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, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
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Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... |
OMIM:618279 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... |
OMIM:601098 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Impaired distal pr... |
ORPHA:101097 |
Chronic Inflammatory Demyelinating Polyneuropathy |
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Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait... |
OMIM:620378 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
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Foot dorsiflexor weakness, Segmental peripheral demyelination/remyelination, Thenar muscle atroph... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Foot dorsiflexor weakn... |
OMIM:614436 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
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Distal lower limb amyotrophy, Impaired vibratory sensation, Impaired pain sensation, Distal senso... |
OMIM:615185 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
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Hand muscle atrophy, Peripheral axonal neuropathy, Hand muscle weakness, Distal sensory impairmen... |
OMIM:616280 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
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Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Inability t... |
ORPHA:482601 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
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Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Type 4A |
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Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Demyelinating motor neur... |
OMIM:615658 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Babinski sign, Knee flexion contrac... |
OMIM:615043 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
Charcot-Marie-Tooth Disease Type 4G |
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Decreased motor nerve conduction velocity, Impaired vibratory sensation, Peripheral axonal neurop... |
ORPHA:99953 |
Spastic Paraplegia 55, Autosomal Recessive |
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Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
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Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Upper limb mus... |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... |
OMIM:611228 |
Spinocerebellar Ataxia Type 43 |
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Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Peripheral axonal neurop... |
ORPHA:101077 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Upper... |
OMIM:608323 |
Neuronopathy, Distal Hereditary Motor, X-Linked |
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Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Abnormal peripheral nervous sy... |
OMIM:300489 |
Peroxisome Biogenesis Disorder 8B |
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Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
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Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:607706 |
Null Syndrome |
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Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... |
ORPHA:280234 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Impaire... |
OMIM:612335 |
Amyotrophic Lateral Sclerosis Type 4 |
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Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal... |
ORPHA:357043 |
Autosomal Spastic Paraplegia Type 30 |
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Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease Type 1A |
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Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal sensory impairment, Ac... |
ORPHA:101081 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
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Steppage gait, Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:616039 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
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Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... |
ORPHA:435387 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Somatic sensory dysfunction, Demy... |
ORPHA:99939 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Babin... |
OMIM:611105 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Distal sensory... |
ORPHA:99944 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... |
OMIM:607684 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... |
ORPHA:320370 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... |
ORPHA:219 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, ... |
OMIM:616282 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... |
ORPHA:99014 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Clonus, Spastic paraplegia, Scissor gait, Babinski sign, Hypertonia, Gai... |
OMIM:615686 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Soma... |
OMIM:612577 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... |
OMIM:615376 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Impaired pain sensation, Impaired distal proprioception, Han... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we... |
OMIM:302802 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... |
ORPHA:3115 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ... |
OMIM:600361 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Babinski sign, Tip-toe gait, Difficulty w... |
OMIM:615681 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Dista... |
OMIM:311070 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb mu... |
ORPHA:98916 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic... |
OMIM:615025 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... |
OMIM:302801 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... |
ORPHA:101085 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:618184 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Upp... |
OMIM:606595 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... |
ORPHA:139536 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tr... |
ORPHA:101078 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Chronic axonal neuropat... |
OMIM:182960 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin... |
OMIM:158600 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Impaired distal vibration sen... |
ORPHA:276435 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations... |
OMIM:618811 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Dista... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... |
OMIM:620068 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Foot dorsiflexor weakness, Distal sensory impairment, Distal amyotrophy, Steppage gait, Periphera... |
OMIM:607736 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... |
ORPHA:101075 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy,... |
OMIM:617018 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Distal sensory... |
OMIM:610250 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
OMIM:618912 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Upper limb muscle we... |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Onion bulb formation, Decreased nerve conduction velocity, Distal sensor... |
OMIM:615284 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Spinal muscular atrophy, Distal sensory impairment, Gait disturbanc... |
OMIM:614881 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Generalized amyotro... |
ORPHA:401820 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased compound muscle action potential a... |
OMIM:619112 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
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 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Abnormality of periphe... |
ORPHA:65684 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Knee flexion contracture, Tip-toe gait, D... |
ORPHA:401785 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Difficulty walking, Distal sens... |
OMIM:620111 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:613287 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d... |
OMIM:616155 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity |
ORPHA:401805 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... |
OMIM:249900 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... |
OMIM:605253 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Impaired pain sensation, Impaired tem... |
ORPHA:99940 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo... |
OMIM:182815 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Inability to walk, Tongue fasciculations, Ty... |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Impaired distal vibration sensation, Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness |
OMIM:618036 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Lower limb amyotrophy, Diffic... |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal amyotrophy, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:616625 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:612539 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Inability to walk, Babinski sign, Spastic paraple... |
OMIM:611225 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... |
OMIM:615048 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... |
OMIM:601455 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Inability to walk, Spastic paraplegia, Optic atrophy, Babinski sign... |
ORPHA:431329 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Postural tremor, Impaired distal proprioception, Thena... |
OMIM:270685 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... |
ORPHA:99950 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Decreased testicular s... |
OMIM:604168 |
Adult Krabbe Disease |
|
Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Ataxia, Clumsiness, Impair... |
ORPHA:206448 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, EEG abnormality, Axonal loss, Gait disturbance,... |
OMIM:221770 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppag... |
OMIM:607678 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Claw hand deformity, Lower limb muscle weakness, Impaired pain sensation, Impa... |
OMIM:618511 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Craniofacial dystonia... |
OMIM:620011 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... |
ORPHA:100998 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... |
ORPHA:247604 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity, Peroneal muscle weakness, Peroneal muscle atrophy, The... |
OMIM:614751 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... |
OMIM:604360 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly... |
OMIM:604320 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... |
OMIM:610357 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... |
ORPHA:100985 |
Spinocerebellar Ataxia Type 25 |
|
Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s... |
ORPHA:101111 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Peripheral axonal neuropat... |
OMIM:616668 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Broad-based gait, Fl... |
OMIM:609033 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... |
OMIM:500002 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait disturbance, N... |
OMIM:615643 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... |
OMIM:616687 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... |
OMIM:618404 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... |
ORPHA:488594 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased ner... |
ORPHA:101082 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment |
OMIM:605589 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... |
OMIM:618387 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... |
OMIM:605726 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Lower limb muscle weakness, Babinski sign... |
OMIM:616907 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Distal amyotrophy... |
ORPHA:468661 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... |
OMIM:619519 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy, Dy... |
OMIM:614932 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hy... |
OMIM:245200 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Lower limb muscle weakness, Dysmetria, Dysdiadochokin... |
OMIM:614487 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... |
DECIPHER:59 |
Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance |
ORPHA:1766 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... |
OMIM:617046 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Pe... |
OMIM:270550 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Inability to walk, Dela... |
OMIM:617854 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis |
ORPHA:2815 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... |
OMIM:617207 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Abnormal lower-limb motor evoked potentials,... |
ORPHA:444099 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Distal sens... |
OMIM:608895 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ... |
OMIM:601472 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Inabili... |
ORPHA:2596 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Distal sensory impairment, Axonal loss, Steppa... |
OMIM:614455 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Distal sensory impairment, Vestibular schwa... |
OMIM:613641 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... |
OMIM:616287 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal si... |
OMIM:607483 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia... |
ORPHA:101076 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Torticollis, Peripheral axonal neuropathy, C... |
OMIM:619686 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... |
OMIM:606070 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... |
ORPHA:88628 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Foot dorsiflexor weakness, Frequent fa... |
OMIM:619216 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Tremor |
ORPHA:1368 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... |
ORPHA:95434 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Optic atrophy, Spastic parap... |
OMIM:613162 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Dysmetri... |
OMIM:612674 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Truncal titubation, Babins... |
OMIM:610532 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Distal amyotrophy,... |
OMIM:618400 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Spastic paraplegia, B... |
ORPHA:139578 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Spastic dysarthria, EEG abno... |
ORPHA:313772 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... |
OMIM:162400 |
Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... |
OMIM:253550 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia |
OMIM:183050 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... |
OMIM:613672 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Scapuloperoneal a... |
OMIM:611067 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Distal lower limb amyotrophy, Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibrat... |
OMIM:616680 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... |
OMIM:271245 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
X-Linked Progressive Cerebellar Ataxia |
|
Distal lower limb amyotrophy, Unsteady gait, Babinski sign, Cerebellar vermis atrophy, Limb ataxi... |
ORPHA:1175 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping |
OMIM:614369 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Impaired dista... |
OMIM:616688 |
Gemignani Syndrome |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation |
ORPHA:2074 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Lowe... |
OMIM:613710 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... |
ORPHA:2589 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Impaired vibratory sensation, Somatic sensory dysfunction, Lower limb muscle weakn... |
OMIM:616924 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Sp... |
ORPHA:100988 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Chorea, Atrophy/Degeneration affect... |
ORPHA:98755 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Delayed myelinat... |
ORPHA:319514 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Demyelinating motor neuropathy, ... |
OMIM:608804 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo... |
OMIM:608030 |
Nonaka Myopathy |
|
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination, P... |
ORPHA:71211 |
Triose Phosphate-Isomerase Deficiency |
|
Central nervous system degeneration, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:868 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Gait disturbance |
OMIM:615683 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Babinski sign, Optic atro... |
OMIM:270800 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babi... |
ORPHA:100984 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Impaired temperature sensation, Peroneal muscle atrophy, Hand muscle weaknes... |
ORPHA:90658 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Frontotemporal cerebral atrophy, Gait disturbance, Difficulty walking, Lower limb muscle weakness... |
ORPHA:101001 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, C... |
ORPHA:171863 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ... |
ORPHA:254343 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Parkinsonism, Overweight, Inabilit... |
ORPHA:2822 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Foot dorsiflexor weaknes... |
ORPHA:98 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Pa... |
OMIM:611890 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:100999 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Head tremor... |
OMIM:613724 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... |
OMIM:613647 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degen... |
OMIM:162100 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Rimmed vacuoles |
OMIM:604454 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Babinski sig... |
ORPHA:513436 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Gait dist... |
OMIM:603472 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Wild Type Abeta2M Amyloidosis |
|
Dysesthesia, Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Axona... |
ORPHA:85446 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Hypogonadotropic hypogonadism, Dysmetria, ... |
ORPHA:48431 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski sign... |
ORPHA:496689 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio... |
OMIM:159550 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ... |
OMIM:169500 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Paresthesia |
ORPHA:640 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Inability to walk, Chorea, Optic ... |
ORPHA:95 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Sensory axonal... |
OMIM:137200 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co... |
OMIM:617519 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Distal amyotrophy, Abnormal... |
OMIM:609136 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Demyelinating moto... |
OMIM:616479 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Skele... |
OMIM:164400 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Decreased compound muscle action poten... |
OMIM:619279 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... |
ORPHA:330050 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Abnormal libido, Cerebral dysmyelination, Atrophy/Degeneration in... |
ORPHA:139399 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of ant... |
ORPHA:2254 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Impaired vibration sensation in... |
ORPHA:639 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ... |
ORPHA:137898 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, D... |
OMIM:609285 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Waddling gait, Ataxia, Babinski sign, Lower limb amyotrophy, Distal sensory impairment, Steppage ... |
OMIM:617882 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babins... |
OMIM:609195 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... |
ORPHA:464282 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign,... |
ORPHA:100996 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper moto... |
OMIM:500001 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodyst... |
OMIM:612319 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain... |
OMIM:608703 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... |
OMIM:617892 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abno... |
ORPHA:309162 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment,... |
OMIM:616719 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Premature ovarian insufficiency, Gait disturbance, Camptodac... |
ORPHA:2928 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakne... |
OMIM:620389 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... |
ORPHA:139480 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, Peripheral demyelination, CN... |
ORPHA:221091 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Peroneal muscle atrophy, Then... |
ORPHA:171617 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce... |
OMIM:256600 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... |
OMIM:620323 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Distal amyotrophy, Gait distu... |
ORPHA:909 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, C... |
OMIM:607596 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfun... |
ORPHA:98771 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired distal vibration sensation, Abnormal pyramidal sign, Dysmetria, B... |
OMIM:618438 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... |
OMIM:215470 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness, Optic neuropathy, Tib... |
ORPHA:320375 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra... |
OMIM:603511 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Paresthesia, Fasciculations |
ORPHA:85162 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... |
OMIM:616081 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d... |
ORPHA:391417 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... |
ORPHA:370980 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... |
OMIM:612020 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Corpus callosum atrophy, Decreased nerve conduction velocity, Cryptorchidism, ... |
ORPHA:565624 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal... |
OMIM:260600 |
Tangier Disease |
|
Peripheral axonal neuropathy, Impaired temperature sensation, Impaired pain sensation, Facial dip... |
OMIM:205400 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait distu... |
ORPHA:101006 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co... |
OMIM:256840 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Tremor, Corpus callosum atrophy, Impaired distal vibration sensation, Ba... |
OMIM:616586 |
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 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Gait ataxia, Tongue fasciculations, Head tremor, Foot ... |
ORPHA:99949 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Spasticity of facial muscles, Abnormal uppe... |
OMIM:606353 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... |
OMIM:238970 |
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 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Broad-based gait, Scapular winging, Lower limb spasticity, Spinal... |
OMIM:615290 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,... |
OMIM:500013 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, I... |
OMIM:618356 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormal peripheral myelination, Testicular dysgenesis, Pr... |
ORPHA:168563 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance... |
ORPHA:289560 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... |
ORPHA:496756 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy, Dystonia |
OMIM:203740 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Flexion contracture, Impaired proprioception, Hoffmann sign, Dysmetria, Loss of ambulation, Inten... |
OMIM:615491 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Peripheral axonal neuropathy, Di... |
ORPHA:276244 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Cerebellar atrophy,... |
ORPHA:88644 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins... |
ORPHA:506353 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Small for gestational age, Peripheral demyelin... |
OMIM:616733 |
Optic Atrophy 11 |
|
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... |
OMIM:617302 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Writer's cramp, Peroneal muscle atrophy, Flexion contracture, Weakness of lo... |
ORPHA:324442 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... |
ORPHA:2926 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Impaired vibration sensation ... |
ORPHA:352641 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ... |
ORPHA:401815 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... |
OMIM:300695 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Decreased nerve conduction velocity, EEG abnormality, Ga... |
ORPHA:812 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Dyst... |
OMIM:606002 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Small for gestational age, Failure to thrive in infancy, Delayed... |
ORPHA:59 |
Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, S... |
OMIM:300523 |
Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Parkinsonism, Difficulty walking, Spastic paraparesis, Oromandibula... |
ORPHA:397725 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal auto... |
ORPHA:97229 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia... |
ORPHA:329284 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,... |
ORPHA:478029 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Myopathy, Incr... |
ORPHA:397744 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Hand muscle weakness, Degener... |
ORPHA:320355 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab... |
OMIM:614399 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Flexion contracture, Babinski sign, Spastic paraplegia... |
OMIM:275900 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:100993 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Somatic sensory dysfunction, Optic atrophy, Abnormal pyramidal sign, Progr... |
ORPHA:1177 |
Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Optic a... |
ORPHA:544469 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Distal sensory impairment, Gait disturbanc... |
OMIM:263570 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Cryptorchidism, Decreased com... |
OMIM:301830 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Babinski sign, Cerebral atrophy, Choreo... |
OMIM:278800 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... |
OMIM:608358 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve... |
ORPHA:52430 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Distal sensory... |
OMIM:612954 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Gait disturbance, Dystonia |
OMIM:618239 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Resting tremor, Lower limb spasticity, Corpus callosum atrophy, Hof... |
OMIM:601162 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Scapular winging, Pelvic girdle muscle atrophy, Calf muscle pseudohypertrophy, Limb-girdle muscle... |
OMIM:604286 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... |
ORPHA:2821 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesi... |
OMIM:617481 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... |
ORPHA:36386 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Peripheral axonal neuropathy, Dupuytren cont... |
ORPHA:100991 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Optic atro... |
OMIM:616505 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon con... |
OMIM:606612 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dystonia |
OMIM:300857 |
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 |
Poliomyelitis |
|
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,... |
ORPHA:2912 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, H... |
ORPHA:298 |
Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, ... |
OMIM:603516 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia |
ORPHA:1933 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m... |
ORPHA:238329 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity |
OMIM:611895 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, A... |
OMIM:617710 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Failure to thrive, Myoclonus, Dysmetria |
OMIM:618251 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... |
OMIM:253600 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Brain... |
OMIM:618228 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Cednik Syndrome |
|
Hypogonadism, Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct... |
ORPHA:477817 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Cryptorchidism, Optic atrophy... |
OMIM:615419 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Dysesthesia, ... |
ORPHA:139417 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... |
ORPHA:99956 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... |
ORPHA:2590 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Unsteady gait, Impaired distal vibratio... |
OMIM:614871 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Cer... |
OMIM:619851 |
Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Cerebral atrophy, Spastic paraparesis, Decreased body weight |
OMIM:618721 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Spastic paraplegia, Babinski sign, Ab... |
ORPHA:459056 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Distal sensory... |
OMIM:616652 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ... |
ORPHA:280210 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls |
OMIM:616540 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Impaired vibratory sensation, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, L... |
ORPHA:100986 |
Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, Lower limb spasticity, EEG wit... |
ORPHA:98889 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Spasticity, Knee flexion co... |
ORPHA:3208 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Axial dystonia, Flexion contracture, Increased variabi... |
OMIM:619026 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment |
OMIM:300614 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Peripheral demyelina... |
OMIM:272200 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
Arachnoid Cyst |
|
Facial palsy, Inability to walk, Cranial nerve compression, Paraparesis, Slurred speech, Distal s... |
ORPHA:2356 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Corpus callosum atrophy, In... |
OMIM:617339 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D... |
OMIM:615217 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy |
OMIM:255600 |
Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... |
ORPHA:98911 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Abnormal autonomic nervous system ph... |
ORPHA:363722 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Parkinsonism, Rigidity... |
OMIM:183090 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Generalized dystonia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Dystonia... |
OMIM:620358 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ... |
OMIM:617070 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... |
OMIM:613640 |
Myopathy, Distal, 3 |
|
Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J... |
OMIM:610099 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Spastic Paraplegia 16, X-Linked |
|
Lower limb spasticity, Facial hypotonia, Lower limb muscle weakness, Babinski sign, Spastic parap... |
OMIM:300266 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Dista... |
OMIM:617183 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... |
ORPHA:254361 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Facial-lingual fascicu... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Facial-lingual fascicu... |
ORPHA:276241 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand trem... |
ORPHA:276198 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Fried Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap... |
OMIM:270700 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy |
OMIM:614116 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ata... |
OMIM:617695 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, EEG abnormality, Distal amyotrophy, Dyston... |
OMIM:618247 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Flexion co... |
OMIM:618186 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Flexion contracture, Optic atrophy, Uns... |
ORPHA:35069 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyeli... |
ORPHA:199343 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis |
ORPHA:480 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... |
OMIM:618323 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Torticolli... |
OMIM:181405 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ... |
OMIM:248800 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Obesity, Muscular dystr... |
ORPHA:459033 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Slurred speech, Dystonia |
OMIM:230650 |
Rigid Spine Syndrome |
|
Waddling gait, Skeletal muscle atrophy, Hip contracture, Elbow flexion contracture, Hamstring con... |
ORPHA:97244 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Small for gestational age, I... |
OMIM:612073 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... |
OMIM:243000 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ... |
OMIM:614153 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Leukodystrophy, Dyst... |
ORPHA:309263 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... |
ORPHA:1187 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Sensory ataxia, ... |
OMIM:616192 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, S... |
ORPHA:98673 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Corpus callosum atrophy, Babinski sign, Tetraplegia, Ti... |
ORPHA:447760 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Leukodystrop... |
ORPHA:309271 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Difficulty walking, ... |
ORPHA:171433 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Inability to walk, Babinski sign, Cerebral atrophy, CNS hypomyelination,... |
OMIM:616420 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Facial-lingual ... |
OMIM:109150 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... |
OMIM:157640 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic... |
ORPHA:255210 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Speech apraxia, Lower limb spasticity, Cerebellar atrophy, Postural tremor, Rigidity, Corpus call... |
ORPHA:412057 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low... |
OMIM:162210 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness in upper limbs, Calf muscle p... |
ORPHA:352479 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... |
OMIM:229300 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Decreased t... |
OMIM:615663 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Cerebral atrophy, Gait ataxia, CN... |
OMIM:103050 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa... |
OMIM:601287 |
Cog8-Cdg |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem... |
ORPHA:95428 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Impaired vibration sensation in the lower limbs, Proximal amyotrophy, Gait ataxia,... |
ORPHA:95433 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Cachexia, Gait apraxia, Gait ataxia, EEG abnormality, Truncal ... |
OMIM:312750 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Broad-based gait, Babinski sign, Distal amyotrophy, Arthrogryposis multiplex congenita, Spasticity |
OMIM:162370 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Gait imbalance, Loss of ambulation, Weakness of... |
ORPHA:329336 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... |
OMIM:602771 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Optic atrophy, Clumsiness, Generalized amyotrophy, Tongue fasciculations, L... |
OMIM:614707 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, H... |
OMIM:105210 |
Developmental And Epileptic Encephalopathy 86 |
|
Dystonia, Small for gestational age, Generalized amyotrophy, CNS hypomyelination |
OMIM:618910 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Motor conduction block |
ORPHA:641 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s... |
OMIM:615368 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance |
ORPHA:157973 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal CNS myel... |
OMIM:610651 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ... |
OMIM:616516 |
Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Myoclonus, Peripheral dysmyelination, Neuronal... |
OMIM:260565 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Failure to thrive, Ataxia, Optic atrophy, Distal sensory impairment, Fac... |
OMIM:613559 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Hyper... |
OMIM:252160 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac... |
ORPHA:521411 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased... |
ORPHA:86812 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... |
ORPHA:79139 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Leukodystrophy, Decreased body weight, Intention tremor, Ataxia, Overweight, ... |
OMIM:619475 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Aganglionic megacolon, Leukodystrophy, Spastic paraparesis |
OMIM:277580 |
Chediak-Higashi Syndrome |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance, Neurodegeneration, Foot do... |
OMIM:214500 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
Farber Disease |
|
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Brain atrophy, Spasticity, ... |
ORPHA:333 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive |
ORPHA:100 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, EEG abnormality, Cerebral cor... |
ORPHA:2047 |
Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, EEG abnormality, Gait dis... |
ORPHA:778 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, H... |
OMIM:620089 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ataxia, F... |
ORPHA:456312 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Dystonia |
OMIM:618244 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory e... |
OMIM:216400 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Tetraparesis,... |
OMIM:616827 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... |
ORPHA:845 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Myoclonic... |
OMIM:252150 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ... |
OMIM:608931 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Inability to walk, Babinski sign, CNS hypomyelination, Gait disturbance, D... |
ORPHA:280229 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu... |
OMIM:616867 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy... |
ORPHA:2388 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Optic atrophy, Decreased body weight |
ORPHA:477814 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Delayed CNS myelination, Rigidity, Inability to walk, Athetosis, Spastic... |
OMIM:257200 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... |
ORPHA:485421 |
L1 Syndrome |
|
Skeletal muscle atrophy, Aganglionic megacolon, Hemiplegia/hemiparesis, Gait disturbance, Spasticity |
ORPHA:275543 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Loss of ability to walk in first decade, Fle... |
OMIM:300243 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Optic atrophy, Cere... |
ORPHA:79282 |
Gaucher Disease, Type Iii |
|
Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight |
OMIM:231000 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin... |
OMIM:211530 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Optic atrophy, Myopathy, Hypertonia, Muscular dystroph... |
ORPHA:559 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Gait ata... |
ORPHA:496790 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Optic atrophy, Hemiparesis, Gait distu... |
ORPHA:395 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Paraparesis, Paraplegia, Hemiparesis, Leukodystrophy |
ORPHA:79124 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... |
OMIM:146500 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Progressive gait ataxia, Congenital contracture, Intention tremor, Ataxi... |
ORPHA:191 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate... |
OMIM:200150 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... |
ORPHA:79138 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Difficu... |
ORPHA:254875 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy, Ataxia, Gait disturbance |
OMIM:614863 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, CNS hypomye... |
OMIM:616239 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Ataxia, Severe demyelination of the white matter, Inability to walk, Fle... |
ORPHA:481152 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired ... |
OMIM:268800 |
Sialidosis Type 2 |
|
Tremor, Skeletal muscle atrophy, Flexion contracture, Ataxia |
ORPHA:87876 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor ... |
OMIM:619527 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturbance, Dystonia |
ORPHA:512 |
Lissencephaly 8 |
|
Appendicular spasticity, Cerebral hypomyelination, Optic atrophy, Skeletal muscle atrophy |
OMIM:617255 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Skeletal muscle atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ata... |
OMIM:617193 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonu... |
OMIM:614969 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy |
ORPHA:98896 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
Richards-Rundle Syndrome |
|
Distal amyotrophy, Hypertonia, Ataxia, Gait disturbance |
ORPHA:1399 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr... |
ORPHA:466722 |
Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Decreased n... |
OMIM:133540 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Tremor, Inability to walk, Atrophy of th... |
ORPHA:167 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized... |
OMIM:605013 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, ... |
OMIM:619272 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ... |
ORPHA:171881 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg... |
ORPHA:803 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, Unsteady gait, Hand tremor, Dysmetria, Truncal obesity, Flexion contractur... |
ORPHA:3041 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Dysesthesia, Progressive spastic parap... |
ORPHA:79093 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... |
OMIM:606071 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy, Dysmetria |
OMIM:615578 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Tongue fascic... |
OMIM:614678 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, ... |
ORPHA:496641 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Babinski sign, Slurred spe... |
ORPHA:101000 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... |
OMIM:617675 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia, Dystonia |
OMIM:105300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Small for gestational age, Tremor, Dysmetria, Truncal ataxia, Left ventricular ... |
OMIM:220111 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Delayed CNS myelination, Temporal cortical atrophy, Interictal epileptif... |
OMIM:618862 |
Congenital Myopathy 19 |
|
Facial hypotonia, Skeletal muscle atrophy, Congenital contracture, Gait disturbance |
OMIM:618578 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Ataxia, Small for gestation... |
OMIM:615471 |
Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Paraparesis, Abnormality of cervical plexus, Abnormality of the brac... |
ORPHA:449427 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Broad-based gait... |
OMIM:256810 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Foot joint contracture, Tremor, Cryptorchidism, Opti... |
ORPHA:90321 |
Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Joint contracture of the 5th finger, Tetraparesis, Spasticity |
OMIM:164200 |
Sjogren-Larsson Syndrome |
|
CNS demyelination, Spasticity, Flexion contracture, Spastic paraparesis |
OMIM:270200 |
Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Dystonia, Action tremor, Rigidity, Bradykinesia, Poor fine motor coordinati... |
ORPHA:309854 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di... |
OMIM:620080 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neurop... |
OMIM:612780 |
Wilson Disease |
|
Dystonia, Decreased nerve conduction velocity, Tremor, Hypoesthesia, Limb muscle weakness, Hand t... |
OMIM:277900 |
Kennedy Disease |
|
Skeletal muscle atrophy, Gait disturbance |
ORPHA:481 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Ataxia, Multifocal epileptiform discharges, Macroglossia, EEG abnormality, Arthro... |
ORPHA:369891 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
EEG abnormality, Gait disturbance, Myopathy, Skeletal muscle atrophy |
ORPHA:85329 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:618393 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Decreased muscle mass, Cerebral dysmyelination, Decreased nerve conduction ve... |
OMIM:261515 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Tremor, Unsteady gait, Cerebral atrophy, Myopathy, Dy... |
OMIM:615512 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Small for gestational age, Severe demyelination of the white matter, Delayed my... |
ORPHA:391408 |
Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking |
ORPHA:98895 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Gait disturbance |
ORPHA:2840 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Delayed CNS myelination, Failure to thrive |
OMIM:618603 |
Leigh Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary mov... |
ORPHA:506 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Delayed CNS myelination, Facial hypotonia, Chorea, Delayed myelination, Intri... |
OMIM:615273 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Deafness-Vitiligo-Achalasia Syndrome |
|
EEG abnormality, Skeletal muscle atrophy |
ORPHA:3239 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis |
ORPHA:42 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... |
OMIM:271225 |
Camurati-Engelmann Disease, Type 2 |
|
Waddling gait, Skeletal muscle atrophy, Knee flexion contracture, Hip contracture |
OMIM:606631 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Weight loss, Distal amyotrophy, Difficulty wal... |
OMIM:164310 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Gener... |
ORPHA:66634 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Delayed CNS myelination, Skeletal muscle atrophy, Ataxia, Flexion contracture,... |
OMIM:300232 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertonia, Opisthotonus |
OMIM:616896 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Limb joint contracture, Postural tremor, Fle... |
OMIM:301072 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Hypertonia, Ataxia |
ORPHA:31 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Inability to walk, Quadriceps muscle weakne... |
ORPHA:70 |
Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Spinal cord compression, Decreased nerve conduction velocity, Optic atrophy, Macrogl... |
ORPHA:580 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Dec... |
ORPHA:98915 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Slurred speech, Myoclonus, Dysmetria |
OMIM:256550 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Optic disc pallor, Peripheral axonal neuropathy, Flexion contracture, Un... |
ORPHA:90324 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity |
ORPHA:760 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... |
ORPHA:367 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Delayed CNS myelination, Babinski sign, Cerebral atrophy, Hypertonia, Sp... |
OMIM:615802 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Broad-based gait, Contractures of the large joints |
OMIM:616716 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Progressive sp... |
ORPHA:85323 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Dystonia, Extrapyramidal muscular rigidity, Tremor, Hemipl... |
ORPHA:51 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... |
OMIM:255125 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Melorheostosis |
|
Skeletal muscle atrophy, Failure to thrive |
ORPHA:2485 |
Refsum Disease |
|
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Hemiplegia/hemiparesis |
ORPHA:773 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Unsteady gait, Flexion contracture, Ragged-red muscle fibers, Rhabdomyol... |
ORPHA:17 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy |
OMIM:245400 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Skeletal muscle atrophy, Hip contracture, Shoulder flexion contracture, Quadriceps... |
OMIM:255800 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Cranial nerve compression, Optic nerve compression, Slend... |
OMIM:131300 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Failure to thrive, Multifocal epileptiform discharges, Cerebral atrophy |
OMIM:614300 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures |
ORPHA:2028 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic neuropathy, Ragged-... |
OMIM:252010 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Oculomotor apraxia, Skeletal muscle atrophy |
OMIM:619759 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:3242 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Facial pals... |
ORPHA:297 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction |
OMIM:612079 |
Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Aplasia/Hypoplasia of th... |
ORPHA:285 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Frontotemporal cerebral atroph... |
ORPHA:100070 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Postural hypote... |
OMIM:256800 |
Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Optic atrophy, Spastic paraparesis, Limb muscle weakness |
ORPHA:79241 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Macroglossia, Camptodactyly of finger |
ORPHA:93473 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Optic atrophy, Hypertonia, Gait disturbance, Progressive spasticity, Cer... |
ORPHA:192 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,... |
ORPHA:1344 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita |
OMIM:232500 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Argininemia |
|
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... |
OMIM:207800 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615704 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Arthrogryposis multipl... |
OMIM:618291 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Increased intramyocellular lipid drople... |
ORPHA:79102 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Optic atrophy, Calf m... |
OMIM:253800 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Friedreich Ataxia 2 |
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Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Ataxia, Abnorm... |
OMIM:601992 |
Epidermal Nevus Syndrome |
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Rhabdomyosarcoma, Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Wea... |
ORPHA:35125 |
Bohring-Opitz Syndrome |
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Failure to thrive, Flexion contracture, Delayed peripheral myelination, Camptodactyly |
OMIM:605039 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
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Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
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Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Leprosy |
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Skeletal muscle atrophy, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, A... |
ORPHA:548 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Skeletal muscle atrophy, Hemiplegia/hemiparesis |
ORPHA:156 |
3P25.3 Microdeletion Syndrome |
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Skeletal muscle atrophy, Ataxia, Knee flexion contracture |
ORPHA:435638 |
Oculodentodigital Dysplasia |
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Ataxia, Camptodactyly of finger, Optic atrophy, Gait disturbance, Spastic paraparesis, Spasticity |
ORPHA:2710 |
Sézary Syndrome |
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Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
Eales Disease |
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Optic disc pallor, Spastic paraparesis |
ORPHA:40923 |
12Q14 Microdeletion Syndrome |
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Tremor, Skeletal muscle atrophy, Failure to thrive |
ORPHA:94063 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
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Skeletal muscle atrophy, Cerebral palsy, Failure to thrive, Opisthotonus |
OMIM:210210 |
Oculogastrointestinal Muscular Dystrophy |
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Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Postpoliomyelitis Syndrome |
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Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Myotonia, Potassium-Aggravated |
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Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
Camurati-Engelmann Disease |
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Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Optic atrophy, Optic nerv... |
ORPHA:1328 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Skeletal muscle atrophy, Scapular winging, Inability to walk, Rhabdomyolysis, Increased intramyoc... |
ORPHA:26791 |
Carey-Fineman-Ziter Syndrome 1 |
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Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... |
OMIM:254940 |
Congenital Disorder Of Glycosylation, Type Iie |
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Cerebellar atrophy, Skeletal muscle atrophy, Delayed myelination, Cerebral atrophy, Failure to th... |
OMIM:608779 |
Borjeson-Forssman-Lehmann Syndrome |
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Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity |
ORPHA:127 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
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Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Incoordina... |
OMIM:223900 |
Trisomy 17P |
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Macroglossia, Skeletal muscle atrophy, Flexion contracture, Hypertonia |
ORPHA:261290 |
Facioscapulohumeral Dystrophy |
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Skeletal muscle atrophy |
ORPHA:269 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Skeletal muscle atrophy, Flexion contracture |
ORPHA:75496 |
Walker-Warburg Syndrome |
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Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Optic atrophy, Mu... |
ORPHA:899 |
Autosomal Recessive Multiple Pterygium Syndrome |
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Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:2990 |
Tbck-Related Intellectual Disability Syndrome |
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Skeletal muscle atrophy, Diastasis recti, Inability to walk, EEG with generalized epileptiform di... |
ORPHA:488632 |
Deafness, Congenital, With Vitiligo And Achalasia |
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Skeletal muscle atrophy |
OMIM:221350 |
Ruijs-Aalfs Syndrome |
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Skeletal muscle atrophy, Elbow flexion contracture, Decreased body weight |
OMIM:616200 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
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Skeletal muscle atrophy |
ORPHA:230839 |
Say-Barber-Miller Syndrome |
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Babinski sign, Elbow flexion contracture, Optic atrophy, Knee flexion contracture, Ankle clonus, ... |
ORPHA:3132 |
Split Cord Malformation |
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Paraparesis, Distal lower limb muscle weakness |
ORPHA:573278 |
Lethal Congenital Contracture Syndrome Type 1 |
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Skeletal muscle atrophy |
ORPHA:1486 |
Schwartz-Jampel Syndrome |
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Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle... |
ORPHA:800 |
Carey-Fineman-Ziter Syndrome |
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Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy |
ORPHA:1358 |
Osteogenesis Imperfecta, Type Xiii |
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Skeletal muscle atrophy, Decreased body weight |
OMIM:614856 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
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Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Donohue Syndrome |
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Severe failure to thrive, Skeletal muscle atrophy |
OMIM:246200 |
Native American Myopathy |
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Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital... |
ORPHA:168572 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i... |
ORPHA:642 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Skeletal muscle atrophy, Myositis, Failure to thrive |
OMIM:615934 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Failure to thrive, Delayed peripheral myelination |
ORPHA:364577 |
7Q31 Microdeletion Syndrome |
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Speech apraxia, Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
Bardet-Biedl Syndrome |
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Skeletal muscle atrophy, Obesity |
ORPHA:110 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormality of the tongue muscle, Inabilit... |
ORPHA:273 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Cerebral atrophy |
OMIM:618252 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Skeletal muscle atrophy, Truncal obesity |
OMIM:219080 |
Hereditary Folate Malabsorption |
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Skeletal muscle atrophy, Failure to thrive |
ORPHA:90045 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Increased body weight, Pelv... |
ORPHA:79240 |
Graft Versus Host Disease |
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Skeletal muscle atrophy, Myositis, Failure to thrive, Dupuytren contracture |
ORPHA:39812 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
Neu-Laxova Syndrome |
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Skeletal muscle atrophy, Flexion contracture, Opisthotonus, Muscular dystrophy, Aplasia/Hypoplasi... |
ORPHA:2671 |
Werner Syndrome |
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Skeletal muscle atrophy, Slender build |
ORPHA:902 |
Pituitary Adenoma 4, Acth-Secreting |
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Skeletal muscle atrophy, Abdominal obesity, Obesity |
OMIM:219090 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Skeletal muscle atrophy, Failure to thrive, Increased body weight, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
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Bilateral camptodactyly, Spastic paraparesis |
OMIM:619234 |
Frontometaphyseal Dysplasia 1 |
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Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Skeletal muscle atrophy, Small for gestational age, Flexion contracture, Optic atrophy, Poor coor... |
OMIM:309590 |
Moebius Syndrome |
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Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni... |
ORPHA:570 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Skeletal muscle atrophy, Myositis, Flexion contracture |
OMIM:619183 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:619743 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Decreased body weight |
ORPHA:89842 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Skeletal muscle atrophy, Failure to thrive |
OMIM:615895 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:109 |
Recon Progeroid Syndrome |
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Skeletal muscle atrophy |
OMIM:620370 |
Localized Scleroderma |
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Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Pontocerebellar Hypoplasia Type 7 |
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Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati... |
ORPHA:284339 |
Marden-Walker Syndrome |
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Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co... |
ORPHA:2461 |
Arthrogryposis And Ectodermal Dysplasia |
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Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt... |
OMIM:601701 |
Duane Retraction Syndrome |
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Blepharospasm, Skeletal muscle atrophy, Camptodactyly |
ORPHA:233 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Failure to thrive, Paresthesia |
ORPHA:3260 |
Congenital Myopathy 13 |
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Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int... |
OMIM:255995 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Failure to thrive, Truncal obesity |
OMIM:222700 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Skeletal muscle atrophy, Myopathy, Difficulty walking |
ORPHA:536545 |
Cystinosis, Nephropathic |
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Skeletal muscle atrophy, Failure to thrive in infancy, Cerebral atrophy, Weight loss, Myopathy |
OMIM:219800 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Weight loss |
OMIM:614162 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma |
ORPHA:647 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Macroglossia, Slender build |
ORPHA:828 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ... |
OMIM:259050 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Flexion contracture, Elbow f... |
OMIM:256040 |
Microphthalmia, Syndromic 2 |
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Flexion contracture, Spastic paraparesis, Contracture of the proximal interphalangeal joint of th... |
OMIM:300166 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Slender build, Cachexia |
ORPHA:558 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Decreased body weight, Failure to thrive, Abnor... |
ORPHA:79474 |
Leprechaunism |
|
Skeletal muscle atrophy, Failure to thrive, Decreased body weight |
ORPHA:508 |
Pierson Syndrome |
|
Skeletal muscle atrophy |
OMIM:609049 |