified gyral pattern OMIM:613402
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... OMIM:128230
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy, Generalized hypo... OMIM:619099
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Dysmetria, Chronic axonal neuropathy, Lower limb muscle weakness, Impair... ORPHA:88644
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism OMIM:600274
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Neurodege... OMIM:615643
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... ORPHA:363710
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Opti... OMIM:609541
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Distal muscle weakness, Congenital muscular torticollis, Ca... OMIM:158810
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... ORPHA:216873
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Limitation of movement at ankles, Skeletal m... ORPHA:100988
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Respiratory ... ORPHA:329336
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Spastic paraplegia, Gait disturbance, Talipes equinovarus, Spasticity OMIM:615683
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Total ophthalmoplegia, EEG abnormality, Abnormal muscle ... ORPHA:3095
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Abnormal pyramidal sign, Dysmetr... ORPHA:48431
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Broad-based gait, Di... OMIM:609033
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Proximal lower limb amyotrophy, Distal muscle weak... OMIM:600175
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decr... OMIM:607250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... ORPHA:2370
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Nonaka Myopathy
Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal... OMIM:605820
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Flexion contracture, Abnormal pyramidal sign, Choreoathetosis, Decreased... ORPHA:59
Developmental And Epileptic Encephalopathy 97
Poor head control, Tremor, Inability to walk, Hypotonia, Hypsarrhythmia OMIM:619561
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:607678
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Impaired pain sensation, Impaired temperature sensation, ... OMIM:619574
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Poor head control, Dystonia, Ataxia, Increased ne... ORPHA:79263
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Distal muscle weakn... OMIM:614298
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Huntington Disease
Caudate atrophy, Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Ge... ORPHA:399
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Scoliosis, Dystonia, Spasticity,... OMIM:500001
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Incoordination, Limb... ORPHA:309162
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Severe muscular hypotonia, Spinal rigidity, Kyphosis, Decreased compound muscl... OMIM:618323
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Dystonia, Atax... OMIM:609195
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Short palm, Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Small hand,... OMIM:610185
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Unsteady gait, A... ORPHA:98
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Scoliosis, Loss of ambul... OMIM:619518
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas... OMIM:183050
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere... ORPHA:306692
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Inability to walk, Hypotonia, Astrocytosis, Generalized hypotonia, Difficulty w... OMIM:611087
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, EEG abnormality, Axonal loss, Gait disturbance,... OMIM:221770
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Distal muscle weakness, Thoracolumbar scoliosis, F... OMIM:255600
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Limb ataxia, Dysmetria... OMIM:610743
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly ORPHA:221054
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Machado-Joseph Disease
Gliosis, Impaired vibratory sensation, Ataxia, Parkinsonism, External ophthalmoplegia, Distal amy... OMIM:109150
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Proximal muscle weakness, External op... ORPHA:254886
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes... OMIM:616924
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... ORPHA:2831
Machado-Joseph Disease Type 1
Cerebellar atrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Substantia nig... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Progressive external ophthalmoplegia, Skeletal muscle atrophy, Substantia nig... ORPHA:276241
Gemignani Syndrome
Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Impaired pain sensation ORPHA:2074
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Distal muscle weakness, Corp... OMIM:601162
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory... OMIM:255200
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... OMIM:608340
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Spasticity, Gait ata... ORPHA:466794
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Limb ataxia, Gait ataxia, Dysmetria, Gl... OMIM:213200
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t... ORPHA:457205
Combined Oxidative Phosphorylation Deficiency 45
Axial hypotonia, Ataxia, Short neck, Tremor, Failure to thrive, Muscle weakness OMIM:618951
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Sco... OMIM:618239
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak... OMIM:158590
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Optic atrophy, Hypotonia, Clumsin... OMIM:614707
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Hypotonia, Scoliosis, Cereb... ORPHA:1188
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... OMIM:617225
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... ORPHA:2589
Rhiny
Short nose, Anteverted nares OMIM:180360
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Cer... ORPHA:33445
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... OMIM:618618
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Paresthesia, Fasciculations, Muscle weakness ORPHA:85162
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... ORPHA:100070
Congenital Muscular Dystrophy, Ullrich Type
Short neck, Flexion contracture, Knee flexion contracture, Generalized amyotrophy, Generalized hy... ORPHA:75840
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Hypotonia, Distal sensory impairment, Facial diplegia,... OMIM:616287
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Axial hypotonia, Delayed peripheral myeli... ORPHA:464282
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... ORPHA:100993
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Unstead... OMIM:615919
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Vocal cord paralysis, Tongue fasciculations, Bulbar... OMIM:211530
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a... ORPHA:500180
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inabili... ORPHA:258
Non-Specific Early-Onset Epileptic Encephalopathy
Poor head control, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, ... ORPHA:442835
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Autosomal Recessive Spastic Paraplegia Type 5A
Impaired vibratory sensation, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, S... ORPHA:100986
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Facial palsy,... OMIM:128100
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... OMIM:216100
Pseudoachondroplasia
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... OMIM:177170
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... OMIM:300423
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... ORPHA:85166
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... ORPHA:99944
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Ataxia, Left ventricular hypertrophy, Spastic tetrapa... ORPHA:3208
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Dystonia, Dysme... ORPHA:313772
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Simplified gyral pattern, Elbow fl... OMIM:619470
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Autosomal Recessive Spastic Paraplegia Type 15
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign,... ORPHA:100996
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Ba... OMIM:210000
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... OMIM:616081
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Parkinsonism-Dystonia 2, Infantile-Onset
Poor head control, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Axial hypotonia, Trem... OMIM:618049
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spastic Paraplegia 20, Autosomal Recessive
Flexion contracture, Dysmetria, Lower limb muscle weakness, Distal amyotrophy, Upper limb spastic... OMIM:275900
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Pl... OMIM:230650
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Hypotonia, Dysmetria, Gait ataxia, ... OMIM:617810
Spinocerebellar Ataxia 2
Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Ophthalmopl... OMIM:183090
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Epilepsy, Progressive Myoclonic, 9
Short thumb, Simplified gyral pattern, Gait ataxia, Myoclonus, Scoliosis, Generalized amyotrophy,... OMIM:616540
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Distal lower limb... ORPHA:101076
Childhood-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Generalized hypotonia, Type 1 muscle fiber p... ORPHA:171439
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... OMIM:616921
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Proximal muscle weak... ORPHA:401768
Childhood-Onset Spasticity With Hyperglycinemia
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic atrophy, Spinal cord les... ORPHA:401866
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Scoliosis, Cerebra... ORPHA:306669
Seckel Syndrome 7
Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of th... OMIM:614851
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:605253
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... OMIM:610017
Winchester Syndrome
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Distal muscle weakness, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Proxima... OMIM:618655
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Proxim... OMIM:617760
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... OMIM:617974
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hand muscle atrophy, Chorea, Impaired proprioception, ... ORPHA:95
Immunoneurologic Disorder, X-Linked
Neonatal hypotonia, Progressive proximal muscle weakness, Spastic paraplegia, Small for gestation... OMIM:300076
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... OMIM:615924
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Peripheral axonal neuropathy, Spastic paraplegia, Distal sensory impairm... OMIM:263570
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Tremor, Cereb... OMIM:618637
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... ORPHA:93952
Syringomyelia, Noncommunicating Isolated
Lower limb spasticity, Unsteady gait, Babinski sign, Horner syndrome, Gait ataxia, Enlarged sagit... OMIM:186700
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Progressive muscle weakness, Flexion contracture, Knee flexion contra... ORPHA:2020
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Isaacs Syndrome
Weight loss, Distal sensory impairment, EEG abnormality, Calf muscle hypertrophy, Fasciculations,... ORPHA:84142
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Impaired proprioception, Flexion contracture, Dysmetria, Loss of ambulation, Inten... OMIM:615491
Myxopapillary Ependymoma
Abnormal sacrum morphology, Unsteady gait, Ependymoma, Abnormal conus terminalis morphology, Auto... ORPHA:251643
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Dystonia, R... OMIM:607136
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Scoliosis ORPHA:640
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Thoracic scolios... ORPHA:254930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, S... OMIM:619566
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Thoracic scoliosis, Writer's cramp, Fatigable weakness of distal limb muscle... ORPHA:324442
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Short neck, Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Park... OMIM:300055
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... OMIM:256840
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Somatic sensory dysfunction, Optic atrophy, Abnormal pyramidal sign, Progr... ORPHA:1177
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... OMIM:601152
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Hypotoni... OMIM:613204
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, External ophth... OMIM:612319
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Neuropathy, Congenital, With Arthrogryposis Multiplex
Broad-based gait, Distal muscle weakness, Proximal muscle weakness, Hyperlordosis, Babinski sign,... OMIM:162370
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... OMIM:617672
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Sensory axonal... OMIM:137200
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... ORPHA:2639
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Decreased nerve conduction velocity, Diaphragmatic paralysis, Hypotonia,... ORPHA:868
Cdkl5-Deficiency Disorder
Hallux valgus, Poor head control, Broad proximal phalanges of the hand, Impaired pain sensation, ... ORPHA:505652
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Poor head control, Cachexia, Spinal rigidity, Hyperlordosis, Flexion con... ORPHA:157973
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Hip dislocation, Hypot... OMIM:616471
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Distal muscle weakness, Abnormality of th