| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Decreased nerve conduction velocity, Difficulty walking, Abnormal nerve conduction velocity, Fall... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Tremor, Decreased number of peripheral myelinated nerve fibers, Clusters of ax... |
OMIM:607734 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens... |
OMIM:601098 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Hypertrophic nerve changes, Distal amyotrophy, Gait ataxia, Action tremor, Upper limb postural tr... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Peripheral hypomyelination, Decreased nerve conduction velocity, Distal sensory impairment, Gait ... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Sensory ataxia, G... |
OMIM:614895 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Steppage gait, D... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Babinski sign, Hypertonia, Decreased sensory nerve conduction velocity, Spasticity... |
OMIM:609260 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired proprioception, Impaired temperature sensation, Hypertrophic nerve changes, Abnormal mot... |
DECIPHER:29 |
| Null Syndrome |
|
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Demyel... |
ORPHA:280234 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Distal amyotrophy, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduct... |
OMIM:158580 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased distal sensory nerve action potential, Proximal muscle weakness in upper limbs, Distal ... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased sensory nerve conduction velocity, Difficulty walking, Distal sensory impairment, Axona... |
OMIM:608323 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Steppage gait, Distal sensory impairment, Peripheral axonal neuropathy, Facial palsy, Decreased n... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Babinski sign, Distal lower limb muscle weakness, Decreased compound muscle action potential ampl... |
OMIM:618279 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Lower limb amyotrophy, Am... |
ORPHA:90103 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis, Hand muscle weakness, Decreased motor nerve conduction velocity, Segmental ... |
OMIM:162500 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Distal lower limb muscle weakness, Peripheral axonal degeneration, Axonal degenera... |
OMIM:302800 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Steppage gait, Peripheral axonal neuropathy, Impaired distal vibration sensation, Impaired distal... |
OMIM:610100 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Distal sensory impairment, Waddling gait, Unsteady gait, Decreased nu... |
OMIM:609311 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Chaddock reflex, Babinski sign, Distal lower limb muscle weakness, Decreased compound muscle acti... |
OMIM:619112 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased distal sensory nerve action potential, Difficulty walking, Distal sensory impairment, G... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Distal s... |
OMIM:214400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Spasticity, Distal up... |
OMIM:620068 |
| Hereditary Motor And Sensory Neuropathy V |
|
Babinski sign, Hypertonia, Peripheral axonal neuropathy, Spasticity, Distal amyotrophy, Frequent ... |
OMIM:600361 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Demyelinating peripheral neuropathy, Distal upper limb amyotrophy, Tremor, Distal amyotrophy, Dec... |
ORPHA:101077 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Babinski sign, Abnormality of peripheral nerve conduction, Spasticity, Spastic par... |
ORPHA:431329 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Babinski sign, Claw hand deformity, Decreased compound muscle action potential amplitude, Distal ... |
OMIM:605726 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Steppage gait, Decreased sensory nerve conduction velocity, Distal sensory impairment, Broad-base... |
OMIM:145900 |
| Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Decreased nerve conduction velocity, Central nervous system degeneration... |
ORPHA:868 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Fasciculations, Lower limb amyotrophy, Triceps weakness, Spinal muscular atrophy, Weakness of the... |
OMIM:615575 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f... |
OMIM:615376 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased sensory nerve conduction velocity, Distal sensory impairment, Gait imbalance, Demyelina... |
ORPHA:101081 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb muscle weakness, Peripheral hypomyelination, Claw hand deformity, Decreased mot... |
OMIM:605285 |
| Optic Atrophy 2 |
|
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe... |
OMIM:118200 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Decreased nerve conduction velocity, Distal sensory impairment, Gait di... |
ORPHA:99944 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Peripheral axonal neuropathy, Spasticity, Tremor, Ataxia, Flexion contracture, Ske... |
OMIM:611105 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Babinski sign, Decreased nerve conduction velocity, Atrophy/Degeneration affecting the brainstem,... |
OMIM:618404 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia, ... |
OMIM:183050 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Demyelinating peripheral neuro... |
OMIM:612674 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Peroneal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Proximal m... |
ORPHA:98856 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Demyelinating motor neuropathy, Steppage gait, Decreased nerve conduction velocity, Demyelinating... |
ORPHA:99939 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Claw hand deformity, Fasciculations, Decreased motor nerve conduction ... |
OMIM:606595 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Steppage gait, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formati... |
OMIM:620378 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Abnormal cranial nerve morphology, Distal amyotrophy, Upper limb musc... |
OMIM:605253 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Elevated circulating creati... |
OMIM:160120 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe... |
OMIM:118220 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Difficulty walking, Impaired pain sensation, Decreased amplitude of sensory action potentials, Im... |
OMIM:618912 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Distal amyotrophy, Spastic para... |
OMIM:182815 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Steppage gait, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers,... |
OMIM:605588 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Upper motor neuron dysfunction, Amyotrophic lateral sclerosi... |
OMIM:612577 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers, P... |
OMIM:606482 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Decreased nerve conduction velocity, Tremor, Developmental cataract, Ataxia |
ORPHA:1368 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Steppage gait, Difficulty walking, Distal sensory impairment, Axonal degeneration/regeneration, O... |
OMIM:606483 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Demyelinating motor neuropathy, Lower limb spasticity, Lower limb a... |
OMIM:615658 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Spastic gait, Babinski sign, First dorsal interossei muscle atrophy, Lower limb spasticity, Dista... |
OMIM:612335 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Leukodystrophy, Optic... |
OMIM:614877 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Distal sensory impairment, Onion bulb formation |
OMIM:616039 |
| Monomelic Amyotrophy |
|
Fasciculations, Distal upper limb amyotrophy, Tremor, Degeneration of anterior horn cells, Abnorm... |
ORPHA:65684 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment |
OMIM:620111 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Thenar muscle atrophy, Distal lower limb amyotrophy, Hand tr... |
ORPHA:352675 |
| Spinocerebellar Ataxia Type 43 |
|
Limb ataxia, Distal lower limb muscle weakness, Progressive cerebellar ataxia, Cerebellar vermis ... |
ORPHA:497764 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Steppage gait, Distal sensory impairment, Impaired pain sensation, Axonal regeneration, Impaired ... |
OMIM:615185 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral atrophy, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Cerebellar at... |
OMIM:617672 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, Lo... |
OMIM:610532 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Fascicul... |
OMIM:600882 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Babinski sign, Lower limb amyotrophy, Upper limb muscle weakness, Spastic paraplegia, Lower limb ... |
OMIM:617046 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... |
ORPHA:276435 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Dystonia, Skeletal muscle atrophy, Cataract, Choreoathetosis... |
OMIM:614932 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Distal amyotrophy, Decreased amplitude of sensory action potentials... |
OMIM:608673 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated ner... |
OMIM:618184 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Tip-toe gait, Steppage gait, Difficulty walking, Decreased nerve conduction velocity, Gait imbala... |
ORPHA:435387 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Chronic axonal neuropathy, Demyelinating peripheral neuropat... |
ORPHA:99948 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Peroneal muscle weakn... |
ORPHA:101097 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental glaucoma, Paraparesis, Spastic paraplegia, Developmental cataract, Abnormality of p... |
ORPHA:101005 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:302801 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany... |
ORPHA:94090 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Apraxia, Neuronal loss in central nervous system, Paraparesis, Extrapyramidal d... |
OMIM:105550 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Thenar muscle atrophy, Perone... |
OMIM:614751 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Paraparesis, ... |
OMIM:302802 |
| Parkinsonism With Polyneuropathy |
|
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... |
OMIM:619279 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Tremor, Ataxia, Skeletal muscle atrophy |
ORPHA:101078 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Spastic gait, Babinski sign, Distal amyotrophy, Abnormality of the foot musculature, Hand muscle ... |
ORPHA:100998 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal amyotrophy, Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve condu... |
OMIM:601382 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy, Tremor, Parapares... |
ORPHA:99014 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Steppage gait, Difficulty walking, Distal sensory impairment, Decreased number of peripheral myel... |
OMIM:604563 |
| Roussy-Lévy Syndrome |
|
Limb ataxia, Babinski sign, Distal amyotrophy, Lower limb muscle weakness, Frequent falls, Gait a... |
ORPHA:3115 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Tremor, Ataxia, Distal lower li... |
ORPHA:101075 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Spastic gait, Babinski sign, First dorsal interossei muscle atrophy, Lower limb spasticity, Dista... |
OMIM:270685 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Spastic gait, Babinski sign, Lower limb spasticity, Cerebral cortical atrophy, Generalized amyotr... |
ORPHA:401820 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy,... |
OMIM:613287 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... |
OMIM:615157 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Gait ataxia, CNS demyelination, Loss of ambulation, Peripher... |
OMIM:249900 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, S... |
ORPHA:101082 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Impair... |
OMIM:607684 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral... |
DECIPHER:59 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Dysdiadochokinesis, Intention ... |
ORPHA:98890 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... |
OMIM:608340 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb muscle weakness, Lower limb amyotrophy, Triceps weakness, Frequent falls, Upper... |
ORPHA:482601 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Distal sensory impairment, Impaired distal proprioception, Peripheral axonal neuro... |
OMIM:607250 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f... |
OMIM:607641 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Fasciculations, Distal amyotrophy, Tremor, Spinal muscular atrophy, Proximal amyotrophy |
OMIM:182980 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... |
OMIM:601596 |
| Miyoshi Myopathy |
|
Distal lower limb muscle weakness, Tibialis anterior muscle atrophy, Calf muscle hypertrophy, Dis... |
ORPHA:45448 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Babinski sign, Hypertonia, Chronic axonal neuropathy, Distal amyotrophy, Upper limb muscle weakness |
OMIM:182960 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Steppage gait, Distal sensory impairment, Decreased compound muscle action potential amplitude, V... |
OMIM:613641 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Babinski sign, Acute rhabdomyolysis, Peripheral hypomyelination, Axonal degener... |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Ataxia, Skeletal muscle atrophy, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Tongue fasciculations, Fr... |
OMIM:162400 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic gait, Babinski sign, Skeletal muscle atrophy, Spastic paraplegia |
OMIM:612539 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Distal amyotrophy, Cerebellar atrophy, Spinal muscul... |
ORPHA:496756 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Loss of ambulat... |
OMIM:615284 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic p... |
OMIM:615043 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Distal sensory impairment, Gait disturbance, Onion bulb formation, Segmental perip... |
OMIM:311070 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Spastic gait, Babinski sign, Lower limb spasticity, Abnormal myelination, Hand tremor, Progressiv... |
ORPHA:401840 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... |
OMIM:607677 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Cataract, Optic disc pallor |
OMIM:165300 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Spastic dysarthria, Lower limb spasticity, Cerebral cortical atrophy, Abnormal myelination, Catar... |
ORPHA:401830 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Tibialis anterior mus... |
OMIM:615035 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Spastic gait, Babinski sign, Ankle flexion contracture, Spasticity, Poor fine motor coordination,... |
ORPHA:320370 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment,... |
OMIM:607731 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Scapular winging, Facial palsy, ... |
ORPHA:219 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Spastic gait, Babinski sign, Lower limb spasticity, Distal amyotrophy, Spastic paraplegia, Skelet... |
OMIM:610250 |
| Autosomal Spastic Paraplegia Type 30 |
|
Spastic gait, Babinski sign, Scissor gait, Lower limb spasticity, Distal amyotrophy, Leg muscle s... |
ORPHA:101010 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, A... |
OMIM:601455 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Steppage gait, Distal sensory impairment, Axonal degeneration, Impaired distal vibr... |
OMIM:614436 |
| Spinal Muscular Atrophy, Type Iii |
|
Limb fasciculations, Pelvic girdle muscle weakness, Tongue fasciculations, Distal amyotrophy, Spi... |
OMIM:253400 |
| Sandhoff Disease, Adult Form |
|
Fasciculations, Sensory axonal neuropathy, Spasticity, Tremor, Upper limb muscle weakness, Gait a... |
ORPHA:309169 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Distal amyotrophy, Upper limb muscle weakness, Segmental periph... |
OMIM:607791 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Distal... |
ORPHA:397946 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Skeletal muscle atrophy |
ORPHA:357043 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Foot joint contracture, Sen... |
ORPHA:457205 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Calf muscle hypertrophy, Tremor, Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:615048 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Cerebellar vermis atrophy, Distal amyotrophy, Tremor, Gait ataxia, Rigidity, Ataxia |
OMIM:617018 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... |
OMIM:601068 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| Dysequilibrium Syndrome |
|
Cataract, Ataxia, Cerebral palsy, Skeletal muscle atrophy |
ORPHA:1766 |
| Krabbe Disease |
|
Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Abnormal flash visual evoked pote... |
OMIM:245200 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Distal amyotrophy, Tremor, Limb muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, F... |
OMIM:118300 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Babinski sign, Hypertonia, Scissor gait, Clonus, Spastic paraplegia, Skeletal muscle atrophy |
OMIM:615686 |
| Spastic Paraparesis And Deafness |
|
Cataract, Spastic paraparesis, Tremor |
OMIM:312910 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Tremor, Fiber type grouping |
OMIM:614369 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Spastic gait, Babinski sign, Hoffmann sign, Lower limb spasticity, Fasciculations, Spasticity, Sk... |
OMIM:615681 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... |
OMIM:614561 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Spastic paraplegia, Babinski sign, Prolonged central motor conduction time, Skeletal muscle atrophy |
OMIM:616282 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Cerebral atrophy, Babinski sign, Optic atrophy, Demyelinating motor neuropathy, Sensory axonal ne... |
OMIM:608804 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Upp... |
ORPHA:139536 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Limb mu... |
OMIM:607458 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno... |
ORPHA:275872 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Distal sensory impairment, Waddling gait, Decreased compound muscle action potential amplitude, C... |
OMIM:616040 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Babinski sign, Sensory axonal neuropathy, Spasticity, Distal amyotrophy, Abnormal autonomic nervo... |
ORPHA:139578 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Dystonia, Peripheral demyelination |
OMIM:250850 |
| Lethal Congenital Contracture Syndrome 8 |
|
Peripheral hypomyelination, Distal amyotrophy, Facial diplegia, Vocal cord paralysis, Distal arth... |
OMIM:616287 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Babinski sign, Rimmed vacuoles, Scapular winging, EM... |
OMIM:617158 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Prolonged QT interval, Increased bone mineral density, Hypocalcemia, Myocl... |
ORPHA:36913 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Fasciculations, Optic nerve hypoplasia, Gait ataxia, Flexion contracture of finger, Decreased num... |
ORPHA:101085 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Spastic gait, Lower limb spasticity, Clonus, Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:401785 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Abnormality of the musculature of the lower limbs, Decreased nerve conduction velocity, Necrotizi... |
ORPHA:329478 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... |
OMIM:218000 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Upper limb muscle weakness, Thenar mus... |
OMIM:600794 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy |
ORPHA:1188 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tip-toe gait, EEG with generalized slow activity, Unsteady gait, Decreased number of peripheral m... |
ORPHA:2386 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Distal amyotrophy, Increa... |
OMIM:614487 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic gait, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Peripheral axonal neur... |
OMIM:610357 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Spasticity, Hypertonia, Scissor gait, Skeletal muscle atrophy |
ORPHA:401805 |
| Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Distal amyotrophy, Abnormal peripheral nervous system morphology, Spinal muscular atrophy |
OMIM:300489 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... |
OMIM:616053 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Bradykinesia, Limb ataxia, Hypomimic face, Torticollis, Abnormal nerve conduction velocity, Atrop... |
OMIM:619862 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Frontotemporal cerebral atrophy, Apraxia, Abnormality of extrapyramidal motor function, Spasticit... |
ORPHA:101001 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Distal lower limb muscle weakness, Lower limb amyotrophy, Demyelinating peripheral neuropathy, De... |
ORPHA:99950 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypotension, Rigidity, Tachycar... |
OMIM:145600 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Limb ataxia, Babinski sign, Lower limb spasticity, Gait ataxia, Ataxia, Skeletal muscle atrophy, ... |
ORPHA:488594 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Spasticity, Tremor, Dis... |
OMIM:607317 |
| Spinal Muscular Atrophy, Type Ii |
|
Tongue fasciculations, Spinal muscular atrophy, Skeletal muscle atrophy, Degeneration of anterior... |
OMIM:253550 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Distal sensory impairment, Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Intention tremor, Generalized amyotrophy, Progressive g... |
ORPHA:2589 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Babinski sign, Sensory axonal neuropathy, Increased variability in muscle fiber diameter, Decreas... |
OMIM:620542 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Babinski sign, Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Joint contractur... |
OMIM:611225 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Upper limb muscle weakness, Thenar mus... |
OMIM:601472 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Type 1 muscle fiber predominance, Decreased nerve conduction velocity,... |
ORPHA:319514 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Impaired proprioception, Decreased sensory nerve conduction velocity, Broad-based ... |
OMIM:609033 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Babinski sign, Lower limb spasticity, Spasticity, Distal amyotrophy, Leg muscle stiffness, Ataxia... |
ORPHA:100985 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... |
ORPHA:98769 |
| Dystonia 23 |
|
Writer's cramp, Torticollis, Axial dystonia, Myoclonus, Limb dystonia, Head tremor, Gait disturba... |
OMIM:614860 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Axonal degeneration, Peripheral axonal neuropathy, Vocal cord paralysis, Intrinsic hand muscle at... |
OMIM:615490 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Peripheral axonal neuropathy, Distal amyotrophy, Hand muscle weakness, Hand muscle atrophy, Foot ... |
OMIM:616280 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n... |
OMIM:618138 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia, Cataract |
OMIM:617133 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Babinski sign, Distal lower limb muscle weakness, Peroneal muscle weakness, Tibialis anterior mus... |
ORPHA:101076 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Weak grip, Distal upper limb amyotrophy, Di... |
OMIM:619519 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... |
OMIM:617087 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Enhancement of the C-reflex, EEG with polyspike wave complexes, Tremor, Myoclonus, Jerk-locked pr... |
OMIM:615127 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... |
OMIM:616687 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Oromandibular dystonia, Distal amyotrophy, Motor axonal neuropathy, Rigidity, Dysto... |
OMIM:615643 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Babinski sign, Hypertonia, Fasciculations, Incoordination, Distal amyotrophy, Gait ataxia, Intrin... |
OMIM:616688 |
| Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration sensation in t... |
OMIM:159550 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat... |
ORPHA:726 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Cerebellar vermis atrop... |
OMIM:270550 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Developmental cataract, Skeletal muscle atrophy |
OMIM:615683 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hemiplegia/hemiparesis, Spastic paraparesis, Ataxia |
ORPHA:2815 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Acute rhabdomyolysis, Peripheral hypomyelination, Flexion contracture of toe, Chorea, Microcornea... |
ORPHA:48431 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Cerebral atrophy, Tongue fasciculations, Peripheral axonal neuropathy, Flexion contracture, Catar... |
OMIM:619851 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Prolonged QT interval, Diaphyseal sclerosis, Increased bone mineral densit... |
ORPHA:94089 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Spastic gait, Babinski sign, Lower limb spasticity, Peripheral axonal neuropathy, Distal amyotrop... |
OMIM:256840 |
| Glut1 Deficiency Syndrome 1 |
|
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, EEG ab... |
OMIM:606777 |
| Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Distal amyotrophy, Decreased nerve conduction velocity |
OMIM:608895 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor, Leukodystrophy |
OMIM:618866 |
| Spinal Muscular Atrophy, Type Iv |
|
Type 1 muscle fiber predominance, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles... |
OMIM:271150 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Peripheral axonal neuropathy, Di... |
ORPHA:468661 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Global brain atrophy, Tongue fasciculations, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Sk... |
OMIM:618276 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio... |
OMIM:609115 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract, Distal lower limb amyotrophy |
ORPHA:73245 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebral atrophy, Facial diplegia, Cerebellar atrophy, Skeletal muscle atrophy, Distal arthrogryp... |
OMIM:616286 |
| Adult Krabbe Disease |
|
Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Spastic... |
ORPHA:206448 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Spastic gait, Babinski sign, Distal lower limb muscle weakness, Lower limb spasticity, Abnormal l... |
ORPHA:444099 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia, Skeletal muscle atrophy |
OMIM:158500 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Peripheral axonal neuropathy, Spasticity, Distal amyotrophy, Cerebellar atrophy, S... |
OMIM:617207 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, Myoclonus, Jerk-locke... |
OMIM:613608 |
| Spastic Paraplegia 2, X-Linked |
|
Spastic gait, Babinski sign, Optic atrophy, Lower limb spasticity, Spastic paraplegia, Skeletal m... |
OMIM:312920 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Fasciculations, Lower limb amyotrophy, Cerebellar atrophy, Upper limb muscle weakness, Congenital... |
ORPHA:466768 |
| Dystonia 27 |
|
Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo... |
OMIM:616411 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spastic dysarthria, Oculomotor apraxia, Demyelinating peripheral neuropathy, Spasticity, Dysdiado... |
ORPHA:313772 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Fasciculations, Tetraplegia, Proximal amyotrophy, Decreased number of periph... |
OMIM:604484 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Spastic gait, Babinski sign, Optic atrophy, Lower limb spasticity, Spastic paraplegia, Flexion co... |
OMIM:613162 |
| Mitochondrial Myopathy With Diabetes |
|
Babinski sign, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of ... |
OMIM:500002 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... |
OMIM:619216 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... |
OMIM:612736 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Lower-limb joint contracture, Peripheral axonal neuropathy, Skeletal muscle atrophy |
OMIM:613710 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic paralysis, Distal amyotro... |
OMIM:604320 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradykinesia, Hypomimic face, Pontocerebellar atrophy, Lower limb spasticity, Oromotor apraxia, S... |
OMIM:617854 |
| Spinocerebellar Ataxia 20 |
|
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor |
OMIM:608687 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ... |
ORPHA:464440 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Ataxia, Frequent falls |
OMIM:615945 |
| Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Chvostek sign, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Distal amyotrophy, Tremor, Ataxia |
OMIM:619099 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Babinski sign, Apraxia, Spasticity, Myoclonus, EEG abnormality, Axonal loss, Pe... |
OMIM:221770 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Abnormality of extrapyramidal motor function, Peripheral axonal neuropathy, Distal... |
ORPHA:320406 |
| Mast Syndrome |
|
Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos... |
OMIM:248900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Decreased number of peripheral myel... |
OMIM:607831 |
| Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia |
ORPHA:94086 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... |
ORPHA:521406 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic gait, Decreased nerve conduction velocity, Truncal ataxia, Spasticity, Dysdiadochokinesis... |
OMIM:238970 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Neuromyotonia, Fasciculations, Sensory axonal neuropathy, Skeletal muscle atrophy, Foot dorsiflex... |
OMIM:137200 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Intention tremor, Dystonia, Decreased motor nerve conduction velocity |
OMIM:613724 |
| Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Decreased nerve conduction velocity, Abnormal tendon morpholo... |
ORPHA:85446 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... |
ORPHA:71277 |
| Spinocerebellar Ataxia Type 1 |
|
Bradykinesia, Optic atrophy, Progressive cerebellar ataxia, Abnormal nerve conduction velocity, A... |
ORPHA:98755 |
| Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Spastic dysarthria, Progressive cerebellar ataxia, Facial myokymia, Gait ataxia, D... |
ORPHA:101111 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... |
OMIM:241520 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Spastic gait, Babinski sign, Optic atrophy, Astigmatism, Spastic dysarthria, Spasticity, Cerebell... |
OMIM:616680 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait |
OMIM:616921 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Gait disturbance |
ORPHA:2928 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic gait, Babinski sign, Lower limb spasticity, Knee clonus, Spastic paraplegia, Cerebral cor... |
OMIM:604360 |
| Primary Dystonia, Dyt13 Type |
|
Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu... |
ORPHA:98807 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Peripheral axonal neuropathy, Distal amyotrophy, Tremor, Limb m... |
OMIM:618387 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... |
OMIM:606693 |
| Ataxia, Sensory, 1, Autosomal Dominant |
|
Gait instability, worse in the dark, Impaired distal proprioception, Positive Romberg sign, Dyses... |
OMIM:608984 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral hypomyelination, Cerebral dysmyelination, Short-segment aganglionic megacolon, Demyeli... |
OMIM:609136 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Impaired distal ta... |
OMIM:618400 |
| Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Hypsarrhythmia, Spasticity, Tremor, EEG with focal epilepti... |
ORPHA:599373 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Babinski sign, Hypomimic face, Scissor gait, Lower limb spasticity, Abnormality of ... |
OMIM:260300 |
| Segawa Syndrome, Autosomal Recessive |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... |
OMIM:605407 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Babinski sign, Hypertonia, Truncal titubation, Chorea, Facial palsy, Craniofacial dystonia, Frequ... |
OMIM:607483 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Hoffmann sign, Babinski sign, Proximal muscle weakness in upper limbs, Distal lower limb muscle w... |
OMIM:620402 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Babinski sign, Hypomimic face, Resting tremor, Spasticity, Cogwheel rigidity, Parki... |
OMIM:300911 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Hypertonia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Babinski sign, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the bra... |
OMIM:271245 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations, Skeletal muscle atrophy |
ORPHA:85162 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Tremor, EMG: myopathic abnormalities, Increased variability ... |
ORPHA:397744 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Sensory axonal neuropathy, Tremor, Ataxia, Myoclonus, Dysmetria |
OMIM:612437 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis, Distal lower limb muscle weakness |
OMIM:608634 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification |
OMIM:618618 |
| Amyotrophic Lateral Sclerosis 28 |
|
Chaddock reflex, Babinski sign, Fasciculations, Rimmed vacuoles, Upper limb muscle weakness, Fibe... |
OMIM:620452 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic gait, Babinski sign, Optic atrophy, Lower limb spasticity, Lower limb amyotrophy, Lower l... |
OMIM:270800 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Lower limb spasticity,... |
ORPHA:320375 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Reduced bone mineral density, Writer's cramp, Fatigable weakness, Corti... |
ORPHA:428 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased sensory nerve conduction velocity, Gait disturbance, Ataxia, Decreased motor nerve cond... |
OMIM:603472 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Multiple joint contractures, Flexion contracture, Skeletal muscle atrophy |
OMIM:614915 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Babinski sign, Spasticity, Symmetric peripheral demyelination, Autonomic erectile dysfunction, Co... |
OMIM:169500 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Brain atrophy, Frontal cortical atrophy, Rimmed vacuoles, Scapular winging, Distal amyotrophy, Fa... |
OMIM:167320 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Ataxia, Myoclonus |
OMIM:615957 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Babinski sign, Decreased compound muscle action potential amplitude, Axonal degeneration, Distal ... |
OMIM:602433 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Tongue fasciculations, Tremor, Facial palsy, Spinal muscular... |
OMIM:159950 |
| Horner Syndrome, Congenital |
|
Paralysis, Congenital Horner syndrome, Heterochromia iridis |
OMIM:143000 |
| Primary Lateral Sclerosis, Juvenile |
|
Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli... |
OMIM:606353 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Babinski sign, Pontocerebellar atrophy, Oculomotor apraxia, Lower limb spasticity,... |
ORPHA:171629 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Chorea, Tetraplegia, Dystonia,... |
OMIM:250100 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Demyelinating motor neuropathy, Babinski sign, Ankle clonus, Progressive spasticity, Upper motor ... |
ORPHA:506353 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Babinski sign, Lower limb spasticity, Atrophy/Degeneration affecting the brainstem... |
OMIM:612319 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication... |
OMIM:314250 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Cerebral atrophy, Optic atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic ner... |
ORPHA:329284 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis, Distal lower limb muscle weakness |
OMIM:158590 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, EEG abnormality, Neurodegeneration |
OMIM:610951 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Torticollis, Lower limb spasticity, Peripheral axonal neuropathy, C... |
OMIM:619686 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Sp... |
OMIM:613672 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema |
ORPHA:140989 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus |
OMIM:614937 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... |
OMIM:611302 |
| Sialidosis Type 1 |
|
Decreased nerve conduction velocity, Tremor, Corneal opacity, Ataxia, Skeletal muscle atrophy, My... |
ORPHA:812 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Cerebral atrophy, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Lower limb sp... |
ORPHA:352641 |
| Gne Myopathy |
|
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... |
ORPHA:602 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Difficulty walking, Hypocalcemia, Fatigable weakness of swallowing muscles, Arrhyth... |
ORPHA:99845 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis, Axonal loss |
OMIM:300857 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus |
ORPHA:401901 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor |
OMIM:611092 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Limb-girdle muscle atrophy, Sensory axonal neuropathy, Limb-girdle muscle weakness... |
ORPHA:329314 |
| Dystonia, Dopa-Responsive |
|
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin... |
OMIM:128230 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia |
OMIM:618425 |
| Congenital Myopathy 10A, Severe Variant |
|
Tongue fasciculations, Diaphragmatic paralysis, Facial palsy, EMG: myopathic abnormalities, Muscl... |
OMIM:614399 |
| Tremor, Hereditary Essential, 1 |
|
Action tremor, Hand tremor, Postural tremor |
OMIM:190300 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Falls, Resting tremor, Elbow flexion contracture, Shuffling gait, Rigidity, Parkins... |
ORPHA:306692 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... |
OMIM:205100 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Cerebellar at... |
OMIM:618356 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Fasciculations, Spasticity, Achilles tendon contracture, Skeletal muscle atrophy, Ankle clonus |
OMIM:620323 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Plantar flexion contracture, Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic par... |
OMIM:620011 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Babinski sign, Proximal muscle weakness in upper limbs, Lower limb spasticity, Fasciculations, Sp... |
OMIM:613954 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Cerebral atrophy, Parkinsonism, Paralysis, Abnormal lower motor neuron morphology, Amyotrophic la... |
OMIM:105500 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Tremor, Torticollis, Myoclonus |
OMIM:159900 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... |
OMIM:256600 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Babinski sign, Lower limb spasticity, Sensory axonal neuropathy, Gait ataxia, Spastic paraplegia,... |
OMIM:616907 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Bethlem Myopathy 1A |
|
Ankle flexion contracture, Torticollis, Congenital muscular torticollis, Elbow flexion contractur... |
OMIM:158810 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, EEG with generalized epileptiform discharges, Myoclonus |
OMIM:616187 |
| Gemignani Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy |
ORPHA:2074 |
| Spinocerebellar Ataxia Type 20 |
|
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... |
ORPHA:101110 |
| Spinocerebellar Ataxia 10 |
|
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Dec... |
OMIM:603516 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... |
ORPHA:98762 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Demyelinating motor neuropathy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal am... |
OMIM:617519 |
| Amyotrophic Lateral Sclerosis 1 |
|
Fasciculations, Spasticity, Skeletal muscle atrophy, Degeneration of anterior horn cells, Amyotro... |
OMIM:105400 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... |
ORPHA:363710 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Hippocampal atrophy, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Tetrapar... |
OMIM:617892 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Spastic gait, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Lower limb muscle weak... |
ORPHA:171863 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertoni... |
ORPHA:254343 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Oculogyric crisis, Bradycardia, Hypocalcemia, Chorea, Extrapyramidal muscular rigid... |
ORPHA:94093 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic gait, Spastic dysarthria, Spasticity, Spastic tetraparesis, Skeletal muscle atrophy, Abno... |
ORPHA:247604 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... |
OMIM:213600 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Distal lower limb muscle weakness, Skeletal muscle atrophy |
OMIM:615025 |
| Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysdiadochokinesis, Intention tremor, Gait ataxia, Spastic paraparesis, ... |
ORPHA:423275 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Dystonia 28, Childhood-Onset |
|
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... |
OMIM:617284 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Developmental And Epileptic Encephalopathy 35 |
|
Cerebral atrophy, Brain atrophy, Limb tremor, Delayed CNS myelination, Cataract |
OMIM:616647 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Global brain atrophy, Sudanophilic leukodystrophy, Appendicular spasticity, Lower limb amyotrophy... |
OMIM:260600 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Cachexia, Decreased nerve conduction velocity, Ataxia |
ORPHA:1933 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal vibration sensation, Decreased number of peripheral myelinated nerve fibers, Impa... |
OMIM:607080 |
| Cerebellar Ataxia, Cayman Type |
|
Bradykinesia, Hypomimic face, Truncal ataxia, Cerebellar atrophy, Intention tremor, Gait ataxia, ... |
OMIM:601238 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Vocal cord pa... |
ORPHA:600 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Tetraplegia, Tremor, Spasticity, Corpus callosum atrophy, Spastic paraplegia, Cere... |
OMIM:616586 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hyperphenylalaninemia, Hypertonia, Tremor, Transient hyperphenylalaninemia |
OMIM:264070 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... |
ORPHA:216873 |
| Multifocal Motor Neuropathy |
|
Fasciculations, Weakness of long finger extensor muscles, Motor conduction block, Limb muscle wea... |
ORPHA:641 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduct... |
ORPHA:909 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal seventh cranial physiology, Limb fasciculations, Tremor, Upper limb muscle weakness, Abn... |
ORPHA:90117 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Steppage gait, Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Gait i... |
ORPHA:90658 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Babinski sign, Lower limb spasticity, Cerebral cortical atrophy, Dystonia, Skeletal muscle atroph... |
ORPHA:101006 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria |
OMIM:617917 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic gait, Babinski sign, Cerebral atrophy, Lower limb spasticity, Ankle clonus, Upper limb dy... |
OMIM:614409 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus |
OMIM:615768 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... |
ORPHA:611 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Sensory axonal neuropathy, Poor ... |
ORPHA:99947 |
| Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Optic atrophy, Spasticity, Athetosis, Upper motor neuron dysfunction, Dystonia, Ske... |
OMIM:500001 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Skeletal muscle atrophy |
OMIM:613402 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech |
OMIM:609161 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, Chorea, Tremor, Cerebellar ... |
OMIM:208920 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Spinocerebellar Ataxia 1 |
|
Limb ataxia, Babinski sign, Optic atrophy, Decreased sensory nerve conduction velocity, Progressi... |
OMIM:164400 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Central core regions in muscle fibers, Progressive extrapyramidal muscular rigidit... |
ORPHA:401768 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Tongue fasciculations, Spastic tetraparesis, Spinal muscular atrophy, Cerebral cortical atrophy, ... |
OMIM:616081 |
| Nemaline Myopathy 6 |
|
Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Myopathy |
OMIM:609273 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... |
ORPHA:251282 |
| Myopathy And Diabetes Mellitus |
|
Babinski sign, Progressive cerebellar ataxia, Peripheral axonal neuropathy, Weakness of orbicular... |
ORPHA:2596 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Interictal epileptiform activity, Tremor, Myoclonus |
OMIM:615400 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Spasticity, Optic atrophy, Lower limb muscle weakness |
OMIM:620312 |
| Corticobasal Syndrome |
|
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... |
ORPHA:454887 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cerebral atrophy, Babinski sign, Decreased nerve conduction velocity, Leg dystonia, Lower limb sp... |
ORPHA:565624 |
| Cataract 11, Multiple Types |
|
Cataract, Chorea, Hypertonia, Developmental cataract |
OMIM:610623 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Sensory axonal neuropathy, Tongue fasciculations, Involuntary movements, Increased variability in... |
ORPHA:238329 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... |
OMIM:617280 |
| Adrenoleukodystrophy |
|
Limb ataxia, Incoordination, Truncal ataxia, Paraparesis, Spastic paraplegia, Neurodegeneration, ... |
OMIM:300100 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Frequent falls, Dystonia, Myoclonus |
OMIM:619647 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Friedreich Ataxia |
|
Limb ataxia, Babinski sign, Optic atrophy, Chorea, Spasticity, Poor fine motor coordination, Sens... |
ORPHA:95 |
| Myopathy, Distal, 4 |
|
Distal upper limb amyotrophy, Thenar muscle weakness, Skeletal muscle atrophy, Distal lower limb ... |
OMIM:614065 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... |
ORPHA:314978 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici... |
ORPHA:309263 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Claw hand deformity, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Distal lower limb a... |
OMIM:614455 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Generalized limb muscle atrophy, Lower limb spasticity, Atrophy of the spinal cord... |
ORPHA:139480 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, T... |
OMIM:615924 |
| Tangier Disease |
|
Peripheral axonal neuropathy, Distal amyotrophy, Facial diplegia, Left ventricular hypertrophy, O... |
OMIM:205400 |
| Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
| Atrial Standstill |
|
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... |
ORPHA:1344 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... |
ORPHA:314632 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Generalized limb muscle atrophy, Abnormality of pattern visual evoked potentials, Orthostatic hyp... |
ORPHA:2822 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis |
ORPHA:27 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Steppage gait, Distal sensory impairment, Positive Romberg sign, Abnormality of vi... |
OMIM:601152 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11 |
|
Steppage gait, Difficulty walking, Decreased compound muscle action potential amplitude, Broad-ba... |
OMIM:620528 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Tremor, Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia,... |
ORPHA:330050 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... |
ORPHA:178464 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Cerebellar atrophy, Spastic tetraparesis, Clonus, Cerebral cortical atrophy, Joint... |
OMIM:617481 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Babinski sign, Lower limb spasticity, Spastic paraplegia, Skeletal muscle atrophy, Postural tremor |
ORPHA:100988 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Babinski sign, Proximal muscle weakness in upper limbs, Lower limb spasticity, Lower limb amyotro... |
ORPHA:496689 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Tongue fasciculations, Tetraplegia, Involuntary movements, Skeletal mus... |
OMIM:300816 |
| Calciphylaxis |
|
Hyperphosphatemia, Ectopic ossification |
ORPHA:280062 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cerebral atrophy, Cerebellar vermis atrophy, Spasticity, Spastic tetraparesis, Delayed CNS myelin... |
OMIM:616154 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Spastic gait, Babinski sign, Limb ataxia, Lower limb spasticity, Lower limb amyotrophy, Abnormal ... |
ORPHA:100999 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici... |
ORPHA:309256 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Osteoporosis |
OMIM:612462 |
| Prune1-Related Neurological Syndrome |
|
Cerebral atrophy, Optic atrophy, Tongue fasciculations, Spastic tetraparesis, Cerebellar atrophy,... |
ORPHA:544469 |
| Optic Atrophy 11 |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Brain atrophy... |
OMIM:617302 |
| Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia |
|
Spastic gait, Babinski sign, Paroxysmal dyskinesia, Distal lower limb muscle weakness, Peripheral... |
OMIM:620538 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp... |
OMIM:617994 |
| Urocanase Deficiency |
|
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria |
OMIM:276880 |
| Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity, Distal sensory impairment, Broad-based gait, Demyelinating p... |
OMIM:616652 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Hyper... |
OMIM:239000 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal... |
ORPHA:2926 |
| Spinocerebellar Ataxia 12 |
|
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Facial myokymia, Head tremor, ... |
OMIM:604326 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Limb ataxia, Pontocerebellar atrophy, Chronic axonal neuropathy, Oculomotor apraxia, Chorea, Dist... |
OMIM:606002 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... |
ORPHA:79262 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebral atrophy, Babinski sign, Spastic dysarthria, Lower limb spasticity, Abnormal tendon morph... |
ORPHA:320391 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Loss of a... |
OMIM:614018 |
| Tremor, Hereditary Essential, 5 |
|
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Demyelinating motor neuropathy, Distal amyotrophy, Demyelinating sensory neuropathy |
ORPHA:639 |
| Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, ... |
ORPHA:324588 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Trigeminal Neuralgia |
|
Cranial nerve compression, CNS demyelination, Somatic sensory dysfunction, Peripheral demyelinati... |
ORPHA:221091 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Reduced bone mineral density, Prolonged QT interval, Hypocalcemic seizures, Increased... |
ORPHA:79443 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:610297 |
| Neurofibromatosis, Familial Spinal |
|
Spinal neurofibroma, Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibro... |
OMIM:162210 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... |
OMIM:618655 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic nervous system phy... |
OMIM:300894 |
| Primary Dystonia, Dyt2 Type |
|
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... |
ORPHA:99657 |
| Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis... |
ORPHA:98757 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb spasticity, Demyelinating peripheral neu... |
ORPHA:98 |
| Developmental And Epileptic Encephalopathy 97 |
|
Hypsarrhythmia, Tremor |
OMIM:619561 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... |
OMIM:300423 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Babinski sign, Tremor, Gait ataxia, CNS demyelination, Dysmetria |
OMIM:610245 |
| Friedreich Ataxia |
|
Limb ataxia, Optic atrophy, Decreased sensory nerve conduction velocity, Impaired proprioception,... |
OMIM:229300 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co... |
OMIM:201300 |
| Dystonia 12 |
|
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism |
OMIM:128235 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... |
OMIM:600116 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... |
OMIM:617030 |
| Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Diffuse... |
ORPHA:363654 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb muscle weakness, Distal amyotrophy, Elbow flexion contracture, Spinal muscular ... |
OMIM:600175 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Caribbean Parkinsonism |
|
Bradykinesia, Orthostatic hypotension, Apraxia, EMG: myopathic abnormalities, Abnormal autonomic ... |
ORPHA:97355 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper... |
ORPHA:99956 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Babinski sign, Fasciculations, Spasticity, Distal amyotrophy, Abnormal pyramidal sign, Abnormal l... |
OMIM:602099 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Hand tremor, Neurodegen... |
OMIM:615889 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Chorea, Spasticity, Decerebrat... |
ORPHA:309271 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Difficulty walking, Distal sensory impairment, Inability to walk, Peripheral axona... |
ORPHA:254930 |
| Amyotrophic Lateral Sclerosis 21 |
|
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Rimmed vacuoles, Hand mus... |
OMIM:606070 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Decreased compound muscle action potential amplitude, Tongue fasciculations, Facial palsy, Spinal... |
OMIM:301830 |
| X-Linked Adrenoleukodystrophy |
|
Paralysis, Incoordination, Paraparesis, Leg muscle stiffness, Hemiparesis, Progressive spastic pa... |
ORPHA:43 |
| Nathalie Syndrome |
|
Cataract, Skeletal muscle atrophy |
OMIM:255990 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Joint contracture, Abnormal pyramidal sign, Skeletal muscle atrophy, Spastic tetra... |
OMIM:615419 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Spastic gait, Lower limb spasticity, Lower limb amyotrophy, Hand muscle weakness, Degeneration of... |
ORPHA:320355 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased sensory nerve conduction velocity, Axial dystonia, Spastic paraplegia, Increased variab... |
OMIM:619026 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Ataxia |
ORPHA:67047 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Babinski sign, Sensory axonal neuropathy, Distal amyotrophy, Exaggerated startle r... |
OMIM:609541 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Spasticity, Tremor, Ataxia, Delayed CNS myelination |
OMIM:300983 |
| Primary Lateral Sclerosis |
|
Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Atrophy of the spinal cord, Upper mo... |
ORPHA:35689 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Limb mus... |
OMIM:619473 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Spasticity, Tremor, Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Tetrapa... |
OMIM:620546 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Babinski sign, Cerebral atrophy, Optic atrophy, Lower limb spasticity, Fasciculati... |
OMIM:615491 |
| Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Hypermanganesemia, Tip-toe gait, ... |
OMIM:617013 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Limb ataxia, Babinski sign, Lower limb spasticity, Lower limb amyotrophy, Truncal ataxia, Atrophy... |
ORPHA:100986 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Supraventricular tachycardia, Premature ventricular contraction, Elevated creatine ... |
ORPHA:423 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Orthostatic hypotension, Resting tremor, Parkinsonism with favorable response to do... |
OMIM:616710 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Abnormality... |
ORPHA:98763 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia, Lower lim... |
OMIM:600363 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Type 1 muscle fiber predominance, Shoulder flexion contracture, Tremor, Nemaline bodies, Hip cont... |
OMIM:605355 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Fasciculations, Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral... |
OMIM:608030 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Steppage gait, Distal sensory impairment, Inability to walk, Gait imbalance, Trophic changes rela... |
ORPHA:36386 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... |
OMIM:607876 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Tremor, Ataxia, Myoclonus, CNS hypomyelination, Leukodystrophy |
OMIM:616494 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis |
OMIM:241410 |
| Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia |
ORPHA:66631 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... |
OMIM:164500 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Hoffmann sign, Babinski sign, Cerebellar vermis atrophy, Spasticity, Distal amyotrophy, Frequent ... |
OMIM:618438 |
| Ataxia With Vitamin E Deficiency |
|
Hypertonia, Dysdiadochokinesis, Tremor, Hypertrophic cardiomyopathy, Gait disturbance, Hemiplegia... |
ORPHA:96 |
| Atypical Juvenile Parkinsonism |
|
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... |
ORPHA:391411 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Spastic gait, Lower limb spasticity, Spastic paraplegia, Ataxia, Parkinsonism, Spastic paraparesi... |
OMIM:613647 |
| Hsd10 Disease |
|
Frontotemporal cerebral atrophy, Optic atrophy, Tremor, Rigidity, Ataxia, Myoclonus, Spastic para... |
ORPHA:391417 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,... |
OMIM:618587 |
| Amyotrophic Lateral Sclerosis 18 |
|
Fasciculations, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:614808 |
| Multiple Sulfatase Deficiency |
|
Cerebral atrophy, Spasticity, Cerebellar atrophy, Corneal opacity, CNS demyelination, Ataxia, Per... |
OMIM:272200 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Progressive cerebellar ataxia, Sensory axonal neuropathy, Dysdiadochokinesis, Trem... |
ORPHA:254881 |
| Machado-Joseph Disease Type 3 |
|
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... |
ORPHA:276244 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Increased bone mineral density, Hypocal... |
ORPHA:79444 |
| Urocanic Aciduria |
|
Abnormal circulating histidine concentration, Broad-based gait, Truncal ataxia, Gait ataxia, Acti... |
ORPHA:210128 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Spastic gait, Demyelinating peripheral neuropathy, Distal amyotrophy, Basal lamina onion bulb for... |
ORPHA:2821 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Phenylketonuria |
|
Osteopenia, Lower limb spasticity, Hyperphenylalaninemia, Tremor, Ataxia |
ORPHA:716 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Babinski sign, Lower limb spasticity, Abnormality of extrapyramidal motor function, Demyelinating... |
ORPHA:100996 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia |
OMIM:211900 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Hypomimic face, Babinski sign, Spasticity, Facial diplegia, Cerebellar atrophy, CNS hypomyelinati... |
OMIM:618186 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Babinski sign, Lower limb amyotrophy, Ragged-red muscle fibers, Sensory a... |
OMIM:616924 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Chorea, Head titubation, Ataxia, Opisthotonus, Amyotrophic lateral ... |
ORPHA:300605 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Tremor, Hyperphenylalaninemia, Dystonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Tremor, Facial palsy, Abnormal autonomic nervous system physio... |
ORPHA:97229 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosi... |
OMIM:612438 |
| Amyotrophic Lateral Sclerosis 8 |
|
Fasciculations, Neuronal loss in central nervous system, Distal amyotrophy, Proximal amyotrophy, ... |
OMIM:608627 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa... |
OMIM:243000 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cerebral atrophy, Optic atrophy, Abnormality of extrapyramidal motor function, Increased neuronal... |
OMIM:204200 |
| Spinocerebellar Ataxia 25 |
|
Babinski sign, Oculomotor apraxia, Cerebellar atrophy, Facial myokymia, Ataxia, Decreased number ... |
OMIM:608703 |
| Amyotrophic Lateral Sclerosis 9 |
|
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Bradykinesia, Hypomimic face, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogy... |
OMIM:613135 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Cardiac arrest, Ataxia |
OMIM:618951 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Interosseus muscle atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Spinal muscular... |
OMIM:607088 |
| Spinocerebellar Ataxia Type 18 |
|
Peripheral axonal neuropathy, Titubation, Head tremor, Gait ataxia, Skeletal muscle atrophy, Dysm... |
ORPHA:98771 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Generalized limb muscle atrophy, Distal lower limb muscle weakness, Progressive ce... |
ORPHA:466794 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Paroxysmal dyskinesia, Congestive heart failure, Limb hypertonia, Resting tremor, Chorea, Involun... |
OMIM:606703 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Tremor, EMG: myopathic abnormalities, Hip contracture, Proximal amy... |
ORPHA:98902 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Limb ataxia, Fasciculations, Tongue fasciculations, Distal amyotrophy, Demyelinating peripheral n... |
OMIM:607596 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Abnormal peripheral nerve morphology by anatomical site, Axonal degenera... |
ORPHA:88628 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Peripheral demyelination |
OMIM:616733 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Tongue fasciculations, Distal amyotrophy, Demyelinating peripheral neuropathy, Cer... |
ORPHA:99949 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebral atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Atrophy/Degeneratio... |
OMIM:616192 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy... |
OMIM:617916 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Cerebral atrophy, Hypertonia, Lens luxation, Myoclonic spasms, Ectopia lentis, Diffuse cerebral a... |
OMIM:252160 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron m... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Fasciculations, Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal lower motor neuron m... |
OMIM:616437 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract, Myopathy |
OMIM:613076 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... |
OMIM:613204 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia, Delayed CNS myelination |
OMIM:616421 |
| Poliomyelitis |
|
Hyperkinetic movements, Fasciculations, Hypoplasia of the musculature, Abnormal skeletal muscle m... |
ORPHA:2912 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Spasticity, Cerebellar atroph... |
ORPHA:485421 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... |
ORPHA:206549 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Bradykinesia, Babinski sign, Hypomimic face, Writer's cramp, Chorea, Spasticity, Tremor, Blepharo... |
OMIM:606159 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Reduced bone mineral density, Hypophosphatemic rickets, Increased circulating beta-C-terminal tel... |
ORPHA:157215 |
| Myosclerosis, Autosomal Recessive |
|
Neck joint contracture, Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy |
OMIM:255600 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... |
OMIM:617145 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Babinski sign, Distal lower limb muscle weakness, Distal amyotrophy, Atrophy of the spinal cord, ... |
OMIM:612020 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, EEG abnormality |
OMIM:617836 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Hypomimic face, Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Abnormal autonomic... |
OMIM:618049 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria |
OMIM:617810 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Optic atrophy, EEG with focal epileptiform discharges, Spinal cord posterior columns myelin loss,... |
ORPHA:1187 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Dystonia, Skeletal muscle atrophy |
OMIM:618244 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Dystonia, Myoclonus |
OMIM:619651 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Babinski sign, Astigmatism, Temporal optic disc pallor, Spasticity, Titubation, Spastic paraplegi... |
ORPHA:459056 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Loss of ambulation, Facial palsy, Waddling gait, Decreased compound muscle action potential ampli... |
OMIM:603511 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Bone cyst, Abnormal bone structure, Gait disturbance, Coarse metaphyseal trabecular... |
ORPHA:93160 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebral atrophy, Optic atrophy, Hypertonia, Limb hypertonia, Tremor, Athetosis, Cerebellar atrop... |
OMIM:617710 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Demyelinating peripheral neuropathy,... |
ORPHA:504476 |
| Myopathy, Tubular Aggregate, 1 |
|
Frequent falls, Weakness of the intrinsic hand muscles, Increased variability in muscle fiber dia... |
OMIM:160565 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... |
ORPHA:240103 |
| Allan-Herndon-Dudley Syndrome |
|
Babinski sign, Athetosis, Clonus, Spastic paraplegia, Generalized amyotrophy, Ataxia, Flexion con... |
OMIM:300523 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Limb ataxia, Cerebellar vermis atrophy, Spasticity, Tremor, Frequent falls, Gait ataxia, Skeletal... |
OMIM:616719 |
| Infantile Krabbe Disease |
|
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... |
ORPHA:206436 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened cortex of lon... |
OMIM:127000 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Myopathy, Congenital contracture |
OMIM:208100 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Hand paresthesia, Distal sensory impairment, Impaired pain sensation, Impaired vibration sensatio... |
OMIM:613640 |
| Congenital Myopathy 23 |
|
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... |
OMIM:609285 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Limb hypertonia, Abnormality of extrapyramidal motor function, Cerebral cortical a... |
OMIM:619527 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Babinski sign, Microcornea, Cerebellar atrophy, Cerebral cortical atrophy, Decreas... |
OMIM:615663 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystoni... |
OMIM:272750 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fasciculations, Tremor, Shuffling gait, Elevated circulating creatine kinase concentration, Waddl... |
ORPHA:209335 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Peripheral axonal neuropathy, Cerebral cortical atrophy, Rhabdomyolysis... |
OMIM:617070 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination, Cerebellar atrophy,... |
OMIM:610651 |
| Dystonia 7, Torsion |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Skeletal muscle hypertrophy, Torsion dystoni... |
OMIM:602124 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrap... |
OMIM:614298 |
| Behr Syndrome |
|
Babinski sign, Adductor longus contractures, Truncal ataxia, Tremor, Progressive spasticity, Freq... |
OMIM:210000 |
| Spinocerebellar Ataxia Type 36 |
|
Limb ataxia, Babinski sign, Fasciculations, Tongue fasciculations, Truncal ataxia, Head tremor, I... |
ORPHA:276198 |
| Parkinson Disease 17 |
|
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism |
OMIM:614203 |
| Spinocerebellar Ataxia 50 |
|
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor, Froment sign |
OMIM:620158 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus |
OMIM:615362 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, In... |
OMIM:254110 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Intention tremor, Pro... |
ORPHA:284289 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Tachycardia, Hyperinsul... |
ORPHA:276608 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased sensory nerve conduction velocity, Cachexia, Demyelinating peripheral neuropathy, Perip... |
ORPHA:298 |
| 4H Leukodystrophy |
|
Optic atrophy, Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Dysdiadoch... |
ORPHA:289494 |
| Amyotrophic Lateral Sclerosis |
|
Babinski sign, Progressive spinal muscular atrophy, Fasciculations, Progressive distal muscular a... |
ORPHA:803 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Cerebral atrophy, Lens luxation, Spastic tetraparesis, Myoclonic spasms, Ectopia lentis, Opisthot... |
OMIM:252150 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Supraventricular arrhythmia, Cra... |
ORPHA:420492 |
| Machado-Joseph Disease Type 1 |
|
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... |
ORPHA:276241 |
| Cystinosis |
|
Rickets, Hypokalemia, Portal hypertension, Gait disturbance, Hypophosphatemia, Abnormal pyramidal... |
ORPHA:213 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Difficulty walking, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Spa... |
OMIM:600081 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased nerve conduction velocity, Distal sensory impairment, Broad-based gait, Decreased numbe... |
ORPHA:477817 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Muscular dystrophy, Fasciculations, EMG: myopathic abnormalities, Leg mus... |
OMIM:608810 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Peripheral axonal neuropathy, Spasticity, Progressive spasticity, Spastic tetrapar... |
ORPHA:35069 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Generalized amyotrophy, Myopathy, Decreased compound muscle action potential... |
OMIM:618323 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria |
OMIM:618090 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... |
ORPHA:2590 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic gait, Babinski sign, Lower limb spasticity, Distal amyotrophy, Cerebellar atrophy, Knee c... |
OMIM:275900 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Dysdiadochokinesis, Cerebella... |
OMIM:224050 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus |
OMIM:616366 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria |
OMIM:213200 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Steppage gait, Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnor... |
ORPHA:168563 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... |
OMIM:607671 |
| Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Tongue fasciculations, Spasticity, Peripheral axonal neuropathy, Cerebral cortical... |
ORPHA:2254 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Tremor, Spastic tetraparesis, Elbow flexion contracture |
OMIM:619470 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Spasticity, Distal amyotrophy, Cerebellar atrophy, C... |
OMIM:617183 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Optic atrophy, Babinski sign, Hypertonia, Generalized limb muscle atrophy, Progressive cerebellar... |
ORPHA:137898 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria |
OMIM:618093 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal pulse pressure, Hy... |
ORPHA:466650 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Distal amyotrophy, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Abnormal lower motor neur... |
OMIM:611067 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Fatty replacement of skeletal muscle, Distal lower limb ... |
OMIM:301075 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... |
ORPHA:99750 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Babinski sign, Chronic axonal neuropathy, Lower limb spasticity, Fasciculations, Atrophy/Degenera... |
ORPHA:88644 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... |
OMIM:616117 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
EEG abnormality, Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis, Limb muscle weakness |
ORPHA:90064 |
| X-Linked Dystonia-Parkinsonism |
|
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... |
ORPHA:53351 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Muscular dystrophy, Calf muscle hypertrophy, Cerebellar atrophy, Facial palsy, Frequent falls, EM... |
OMIM:606612 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Type 2 muscle fiber predominance, Tremor, Ataxia, Myoclonus, Dysmetria |
OMIM:619028 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Waddling gait, Inability to walk |
OMIM:616269 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Joint contracture of the 5th finger, Truncal ataxia, Impaired glucose tolerance, Int... |
OMIM:614407 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis |
ORPHA:2323 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration, Tongue fasciculations, Distal amyotrophy, Clonus, Hand muscle atrophy, Foot ... |
OMIM:618811 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Babinski sign, Optic atrophy, Spasticity, Frequent falls, Motor axonal neuropathy, ... |
ORPHA:289560 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Facial hypotonia, Juvenile cataract, Resting ... |
OMIM:300055 |
| Bilateral Perisylvian Polymicrogyria |
|
Limb hypertonia, Oromotor apraxia, Lower limb spasticity, Abnormality of masticatory muscle, Spas... |
ORPHA:98889 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Gait ataxia, Rigidity, Optic atrophy, Babinski sign, Truncal ataxia, Muscle f... |
OMIM:258450 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
EEG with abnormally slow frequencies, Abnormality of extrapyramidal motor function, Spasticity, A... |
ORPHA:280219 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Demyelinating peripheral neuropathy, Diaphragmatic paralysis, Scapular wingin... |
OMIM:612954 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Calf muscle hypertrophy, Skeletal muscle atrophy, Macroglossia, Tetraparesis,... |
OMIM:616827 |
| Neuromuscular Oculoauditory Syndrome |
|
Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Decre... |
OMIM:618733 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Muscle eosinophilia, Myositis, Scapular winging, Facial palsy, Proximal amyot... |
OMIM:253600 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Spasticity, Tremor, Poor fine motor coordination, EEG with generalized slow activity grad... |
ORPHA:79263 |
| Alexander Disease Type Ii |
|
Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Limb muscle weakness, Ri... |
ORPHA:363722 |
| Oculopharyngodistal Myopathy 4 |
|
Fatty replacement of skeletal muscle, Rimmed vacuoles, Tremor, Autophagic vacuoles, EMG: myopathi... |
OMIM:619790 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Hypertonia, Spasticity, Tremor, Rigidity, Ataxia |
ORPHA:33445 |
| Myopathy, Scapulohumeroperoneal |
|
Scapular winging, Facial palsy, Nemaline bodies, Increased variability in muscle fiber diameter, ... |
OMIM:616852 |
| Hypokalemic Periodic Paralysis |
|
Respiratory paralysis, Periodic hypokalemic paresis, Increased intramyocellular lipid droplets, P... |
ORPHA:681 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Steppage gait, Increased total iron binding capacity, Abnormality of extrapyramidal... |
OMIM:613280 |
| Allan-Herndon-Dudley Syndrome |
|
Babinski sign, Limb hypertonia, Abnormality of extrapyramidal motor function, Brain atrophy, Spas... |
ORPHA:59 |
| Spinocerebellar Ataxia Type 27 |
|
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... |
ORPHA:98764 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture, EEG abnormality |
OMIM:617106 |
| Peho Syndrome |
|
Optic atrophy, Hypsarrhythmia, Neuronal loss in central nervous system, Undetectable visual evoke... |
OMIM:260565 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Demyelinating motor neuropathy, Babinski sign, Ragged-red muscle fibers, Atrophy/Degeneration aff... |
OMIM:616479 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmi... |
ORPHA:101016 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Sensory axonal neuropathy, Distal amyotrophy, Facial palsy, Spastic paraplegia, Decreased number ... |
OMIM:256850 |
| Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon, Heterochromia iridis, Ataxia, Spastic paraparesis, Blue irides, Leukodystr... |
OMIM:277580 |
| Muscular Dystrophy, Congenital, 1B |
|
Muscular dystrophy, Facial palsy, Pectoralis amyotrophy, Sternocleidomastoid amyotrophy, Generali... |
OMIM:604801 |
| Myopathy, Centronuclear, 1 |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... |
OMIM:160150 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Limb ataxia, Decreased distal sensory nerve action potential, Impaired pain sensation, Positive R... |
OMIM:614575 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Difficulty walking, Delayed epiphyseal ossification, Hypophosp... |
OMIM:241530 |
| Myopathy, Sarcoplasmic Body |
|
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... |
OMIM:620286 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebral atrophy, Limb hypertonia, Distal amyotrophy, Cerebellar atrophy, Dystonia, EEG abnormali... |
OMIM:618247 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... |
OMIM:610185 |
| Aceruloplasminemia |
|
Chorea, Gait ataxia, Aceruloplasminemia, Rigidity, Ataxia, Decreased circulating iron concentrati... |
ORPHA:48818 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Glycosuria, Hypophosphatemia, Osteomalacia, Recurrent fractures |
OMIM:613388 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Fatty replacement of skeletal muscle, Limb-girdle muscle atrophy, Facial dipl... |
ORPHA:370980 |
| X-Linked Immunoneurologic Disorder |
|
Cataract, Hemiplegia/hemiparesis, Hypertonia, Myopathy |
ORPHA:2571 |
| Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Hypertension, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Sandhoff Disease, Juvenile Form |
|
Cerebral atrophy, Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, C... |
ORPHA:309162 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebral atrophy, Hypertonia, Spasticity, Cerebellar atrophy, Delayed CNS myelination, Cataract, ... |
OMIM:615095 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612069 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... |
OMIM:604559 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... |
OMIM:617319 |
| Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Ataxia, Skeletal muscle atrophy, Dystonia, Myoclonus, Opacification of ... |
OMIM:230650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Dystonia, Ataxia, Skeletal muscle atrophy, Generalized dystonia |
OMIM:618239 |
| Martsolf Syndrome 2 |
|
Brain atrophy, Camptodactyly, Camptodactyly of finger, Developmental cataract, Cataract, Spastic ... |
OMIM:619420 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Optic atrophy, Temporal optic disc pallor, Atrophy/Degeneration affecting the brainstem, Spastici... |
ORPHA:98673 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Increased serum pyruvate, Elevated circulating creatine kinase concentration, Titubation,... |
OMIM:619405 |
| Hurler-Scheie Syndrome |
|
Abnormal pyramidal sign, Corneal opacity, Abnormal nerve conduction velocity |
ORPHA:93476 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia, Cataract |
OMIM:614307 |
| Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Spastic paraparesis, Oromandibular dystonia, Parkinsonism |
ORPHA:397725 |
| Farber Disease |
|
Brain atrophy, Spasticity, Corneal opacity, Paraparesis, Skeletal muscle atrophy, Flexion contrac... |
ORPHA:333 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Lower limb spasticity, Spasticity, Dystonia, Ataxia, Delayed peripheral myelina... |
ORPHA:464282 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... |
OMIM:616313 |
| Lissencephaly 8 |
|
Optic atrophy, Appendicular spasticity, Skeletal muscle atrophy, Cataract, Cerebral hypomyelination |
OMIM:617255 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Axial musc... |
ORPHA:240085 |
| Familial Short Qt Syndrome |
|
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... |
ORPHA:51083 |
| Developmental And Epileptic Encephalopathy 86 |
|
Generalized amyotrophy, Dystonia, CNS hypomyelination |
OMIM:618910 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,... |
OMIM:604286 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia |
OMIM:618782 |
| Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... |
OMIM:619464 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus |
OMIM:616026 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Prolonged QT interval, Transient hypophosphatemia, Respiratory paralysis, Tetrapleg... |
ORPHA:79102 |
| Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, Dystonia, Opisth... |
OMIM:231670 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Bradykinesia, Resting tremor, Ragged-red muscle fibers, Sensory axonal neuropathy, Parkinsonism w... |
OMIM:157640 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, CNS hypomyel... |
OMIM:607694 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Facial palsy, Shoul... |
OMIM:158900 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Babinski sign, Hypertonia, Peripheral axonal neuropathy, Distal amyotrophy, Tremor... |
OMIM:616505 |
| Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Decreased nerve conduction velocity, Ataxia, Gait disturbance |
OMIM:614863 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Global brain atrophy, Distal lower limb muscle weakness, Spastic dysarthria, Cerebellar vermis at... |
ORPHA:94124 |
| Saccharopinuria |
|
Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Hyperammonemia,... |
ORPHA:3124 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, Arthrogryposis multiplex ... |
OMIM:256030 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Generalized amyotrophy, Rigidity, Dystonia, Dysmetria |
OMIM:203740 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Spasticity, Hypertension, Tremor, Poor motor coordination... |
ORPHA:363400 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... |
OMIM:616201 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis |
OMIM:612126 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... |
OMIM:619566 |
| Marinesco-Sjogren Syndrome |
|
Limb ataxia, Cerebellar cortical atrophy, Spasticity, Rimmed vacuoles, Cerebellar atrophy, Gait a... |
OMIM:248800 |
| Multiple System Atrophy |
|
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... |
ORPHA:102 |
| Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,... |
OMIM:601650 |
| Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Decreased nerve conduction velocity, EEG with burst suppression |
OMIM:615368 |
| Developmental And Epileptic Encephalopathy 4 |
|
Hypsarrhythmia, Tremor, Spastic paraplegia, Delayed CNS myelination, Spastic tetraplegia, Choreoa... |
OMIM:612164 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Fasciculations, Brain atrophy, Sensory axonal neuropathy, R... |
ORPHA:52430 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... |
OMIM:600858 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Weakness of facial musculature |
OMIM:618637 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Osteoporosis, Gait ataxia... |
ORPHA:529665 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... |
ORPHA:66529 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Boucher-Neuhauser Syndrome |
|
Spinocerebellar atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Intention tremor, Gai... |
OMIM:215470 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Distal amyotrophy, Cerebel... |
OMIM:604391 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... |
OMIM:300696 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Hypertonia, Paralysis, Distal lower limb muscle weakness, Respiratory paraly... |
ORPHA:79139 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism |
ORPHA:306669 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... |
OMIM:617760 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Pelvic girdle muscle weakness, Scapular winging, Nemaline bodies, Achilles tendon contracture, Sk... |
OMIM:620389 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... |
ORPHA:254361 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... |
OMIM:619911 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... |
ORPHA:420485 |
| Exfoliation Syndrome |
|
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... |
OMIM:177650 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Cerebral atrophy, Ataxia, Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification, Hypocalcemia... |
OMIM:264700 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism, Spasticity, CNS demyelination, Flexion cont... |
OMIM:270200 |
| Lipoyltransferase 1 Deficiency |
|
Bradycardia, Abnormality of extrapyramidal motor function, Spastic tetraparesis, Pulmonary arteri... |
OMIM:616299 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Abnormal anteri... |
ORPHA:1145 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteopenia, Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Glyc... |
ORPHA:2088 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Scapular winging, Scapuloperoneal myopathy, Myofibrillar myopathy, Forearm supination contracture... |
OMIM:300695 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Heterochromia iridis |
ORPHA:66633 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Peroxisome Biogenesis Disorder 5B |
|
Oculomotor apraxia, Tremor, Elevated circulating phytanic acid concentration, Ataxia, Unsteady ga... |
OMIM:614867 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Hyperkalemia, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage... |
ORPHA:340 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... |
OMIM:606324 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cerebral atrophy, Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Facial di... |
OMIM:611890 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Hyperphosphatemia, Calvarial hyperostosis, Epiphyseal stippling |
OMIM:101800 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... |
OMIM:611818 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Osteomalacia |
OMIM:134600 |
| Dystonia 24 |
|
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia |
OMIM:615034 |
| Siddiqi Syndrome |
|
Lower limb amyotrophy, Flexion contracture, Limb dystonia |
OMIM:618635 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... |
OMIM:618877 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Brain atrophy, Ataxia, Skeletal muscle atrophy, Left ventricular hypertrophy, Abno... |
OMIM:618228 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... |
OMIM:614831 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Spastic gait, Limb hypertonia, Lower limb spasticity, Lower limb amyotrophy, Progressive spastic ... |
ORPHA:401815 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Scapular... |
OMIM:620080 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy |
ORPHA:480 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Tremor, Increased intramyocellular lipid drop... |
OMIM:612016 |
| Multiple System Atrophy 1, Susceptibility To |
|
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Iris atrophy, Abnormal autonomic ne... |
OMIM:146500 |
| Myopathy, Distal, 3 |
|
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Clumsiness,... |
OMIM:610099 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... |
OMIM:619725 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... |
OMIM:608358 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscular dystrophy, Chorea, Truncal ataxia, Muscle fiber atrophy, Cataract, Limb-girdle muscular ... |
ORPHA:369840 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... |
ORPHA:352649 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Lower limb spasticity, Lower limb hypertonia, Generalized amyotrop... |
ORPHA:1177 |
| Spastic Paraplegia 16, X-Linked |
|
Babinski sign, Lower limb spasticity, Facial hypotonia, Lower limb amyotrophy, Tetraplegia, Spast... |
OMIM:300266 |
| Scheie Syndrome |
|
Spastic paraparesis, Corneal opacity, Cerebral palsy, Abnormal nerve conduction velocity |
ORPHA:93474 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Generalized dystonia, Cerebral dysmyelination, Writer's cramp, Sudanophilic leukod... |
OMIM:312080 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertonia, Hypertension, Tremor, Limitation of joint mobility, Gait disturbance, Type I diabetes... |
ORPHA:1192 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Resting tremor, Gait ataxia, S... |
OMIM:601162 |
| Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia, Skeletal muscle atrophy |
OMIM:105300 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Frontal cortical atrophy, Calf muscle hypertrophy, Scapular winging, Proximal amyotrophy, Reduced... |
ORPHA:206559 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow activity, Spasticity, Tr... |
ORPHA:442835 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ... |
OMIM:606071 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Neurodegeneration, Cerebellar atrophy, Gait ataxia |
ORPHA:438134 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickenin... |
ORPHA:93325 |
| Multiple System Atrophy, Parkinsonian Type |
|
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... |
ORPHA:98933 |
| Spinocerebellar Ataxia 36 |
|
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr... |
OMIM:614153 |
| Cataract 9, Multiple Types |
|
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma |
OMIM:604219 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Babinski sign, Abnormal cranial nerve morphology, Tetraplegia, Facial palsy, Anisocori... |
ORPHA:79138 |
| Sialidosis Type 2 |
|
Tremor, Corneal opacity, Ataxia, Flexion contracture, Skeletal muscle atrophy |
ORPHA:87876 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Ata... |
OMIM:261640 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Dysmetria, Myoclonus |
OMIM:618251 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Hypomimic face, Limb hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Rigidit... |
ORPHA:70594 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
| Inherited Creutzfeldt-Jakob Disease |
|
Bradykinesia, Babinski sign, Amyloidosis of peripheral nerves, Progressive cerebellar ataxia, Spa... |
ORPHA:282166 |
| Spinocerebellar Ataxia 2 |
|
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... |
OMIM:183090 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Bradycardia, Spasticity, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Dystonia, ... |
OMIM:614702 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Babinski sign, Tremor, Abnormal CNS myelination |
ORPHA:477673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Bradycardia, Hyperalaninemia, Hypoglycemia, Decreased plasma free carni... |
OMIM:619048 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Hypophosphatemic rickets, Waddling gait, Hypophosphatemia, Osteoarthritis, Abnormal circ... |
OMIM:307800 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ragged-red muscle fibers, Scapular winging, Skeletal muscle atrophy, Weakness of facial musculature |
OMIM:617069 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Spastic gait, Optic atrophy, Lower limb amyotrophy, Optic nerve hypoplasia, Spasticity, Periphera... |
ORPHA:496790 |
| Parkinson Disease 14, Autosomal Recessive |
|
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... |
OMIM:612953 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone... |
OMIM:300554 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Dystonia, Leukodystrophy |
OMIM:615010 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Cerebral hypomyelination, Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Int... |
OMIM:614381 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Calf muscle hypertrophy, Tremor, Limb muscle weakness |
OMIM:313200 |
| Machado-Joseph Disease |
|
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... |
OMIM:109150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Bradycardia, Decreased circulating carnitine concentration, Spasticity, Cardiac arrest, Hypertrop... |
OMIM:618235 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Poor fine motor coordination, Bradycardia |
OMIM:617182 |
| Tetanus |
|
Hypertonia, Stiff neck, Bradycardia, Hypertension, Tremor, Elevated circulating creatine kinase c... |
ORPHA:3299 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign |
ORPHA:139485 |
| Cach Syndrome |
|
Limb ataxia, Cerebral atrophy, Optic atrophy, Dysmyelinating leukodystrophy, Truncal ataxia, Spas... |
ORPHA:135 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Babinski sign, Knee flexion contracture, Spasticity, Distal amyotrophy, Spastic tetraparesis, Fre... |
ORPHA:3208 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification, Hypophosphat... |
OMIM:277440 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Spasticity, Cer... |
OMIM:616239 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... |
OMIM:117000 |
| Smith-Magenis Syndrome |
|
Abnormal nerve conduction velocity, Impaired pain sensation, Increased body weight, Pain insensit... |
OMIM:182290 |
| Spinocerebellar Ataxia 42 |
|
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Unsteady gait, Abnormal pyramidal sign |
OMIM:616795 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Optic atrophy, Babinski sign, Hyperkinetic movements, Spasticity, Cerebellar atrophy, Gait ataxia... |
OMIM:620089 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Spastic gait, Babinski sign, Lower limb spasticity, Paraplegia, Peripheral axonal neuropathy, Dis... |
OMIM:270700 |
| Arachnoid Cyst |
|
Mydriasis, Facial palsy, Paraparesis, Cranial nerve compression, Hemiparesis, Tetraparesis, Slurr... |
ORPHA:2356 |
| Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Tremor, Iris hypopigmentation, Ataxia, Foot dorsiflexor weak... |
OMIM:214500 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Spastic gait, Babinski sign, Limb ataxia, Lower limb spasticity, Lower limb amyotrophy, Lower lim... |
ORPHA:100993 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Babinski sign, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Thenar muscle atr... |
OMIM:500013 |
| Familial Cervical Artery Dissection |
|
Paralysis, Facial palsy |
ORPHA:36382 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia,... |
OMIM:128100 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Apraxia, Tremor, Abse... |
ORPHA:52368 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic tetraparesis, Cerebral palsy, Paraparesis, Dystonia, Spastic ataxia, Generalized dystonia |
OMIM:620358 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Hypocalcemic seizures, Difficulty walking, Delayed epiphyseal ossification, Hypocalcemia... |
ORPHA:289157 |
| Fanconi-Bickel Syndrome |
|
Rickets, Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia... |
OMIM:227810 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:612300 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Cerebral hemorrhage, Abnormal pyramidal sign |
ORPHA:542310 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism |
OMIM:619738 |
| Atypical Rett Syndrome |
|
Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Gait disturbance, Gait ataxi... |
ORPHA:3095 |
| Cockayne Syndrome |
|
Cerebral dysmyelination, Demyelinating peripheral neuropathy, Cerebellar atrophy, Action tremor, ... |
ORPHA:191 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Neonatal hypoglycemia, Bradycardia, Cardiomyopathy, Cardiac arrest, Premature ventricular contrac... |
OMIM:212138 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... |
OMIM:608567 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Nemaline Myopathy 10 |
|
Facial palsy, Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Flexion contractu... |
OMIM:616165 |
| Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Hypophosphatemia |
ORPHA:2611 |
| Ataxia-Oculomotor Apraxia 3 |
|
Oculomotor apraxia, Peripheral axonal neuropathy, Distal amyotrophy, Cerebellar atrophy, Frequent... |
OMIM:615217 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Decreased size of nerve terminals, Decreased muscle mass, Skeletal muscle atrophy, ... |
OMIM:608931 |
| Fried Syndrome |
|
Skeletal muscle atrophy, Spastic diplegia |
ORPHA:85335 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... |
OMIM:613695 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Hypotension, Hypovolemia, Hypon... |
ORPHA:31824 |
| Developmental And Epileptic Encephalopathy 51 |
|
Babinski sign, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Dystonia, ... |
OMIM:617339 |
| Cardiomyopathy, Dilated, 1A |
|
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... |
OMIM:115200 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance, Arrhythmia |
ORPHA:29822 |
| Marinesco-Sjögren Syndrome |
|
Optic atrophy, Muscular dystrophy, Hypertonia, Spasticity, Aplasia/Hypoplasia involving the skele... |
ORPHA:559 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffl... |
ORPHA:3077 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Difficulty walking, Osteomalacia, Abnormal bone structure, Cortical irregularity, Thin b... |
ORPHA:249 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... |
OMIM:608807 |
| Lopes-Maciel-Rodan Syndrome |
|
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... |
OMIM:617435 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... |
OMIM:612240 |
| Myofibrillar Myopathy 11 |
|
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... |
OMIM:619178 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Hypertonia, Astigmatism, Tremor, Ataxia, Delayed CNS myelination |
OMIM:619556 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Skeletal muscle atrophy |
ORPHA:3294 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Babinski sign, Reduced bone mineral density, Tremor, Gait disturbance, Spastic para... |
ORPHA:83629 |
| Gm2 Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Chorea, Exaggerated startle response, Dystonia, Abnormal pyramidal sign, Neurod... |
ORPHA:309246 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Cerebral atrophy, Oculomotor apraxia, Tongue fasciculations, Spasticity, Cerebellar atrophy, Skel... |
OMIM:614678 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased sensory nerve conduction velocity, Facial palsy, Failure to thrive, Ataxia, Decreased m... |
ORPHA:456312 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Waddling gait, Hip contracture, Hypercalcemia, Hypophosphatemia, Knee flexion contrac... |
OMIM:156400 |
| Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Limb joint contracture, Opisthotonus, Myoclonus, Third degree atrioventricular block |
OMIM:619814 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Fasciculations, Elbow flexion contracture, Upper limb muscle weakness,... |
ORPHA:1143 |
| Schindler Disease, Type I |
|
Optic atrophy, Generalized amyotrophy, Spasticity, Myoclonus |
OMIM:609241 |
| Acute Transverse Myelitis |
|
Babinski sign, Distal lower limb muscle weakness, Orthostatic hypotension, Paraplegia, Abnormalit... |
ORPHA:139417 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torsion dystonia, Tremor, Blepharospasm, Torticollis |
OMIM:224500 |
| O'Sullivan-Mcleod Syndrome |
|
Fasciculations, Tremor, Upper limb muscle weakness, Hand muscle weakness, Intrinsic hand muscle a... |
ORPHA:99965 |
| Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, Progressive sp... |
ORPHA:512 |
| Cockayne Syndrome A |
|
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Tremor, Cerebellar atrophy,... |
OMIM:216400 |
| Myopathy, Myofibrillar, 1 |
|
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... |
OMIM:601419 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Babinski sign, Gait imbalance, Oculomotor apraxia, Elevated circulating creatine kinase concentra... |
ORPHA:64753 |
| Cockayne Syndrome B |
|
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Microcornea, Tremor, Abnorm... |
OMIM:133540 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Gait disturbance, Hypophosphatemia, Pathologic fracture, Fibrous dysplasia of the b... |
ORPHA:352540 |
| Spinocerebellar Ataxia 15 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor |
OMIM:606658 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Cerebral palsy, Head titubation, Ataxia, EEG abnormality, Leukodystrophy, Hypertonia, Delayed mye... |
OMIM:619475 |
| Intermediate Nemaline Myopathy |
|
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... |
ORPHA:171433 |
| Cerebrotendinous Xanthomatosis |
|
Cerebral atrophy, Babinski sign, Tendon xanthomatosis, Spasticity, Cerebellar atrophy, Lower limb... |
OMIM:213700 |
| Toxin-Mediated Infectious Botulism |
|
Paralysis, Mydriasis, Diaphragmatic paralysis, Cerebral palsy |
ORPHA:230800 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Hypertonia, Ragged-red muscle fibers, Chorea, Spasticity, Demyelinating peripheral... |
ORPHA:255210 |
| Dent Disease 1 |
|
Rickets, Delayed epiphyseal ossification, Glycosuria, Hypophosphatemia, Sparse bone trabeculae, O... |
OMIM:300009 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Peripheral axonal neuropathy, Spinal muscular atrophy, Increased variability in muscle fiber diam... |
OMIM:616867 |
| Madras Motor Neuron Disease |
|
Optic atrophy, Babinski sign, Limb fasciculations, Distal amyotrophy, Facial palsy |
ORPHA:137867 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Progressive Familial Heart Block, Type Ii |
|
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... |
OMIM:140400 |
| Dentatorubral Pallidoluysian Atrophy |
|
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... |
ORPHA:101 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Fasciculations, Tremor, Triceps weakness, Intrinsic hand muscle atrophy, Polyminimyoclonus, Vocal... |
OMIM:619574 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cerebral atrophy, Hyperkinetic movements, Chorea, Truncal ataxia, Cataract, Limb-girdle muscular ... |
ORPHA:369847 |
| Mohr-Tranebjaerg Syndrome |
|
Intrinsic hand muscle atrophy, Spasticity, Tremor, Dystonia |
OMIM:304700 |
| Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... |
ORPHA:98773 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Babinski sign, Hypertonia, Limb hypertonia, Bradycardia, Myoclonic spasms, Clonus, Rigidity, Join... |
OMIM:614498 |
| Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Hemiplegia/hemiparesis, Abnormal optic disc morphology |
ORPHA:65 |
| Flynn-Aird Syndrome |
|
Cerebral cortical atrophy, Ataxia, Skeletal muscle atrophy, Cataract, EEG abnormality |
ORPHA:2047 |
| Short Qt Syndrome 2 |
|
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... |
OMIM:609621 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Optic atrophy, Progressive spastic paraparesis, Cerebellar vermis atrophy, Atrophy of the spinal ... |
ORPHA:329308 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Fast... |
ORPHA:263455 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Skeletal muscle atrophy, Slurred speech, Myoclonus |
OMIM:274240 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract, Spastic paraparesis |
OMIM:619338 |
| Congenital Myopathy 15 |
|
Vocal cord paralysis, Camptodactyly, Increased variability in muscle fiber diameter, Weakness of ... |
OMIM:620161 |
| Adenylosuccinase Deficiency |
|
Cerebral atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, CNS hypomyelination, Opisthotonus,... |
OMIM:103050 |
| Rigid Spine Syndrome |
|
Elbow flexion contracture, Hamstring contractures, Hip contracture, Skeletal muscle atrophy, Myop... |
ORPHA:97244 |
| Timothy Syndrome |
|
Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, Atrioventricul... |
OMIM:601005 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Bradykinesia, Babinski sign, Hypertonia, Cerebral atrophy, Optic atrophy, Chorea, Spasticity, Dys... |
OMIM:610217 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... |
OMIM:618447 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Hip flexor weakness, Abnormality of masticatory muscle, Triceps weakness, Upper limb muscle weakn... |
ORPHA:98913 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Dystonia, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Tongue fasciculations, Scapular winging, Intrinsic hand muscle atrophy, Fi... |
OMIM:620285 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... |
ORPHA:352479 |
| Myopathy With Extrapyramidal Signs |
|
Hypervalinemia, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Tremor,... |
OMIM:615673 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... |
ORPHA:478029 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal vestibulo-ocular reflex, Babinski sign, Hypomimic face, Resting tremor, Abnormal cranial... |
ORPHA:247234 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Cerebral atrophy, Babinski sign, Hyperkinetic movements, Spasticity, Cerebral cortical atrophy, S... |
OMIM:616420 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Developmental And Epileptic Encephalopathy 46 |
|
Hypsarrhythmia, Tremor, Limb hypertonia |
OMIM:617162 |
| Hypomagnesemia 3, Renal |
|
Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ... |
OMIM:248250 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Interictal epileptiform activity, Spasticity, Skeletal muscle atrophy, Delayed CNS myelination, T... |
OMIM:618862 |
| Amyotrophy, Monomelic |
|
Fasciculations, Interosseus muscle atrophy, Upper limb muscle weakness, Cervical spinal cord atrophy |
OMIM:602440 |
| Congenital Heart Block |
|
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... |
ORPHA:60041 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Paraplegia, Hemiparesis, Leukodystrophy, Paraparesis |
ORPHA:79124 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... |
ORPHA:240071 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... |
OMIM:181405 |
| Congenital Myopathy 20 |
|
Scapular winging, Frequent falls, Congenital contracture, Nemaline bodies, Increased variability ... |
OMIM:620310 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death |
OMIM:600919 |
| East Syndrome |
|
Peripheral hypomyelination, Peripheral axonal neuropathy, Cerebellar atrophy, Action tremor, Atax... |
ORPHA:199343 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... |
ORPHA:98905 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Peripheral axonal neuropathy, Abnorm... |
OMIM:105210 |
| Amyotrophy, Hereditary Neuralgic |
|
Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen... |
OMIM:162100 |
| Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Cerebral atrophy, Optic atrophy, Hyperkinetic movements, Spastic... |
ORPHA:391428 |
| Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Corneal ulceration, Facial h... |
OMIM:615273 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Brain atrophy, Elbow flexion contracture, Cerebellar atrophy, Camptodactyly, Delayed myelination,... |
OMIM:214150 |
| Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Optic atrophy, Hypertonia, Opisthotonus, Skeletal muscle atrophy |
OMIM:616896 |
| Developmental And Epileptic Encephalopathy 82 |
|
Spastic tetraplegia, Spastic paraparesis, Cerebral atrophy |
OMIM:618721 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebellar atrophy, Head t... |
ORPHA:95433 |
| Muscle-Eye-Brain Disease |
|
Optic atrophy, Hypertonia, Hemiplegia/hemiparesis, Cataract, EEG abnormality, Myopathy |
ORPHA:588 |
| Glycogen Storage Disease Ixd |
|
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... |
OMIM:300559 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Bradykinesia, EEG with spike-wave complexes, Incoordination, Poor fine motor coordination, Tremor... |
ORPHA:36387 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypertonia, Maturity-onset diabetes of the young, Oculogyric crisis, Tremor, Hyperphenylalaninemi... |
ORPHA:1578 |
| Tay-Sachs Disease |
|
Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Quadriceps muscle atrop... |
ORPHA:845 |
| Oculodentodigital Dysplasia |
|
Joint contracture of the 5th finger, Microcornea, Spasticity, Paraparesis, Ataxia, Cataract, Tetr... |
OMIM:164200 |
| Parkinson-Dementia Syndrome |
|
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism |
OMIM:260540 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Dystonia, Hyperalaninemia, Bradycardia |
OMIM:614654 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria |
ORPHA:1170 |
| Paget Disease Of Bone 2, Early-Onset |
|
Tetraparesis, Paraparesis |
OMIM:602080 |
| Ataxia-Telangiectasia |
|
Spasticity, Tremor, Gait disturbance, Ataxia, Type II diabetes mellitus, Telangiectasia of the sk... |
ORPHA:100 |
| Wilson Disease |
|
Sunflower cataract, Decreased nerve conduction velocity, Abnormality of extrapyramidal motor func... |
OMIM:277900 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy, Dysmetria |
OMIM:615578 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... |
OMIM:614022 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Periodic paralysis, Tremor, Hypokalemia |
OMIM:613239 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Bradycardia, Cardiomyopathy, Gait disturbance, Parkinsonism, Arrhythmia, Diabetes mellitus |
OMIM:609286 |
| Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... |
OMIM:615530 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Hypotension, Dystonia, Joint contractu... |
ORPHA:35708 |
| Alpha-Mannosidosis, Adult Form |
|
Clumsiness, Subcortical cerebral atrophy, Corneal opacity, Cerebellar atrophy, Cerebral cortical ... |
ORPHA:309288 |
| Choreoacanthocytosis |
|
Progressive choreoathetosis, Limb muscle weakness, Dystonia, Parkinsonism, Skeletal muscle atroph... |
OMIM:200150 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Babinski sign, Spasticity, Involuntary movements, Congenital contracture, Sinus bradycardia, Dyst... |
OMIM:618397 |
| Glutathionuria |
|
Action tremor, Dysdiadochokinesis, Tremor |
OMIM:231950 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebral atrophy, Babinski sign, Optic atrophy, Resting tremor, Atrophy/Degeneration affecting th... |
ORPHA:314404 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Aniridia 2 |
|
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Cerebellar atrophy, Exaggerated startle r... |
OMIM:620327 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle atrophy, Flexi... |
OMIM:310440 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Microcornea, Myopathy, Skeletal muscle atrophy |
ORPHA:300179 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Spastic gait, Babinski sign, Tetraplegia, Spasticity, Corpus callosum atrophy, Cerebral cortical ... |
ORPHA:447760 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Mildly elevated creatine kinase, Bradycardia |
OMIM:620265 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial palsy, Ataxia, H... |
OMIM:211530 |
| Cog8-Cdg |
|
Chronic axonal neuropathy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Atax... |
ORPHA:95428 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Microcornea, Skeletal muscle atrophy |
ORPHA:85283 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebral atrophy, Hypertonia, Tetraplegia, Cerebellar atrophy, Corpus callosum atrophy, Cerebral ... |
OMIM:619272 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618815 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperkinetic movements, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Chore... |
OMIM:233910 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Failure to thrive, Ataxia, Severe demyelination of the white matter, Peripheral de... |
ORPHA:79282 |
| Rett Syndrome |
|
Truncal ataxia, Spasticity, Gait apraxia, Gait ataxia, Cerebral cortical atrophy, Dystonia, Skele... |
OMIM:312750 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis, Myopathy |
OMIM:170400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Difficulty walking, Elevated circulating creatine kinase concentration, Sinus bradycardia, Loss o... |
OMIM:616812 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Lower limb amyotrophy, Titubation, Ataxia, Abnormal myelination, Abnormal ... |
ORPHA:280210 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... |
OMIM:137440 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... |
OMIM:253700 |
| Pyruvate Dehydrogenase Deficiency |
|
Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Cerebral palsy, Gait... |
ORPHA:765 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... |
OMIM:614302 |
| Peroxisome Biogenesis Disorder 6B |
|
Limb ataxia, Distal amyotrophy, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Motor ... |
OMIM:614871 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spastic gait, Abnormal autonomic nervous system physiology, Gait ataxia, Action tremor, Head titu... |
ORPHA:99027 |
| Atrial Standstill 2 |
|
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation... |
OMIM:615745 |
| Sudden Cardiac Failure, Infantile |
|
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... |
OMIM:617222 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Generalized dystonia, Hypsarrhythmia, Chorea, Gait ataxia, Left ventricular hyp... |
OMIM:618321 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Atrophy/Degeneration involving the spinal cord, Gait ataxia, Centrally nucleated skeletal muscle ... |
OMIM:607459 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Sick sinus syndrome, Bradycardia, Poor fine motor coordination, Ventricular escape rhythm, Arrhyt... |
ORPHA:542306 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hyperkinetic movements, Chorea, Truncal ataxia, Tremor, Athetosis, Speech apraxia, Dystonia, Atax... |
OMIM:615356 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
EEG abnormality, Skeletal muscle atrophy |
ORPHA:3239 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Cerebral atrophy, Optic atrophy, Hypertonia, Oculomotor apraxia, Tongue fasciculations, Spasticit... |
OMIM:614969 |
| Sandhoff Disease |
|
Orthostatic hypotension, Fasciculations, Spasticity, Upper motor neuron dysfunction, Exaggerated ... |
OMIM:268800 |
| Snakebite Envenomation |
|
Respiratory paralysis, Muscle fiber necrosis, Rhabdomyolysis, Paralysis, Pseudobulbar paralysis |
ORPHA:449285 |
| Microhydranencephaly |
|
Athetosis, Generalized amyotrophy, Skeletal muscle atrophy, Spastic tetraplegia, Multiple joint c... |
OMIM:605013 |
| Hyperkalemic Periodic Paralysis |
|
Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Skeletal muscle hypertrophy, Cerebra... |
ORPHA:682 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... |
OMIM:255320 |
| Choreoacanthocytosis |
|
Chorea, Lingual dystonia, Abnormal autonomic nervous system physiology, Limb dystonia, Head titub... |
ORPHA:2388 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Cerebral atrophy, Global brain atrophy, Hyperkinetic movements, Spasticity, Athetosis, Facial dip... |
OMIM:612073 |
| Insulinoma |
|
Hyperinsulinemia, Palpitations, Tremor, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperins... |
ORPHA:97279 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hypertonia, Tremor, Cardiac arrest, Epistaxis, Ataxia, Arrhythmia |
ORPHA:99745 |
| Non-Functioning Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Tremo... |
ORPHA:94080 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy |
OMIM:613723 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| D-Glyceric Aciduria |
|
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Appendicu... |
OMIM:220120 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Spasticity, Tremor, Dystonia, Joint contracture, Choreoathetosis |
OMIM:617664 |
| Chédiak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Brain atrophy, Tremor, Cerebellar atrophy, Atrophy of the sp... |
ORPHA:167 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Limb dysmetria, Limb muscle weakness, Skeletal muscle atrophy, Weakness of facial musculature, Ab... |
ORPHA:329336 |
| Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... |
OMIM:617114 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cranial hyperostosis, Hyperkinetic movements, Tremor, Gait disturbance, Upper limb spasticity, My... |
ORPHA:457240 |
| Rift Valley Fever |
|
Paralysis, Decerebrate rigidity, Hemiparesis, Paraparesis |
ORPHA:319251 |
| Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Leg dystonia, Oculogyric crisis, Cataract, Pseudobulbar paralysis |
OMIM:607371 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Myoclonus, Cataract, Dysmetria |
OMIM:619780 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Optic atrophy, Hypertonia, Spasticity, Cerebellar atrophy, Gait ataxia, Delayed myelination, Diff... |
ORPHA:543470 |
| Fetal Akinesia Deformation Sequence 4 |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Camptodactyly |
OMIM:618393 |
| Classic Phenylketonuria |
|
Hypertonia, Paraplegia, Tremor, Cataract, Hemiplegia |
ORPHA:79254 |
| Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Bradycardia |
ORPHA:95717 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Multifocal epileptiform discharges, Ocular anterior segment dysgenesis, Incoordination, EEG abnor... |
ORPHA:369891 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Paroxysmal dystonia, Lower limb... |
ORPHA:466722 |
| Cystathioninuria |
|
Tremor |
ORPHA:212 |
| L1 Syndrome |
|
Hemiplegia/hemiparesis, Spasticity, Aganglionic megacolon, Skeletal muscle atrophy |
ORPHA:275543 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Bradykinesia, Babinski sign, Global brain atrophy, Optic atrophy, Abnormality of extrapyramidal m... |
OMIM:234200 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign |
OMIM:608768 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Hypoplasia of the musculature, Progressive spasticity, Developmental cataract, Skeletal muscle at... |
ORPHA:85323 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Peripheral axonal neuropathy, Skele... |
OMIM:151800 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Optic atrophy, Lower limb spasticity, Tongue fasciculations, Atrophy/Degeneration affecting the b... |
OMIM:617193 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Optic atrophy, Hypsarrhythmia, Spasticity, Vocal cord paralysis, Cerebral cortical atrophy, Incre... |
ORPHA:500144 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Impaired temper... |
ORPHA:64752 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Recurrent corneal erosions, Corneal ulceration, Decreased number of small peripheral myelinated n... |
OMIM:256800 |
| Adrenomyeloneuropathy |
|
Spastic gait, Babinski sign, Distal lower limb muscle weakness, Cerebral dysmyelination, Axonal d... |
ORPHA:139399 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98863 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Cerebe... |
ORPHA:496641 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Optic atrophy, Facial diplegia, Ataxia, Facial paralysis, Skeletal muscle atrophy |
OMIM:613559 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... |
ORPHA:98853 |
| Foodborne Botulism |
|
Paralysis, Mydriasis, Diaphragmatic paralysis, Cerebral palsy |
ORPHA:228371 |
| Parkinson Disease 21 |
|
Bradykinesia, Rigidity, Tremor, Parkinsonism |
OMIM:616361 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Optic atrophy, Skeletal muscle atrophy |
ORPHA:477814 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Limb ataxia, Spasticity, Ataxia, Skeletal muscle atrophy, Poor coordination |
OMIM:617695 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Parkinsonism, Tremor, Hypotension |
ORPHA:178509 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fi... |
OMIM:613327 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Babinski sign, Spasticity, Tremor, Optic disc pallor, Spastic paraplegia, Ataxia, CNS hypomyelina... |
OMIM:618527 |
| Progressive Supranuclear Palsy |
|
Bradykinesia, Falls, Tremor, Blepharospasm, Abnormal synaptic transmission, Rigidity, Dystonia, U... |
ORPHA:683 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Myoclonus, Cataract, Dysmetria, Slurred speech |
OMIM:256550 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Joint contracture, Skeletal muscle atrophy |
OMIM:615704 |
| Tick-Borne Encephalitis |
|
Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morpho... |
ORPHA:297 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... |
OMIM:310300 |
| Igg4-Related Pachymeningitis |
|
Abnormality of the brachial nerve plexus, Abnormality of cervical plexus, Lower limb muscle weakn... |
ORPHA:449427 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Lower limb spasticity, Foot joint contracture, Tremor, Absent brainstem auditory r... |
ORPHA:90321 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... |
ORPHA:3337 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebral atrophy, Type 2 muscle fiber predominance, Cerebellar atrophy, Dystonia, Ataxia, Skeleta... |
OMIM:615471 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... |
ORPHA:439232 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Aids Wasting Syndrome |
|
Skeletal muscle atrophy |
ORPHA:90081 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:618060 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypertonia, Hypsarrhythmia, Tremor, Flexion contracture, Cataract |
OMIM:608093 |
| Hurler Syndrome |
|
Abnormal nerve conduction velocity, Corneal opacity, Cerebral palsy, Camptodactyly of finger, Abn... |
ORPHA:93473 |
| Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dys... |
OMIM:168600 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi... |
OMIM:168000 |
| D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Cerebral dysmyelination, Cerebellar atrophy, Corpus callosum... |
OMIM:261515 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Babinski sign, Lower limb spasticity, Hand apraxia, CNS hypomyelination, Spastic paraparesis |
ORPHA:280229 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Flexion contracture of digit, Decreased muscle mass, Spastic paraparesis, Hand tremor, Blue iride... |
ORPHA:3041 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebral atrophy, Hypertonia, Tetraplegia, Spasticity, Corneal opacity, Subcortical cerebral atro... |
ORPHA:2396 |
| Niemann-Pick Disease, Type A |
|
Spasticity, Athetosis, Rigidity, Skeletal muscle atrophy, Delayed CNS myelination |
OMIM:257200 |
| Scorpion Envenomation |
|
Prominent U wave, Hypertension, Premature ventricular contraction, Ataxia, Myoclonus, T-wave inve... |
ORPHA:466677 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... |
OMIM:615422 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cerebral atrophy, Acute rhabdomyolysis, Optic atrophy, Clonus, Gait ataxia, Rhabdomyolysis, Dysto... |
OMIM:616878 |
| Perry Syndrome |
|
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait |
OMIM:168605 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Distal amyotrophy, Upper limb muscle... |
ORPHA:101000 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Cockayne Syndrome Type 3 |
|
Corneal ulceration, Brain atrophy, Microcornea, Demyelinating peripheral neuropathy, Peripheral a... |
ORPHA:90324 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait ataxia, Rigidity, Ataxia, Hypertonia, Resting tremor, Tremor, Osteoporosis, Ventricular arrh... |
ORPHA:254892 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Dent Disease |
|
Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Gly... |
ORPHA:1652 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Congenital Myopathy 22A, Classic |
|
Bradycardia, Waddling gait, Frequent falls, Congenital finger flexion contractures, Osteoporosis,... |
OMIM:620351 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
| Glutamine Deficiency, Congenital |
|
Bradycardia, Camptodactyly, Hyperammonemia, Flexion contracture, Hypoglutaminemia |
OMIM:610015 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Hyperkinetic movements, Interictal epileptiform activity, Truncal ataxia, Neuronal loss in centra... |
OMIM:300243 |
| Glycogen Storage Disease Iv |
|
Abnormal circulating creatine kinase concentration, Bradycardia, Cardiomyopathy, Portal hypertens... |
OMIM:232500 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hyperkinetic movements, Spasticity, Tremor, Zonular cataract, Dystonia, Ataxia, Opisthotonus, Fle... |
OMIM:616271 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Neonatal hypoglycemia, Bradycardia, ST segment elevation, Cardiomyopath... |
OMIM:261740 |
| Jaberi-Elahi Syndrome |
|
Optic atrophy, Appendicular spasticity, Tremor, Gait ataxia, Dystonia, Cataract, Choreoathetosis,... |
OMIM:617988 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism, Rigidity |
OMIM:614251 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, EMG: myopathic abnormalities, Achilles tendon contracture, Skeletal mus... |
OMIM:615418 |
| Epidermal Nevus Syndrome |
|
Babinski sign, Hypertonia, Astigmatism, Rhabdomyosarcoma, Atrophy of the spinal cord, Progressive... |
ORPHA:35125 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Optic atrophy, Lower limb spasticity, Brain atrophy, Atrophy of the spinal cord, Upper motor neur... |
ORPHA:395 |
| Adult-Onset Dystonia-Parkinsonism |
|
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... |
ORPHA:199351 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Limb hypertonia, Spasticity, Ataxia, Skeletal muscle atrophy, Flexion contr... |
ORPHA:481152 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Truncal ataxia, Spasticity, Tremor, CNS demyelination, Peripheral demyelination, Dystonia, Ataxia... |
OMIM:220111 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Spinal muscular atrophy, Myopathy, Weakness of facial musculature, Skeletal muscle atrophy |
ORPHA:254875 |
| Leigh Syndrome |
|
Optic atrophy, Hyperkinetic movements, Multiple joint contractures, Abnormality of extrapyramidal... |
ORPHA:506 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
| Multiple Sulfatase Deficiency |
|
Cataract, Optic atrophy, Corneal opacity, Abnormality of peripheral nerve conduction |
ORPHA:585 |
| Cerebral Visual Impairment |
|
Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Central nervous system degeneration, C... |
ORPHA:447788 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Reduced bone mineral density, Hypocalcemia, Tremor, Pulmonary arterial hypertensio... |
ORPHA:667 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Peripheral hypomyelination, Chronic axonal neuropathy, Dysdiadochokinesis, Cerebellar atrophy, In... |
OMIM:612780 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Babinski sign, Hypertonia, Paroxysmal dystonia, Speech apraxia, Arm dystonia, Neurodegeneration |
ORPHA:79244 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Fasting hypoglycemia, Chorea, Tremor, Athetosis, Poor motor coordination, Retinal hemorrhage, Lim... |
ORPHA:25 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Hypophosphatemia, Monostotic fibrous dysplas... |
ORPHA:562 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Skeletal muscle atrophy, Oculomotor apraxia |
OMIM:619759 |
| Gaucher Disease, Type Iii |
|
Spastic paraparesis, Ataxia, Myoclonus |
OMIM:231000 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Myopathy, Skeletal muscle atrophy |
ORPHA:157973 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Paraganglioma, Glomus jugular tumor... |
OMIM:605373 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Rhabdomyolysis |
OMIM:188580 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Oculomotor apraxia, Transient hyperphenylalaninemia, Spasticity, Tremor, Hyper... |
OMIM:612716 |
| Migraine, Familial Hemiplegic, 2 |
|
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria |
OMIM:602481 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Abnormal blood ion concentration |
ORPHA:411629 |
| Myopathy, Mitochondrial, And Ataxia |
|
Limb ataxia, Difficulty walking, Inability to walk, Truncal ataxia, Dysdiadochokinesis, Tremor, E... |
OMIM:617675 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... |
OMIM:620138 |
| Mercury Poisoning |
|
Hypokalemia, Tremor, Hypertension, Hypotension, Dystonia, Tachycardia |
ORPHA:330021 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Sensory axonal neuropathy, Skeletal muscle atrophy |
OMIM:300614 |
| Wild Type Attr Amyloidosis |
|
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... |
ORPHA:330001 |
| Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Hypovolemia, Glycosuria, Hyponatremia, Hypophosphatemia,... |
ORPHA:411634 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Recurrent fractures, Calcinosis |
OMIM:239200 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Rhabdomyolysis, Tremor, Ataxia |
ORPHA:79095 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Extra... |
ORPHA:67036 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... |
OMIM:618056 |
| Glioblastoma |
|
Paralysis |
ORPHA:360 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Inhalational Botulism |
|
Paralysis, Mydriasis |
ORPHA:254504 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EMG... |
ORPHA:502423 |
| Refsum Disease |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Ataxia, Skeletal muscle atrophy, Cataract |
ORPHA:773 |
| Serotonin Syndrome |
|
Mydriasis, Hypertonia, Tremor, Clonus, Abnormality of the autonomic nervous system, Rigidity, Rha... |
ORPHA:43116 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Delayed CNS myelination |
OMIM:618603 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy |
ORPHA:684 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Bradycardia, Tetraplegia, Increased circulating free fatty acid level, ... |
OMIM:610768 |
| Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
| Wolfram Syndrome 1 |
|
Cataract, Optic atrophy, Tremor, Ataxia |
OMIM:222300 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Dystonia, Ataxia, Skeletal musc... |
OMIM:256810 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Upper motor neuron dysfunction, Skeletal muscle atrophy, Limb joint contracture |
OMIM:612079 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Restrictive cardiomyopathy, Tremor, Elevated circulating creatine kinase concentration, Hypertrop... |
OMIM:619424 |
| Congenital Myopathy 19 |
|
Facial hypotonia, Skeletal muscle atrophy, Congenital contracture |
OMIM:618578 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration, Delayed CNS myelination |
OMIM:620210 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Bradykinesia, Hypomimic face, Hypertonia, Truncal ataxia, Poor fine motor coordination, Dysdiadoc... |
ORPHA:309854 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Muscular dystrophy, Calf muscle hypertrophy, Exaggerated startle response, Skeleta... |
OMIM:253800 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... |
OMIM:610256 |
| Renpenning Syndrome |
|
Cataract, Skeletal muscle atrophy, Iris coloboma |
ORPHA:3242 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
| Severe Congenital Nemaline Myopathy |
|
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... |
ORPHA:171430 |
| Aicardi-Goutières Syndrome |
|
Hypertonia, Developmental glaucoma, Abnormality of extrapyramidal motor function, Brain atrophy, ... |
ORPHA:51 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin concentratio... |
ORPHA:95716 |
| Postpoliomyelitis Syndrome |
|
Fasciculations, Skeletal muscle atrophy |
ORPHA:2942 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Rhabdomyolysis, Tremor, Ataxia, Myopathy |
ORPHA:713 |
| Pearson Syndrome |
|
Hypokalemia, Hypocalcemia, Cardiomyopathy, Hyperalaninemia, Glycosuria, Cardiac conduction abnorm... |
ORPHA:699 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... |
OMIM:225200 |
| Proximal Spinal Muscular Atrophy |
|
Difficulty walking, Inability to walk, Bradycardia, Tongue fasciculations, Elbow flexion contract... |
ORPHA:70 |
| Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
| Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Skeletal muscle atrophy |
ORPHA:2028 |
| Oxoglutaric Aciduria |
|
Hypertonia, Ataxia, Skeletal muscle atrophy |
ORPHA:31 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebral atrophy, Babinski sign, Hypertonia, Spasticity, Skeletal muscle atrophy, Delayed CNS mye... |
OMIM:615802 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma |
OMIM:216820 |
| Ataxia-Telangiectasia |
|
Progressive cerebellar ataxia, Glucose intolerance, Inability to walk, Dysdiadochokinesis, Tremor... |
OMIM:208900 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Babinski sign, Ataxia, Skeletal muscle atrophy, Flexion contracture, Delayed CNS myelination, Tet... |
OMIM:300232 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent corneal erosions, Orthostatic hypotension, Corneal ulceration, Incoordination, Decrease... |
OMIM:223900 |
| Alexander Disease |
|
Osteopenia, Chorea, Tetraplegia, Hypertension, Tremor, Hypotension, Spasticity, Clonus, Gait dist... |
ORPHA:58 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Contractures of the large joints, Developmental cataract, Skeletal muscle atrophy |
OMIM:616716 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Bradycardia, Hypotension, Hyponatremia, Hyperglycemia, Shock |
ORPHA:391673 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Spastic gait, Babinski sign, Spastic dysarthria, Tremor, Lower limb hypertonia, Developmental cat... |
ORPHA:447753 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy, Microcorne... |
OMIM:255800 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Tip-toe gait, Elevated plasma citrulline, Hyperglutamatemia, Tremor, Increased s... |
ORPHA:3008 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne... |
ORPHA:276621 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Decreased nerve conduction velocity, Flexion contracture of digit, Corneal opacity... |
ORPHA:580 |
| Schwannomatosis, Vestibular |
|
Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opacities, Peripheral s... |
OMIM:101000 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Congenital diaphragmatic hernia, Cerebellar atrophy, Conjunctival telangiectasia, Joint contractu... |
OMIM:615919 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebral atrophy, Hypertonia, Cerebral cortical neurodegeneration, Neuronal loss in central nervo... |
OMIM:203700 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Hypertonia, Tremor, Opisthotonus |
OMIM:250800 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Muscular dystrophy, Microcornea, Aplasia/Hypoplasia involving the skeletal muscula... |
ORPHA:899 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Delayed myelination, Spastic paraparesis, Severe demyelination of the white matter |
ORPHA:391408 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Muscular dystrophy, Myopathy, Lower limb muscle weakness |
OMIM:615980 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Babinski sign, Truncal ataxia, Spasticity, Cerebellar atrophy, Cerebral cortical atrophy, Lower l... |
OMIM:301072 |
| Triosephosphate Isomerase Deficiency |
|
Cerebral atrophy, Spasticity, Tremor, Dystonia, Skeletal muscle atrophy, Myopathy, Optic disc pallor |
OMIM:615512 |
| Rett Syndrome |
|
Bradykinesia, Limb apraxia, Abnormal autonomic nervous system physiology, Dystonia, Skeletal musc... |
ORPHA:778 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia |
ORPHA:405 |
| Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... |
OMIM:259775 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Pathologic fracture, Abnormality of extrapyramidal motor func... |
OMIM:612199 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Hypertonia, Tremor, Spasticity, Rigidity |
OMIM:176500 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Myopathy |
OMIM:615511 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Absent ossification of capital femoral epiphysis, Delayed epiphyseal ossification, Bradycardia |
ORPHA:226313 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypertonia, Spasticity, Cerebral palsy, Ataxia, Spastic paraparesis, Abnormal central motor function |
ORPHA:760 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Corneal neovascularization, Spasticity, Keratitis, Ataxia, Conjunctivitis, Cataract, Choreoatheto... |
OMIM:278730 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Tongue fasciculations, Exaggerated startle response, Bradycardia |
OMIM:608800 |
| Cystinosis, Nephropathic |
|
Rickets, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulatin... |
OMIM:219800 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Shortened QT interval, Hypophosphatemia, Osteoporosis |
ORPHA:99880 |
| Alternating Hemiplegia Of Childhood |
|
Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Tremor, Cardiomyopathy, Rigidity, Cardiac cond... |
ORPHA:2131 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Ataxia, Myopathy, Skeletal muscle atrophy |
ORPHA:42 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Gastrointestinal hemorrhage, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Hypop... |
OMIM:229600 |
| Immunodeficiency 115 With Autoinflammation |
|
Fatty replacement of skeletal muscle, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:620632 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Shortened QT interval, Hypophosphatemia, Osteoporosis |
ORPHA:143 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
EEG abnormality, Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, ... |
ORPHA:29072 |
| Immune-Mediated Necrotizing Myopathy |
|
Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Skeletal muscle ... |
ORPHA:206569 |
| Tyrosinemia Type 2 |
|
Tremor, Corneal opacity, Ataxia |
ORPHA:28378 |
| Synaptic Congenital Myasthenic Syndromes |
|
Scapular winging, Facial palsy, Frequent falls, Hand muscle weakness, Decreased size of nerve ter... |
ORPHA:98915 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy |
ORPHA:156 |
| Eales Disease |
|
Spastic paraparesis, Rubeosis iridis, Optic disc pallor |
ORPHA:40923 |
| Trisomy 17P |
|
Hypertonia, Flexion contracture, Skeletal muscle atrophy, Cataract, Macroglossia |
ORPHA:261290 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension, Hypophosphatemia, Azotemia |
OMIM:104200 |
| Arnold-Chiari Malformation Type I |
|
Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner... |
ORPHA:268882 |
| Ruijs-Aalfs Syndrome |
|
Cataract, Posterior subcapsular cataract, Elbow flexion contracture, Skeletal muscle atrophy |
OMIM:616200 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Spasticity, Rigidity, Ataxia, Spastic tetraplegia, Neurodegeneration |
OMIM:618476 |
| Oculopharyngodistal Myopathy 1 |
|
Brain atrophy, Distal amyotrophy, Rimmed vacuoles, Tremor, Autophagic vacuoles, Facial palsy, EMG... |
OMIM:164310 |
| Norrie Disease |
|
Optic atrophy, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Le... |
OMIM:310600 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Hypertension, Tremor, Ataxia, Unsteady gait, Abno... |
OMIM:614947 |
| Encephalitis Lethargica |
|
Stiff neck, Tremor, Parkinsonism, Bradycardia |
ORPHA:83600 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... |
ORPHA:216694 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Spastic paraparesis, Posterior subcapsular cataract, Astigmatism, Bilateral camptodactyly |
OMIM:619234 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Arthritis, Osteomalacia, Clonus, Joint stiffness, Hyponatremia, Hypophosphatemia, Jo... |
ORPHA:534 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
| Coffin-Lowry Syndrome |
|
Optic atrophy, Hypertonia, Progressive spasticity, Cerebral cortical atrophy, Skeletal muscle atr... |
ORPHA:192 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Frequent falls, Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal muscle a... |
OMIM:255125 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Cerebral atrophy, Skeletal muscle atrophy |
OMIM:245400 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Bradycardia, Abnormality of extrapyramidal motor function, Hyperhomocysti... |
OMIM:277400 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Arthrogryposis multiplex congenita, Cerebral cortical atrophy, Flexion contracture, Skeletal musc... |
OMIM:618291 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
| Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... |
OMIM:106210 |
| Niemann-Pick Disease Type C |
|
Abnormal CNS myelination, Lower limb spasticity, Axial dystonia, Chorea, Aplasia/Hypoplasia of th... |
ORPHA:646 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Limb muscle weakness, Limb-girdle muscle weakness, Presenile cataracts, Skeletal muscle atrophy, ... |
OMIM:112250 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:606631 |
| Kennedy Disease |
|
Skeletal muscle atrophy |
ORPHA:481 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Early Infantile Epileptic Encephalopathy |
|
EEG with spike-wave complexes, Hypsarrhythmia, Spasticity, Tremor, Uni- and bilateral multifocal ... |
ORPHA:1934 |
| Porphyria, Acute Intermittent |
|
Paralysis, Respiratory paralysis |
OMIM:176000 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cataract, Camptodactyly of toe, Skeletal muscle atrophy |
ORPHA:127 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy |
OMIM:253310 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Babinski sign, Ragged-red muscle fibers, Tongue fasciculations, Spasticity, Undetectable visual e... |
OMIM:252010 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Vocal cord paralysis, Schwannoma, Abnormal glossopharyngeal nerve morp... |
ORPHA:221098 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Cerebral atrophy, Multifocal epileptiform discharges, Skeletal muscle atrophy |
OMIM:614300 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2840 |
| Supranuclear Palsy, Progressive, 1 |
|
Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Axial dystonia, Falls, Tremor, Limb dystonia... |
OMIM:601104 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
| Biotinidase Deficiency |
|
Optic atrophy, Optic neuropathy, Limb muscle weakness, Ataxia, Conjunctivitis, Spastic paraparesis |
ORPHA:79241 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Limited hip extension, Tachyc... |
OMIM:614653 |
| Foix-Alajouanine Syndrome |
|
Distal lower limb muscle weakness, Frequent falls, Progressive spastic paraparesis, Distal lower ... |
ORPHA:79093 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy |
ORPHA:3068 |
| 12Q14 Microdeletion Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:94063 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Facial palsy, Skeletal muscle atrophy |
OMIM:617143 |
| Oculodentodigital Dysplasia |
|
Optic atrophy, Abnormality iris morphology, Microcornea, Spasticity, Camptodactyly of finger, Ata... |
ORPHA:2710 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
| Cocaine Intoxication |
|
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Tremor, Hypote... |
ORPHA:90068 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Stiff neck, Elevated circulating C-reactive protein concentration, Bradycardia, Rest... |
ORPHA:319213 |
| Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal hypoglycemia, Hypertonia, Bradycardia, Tremor, Clonus, Dystonia |
OMIM:617248 |
| Argininemia |
|
Spastic gait, Cerebellar atrophy, Frequent falls, Spastic paraparesis, Progressive spastic quadri... |
OMIM:207800 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Cerebral atrophy, Hypertonia, Hyperkinetic movements, Ragged-red muscle fibers, Increased variabi... |
ORPHA:17 |
| Neu-Laxova Syndrome |
|
Muscular dystrophy, Pterygium, Aplasia/Hypoplasia involving the skeletal musculature, Opisthotonu... |
ORPHA:2671 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyseal ossificati... |
ORPHA:90673 |
| Melorheostosis |
|
Skeletal muscle atrophy |
ORPHA:2485 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:368 |
| Hyperferritinemia With Or Without Cataract |
|
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract |
OMIM:600886 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Pectoralis hypoplasia, Hypoplasia of the musculature, Facial palsy, Skeletal muscle atrophy, Flex... |
OMIM:254940 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea... |
ORPHA:90674 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Difficulty walking, Distal sensory impairment, Impaired temperature sensation, Hyperesthesia, Abn... |
ORPHA:642 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypertrophic ca... |
OMIM:618775 |
| Andersen-Tawil Syndrome |
|
Periodic paralysis, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis |
ORPHA:37553 |
| Hurler Syndrome |
|
Abnormal CNS myelination, Corneal opacity, Flexion contracture, Opacification of the corneal stro... |
OMIM:607014 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Opisthotonus, Cerebral palsy, Skeletal muscle atrophy |
OMIM:210210 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatinine concentration, Hypokalemia, Bradycardia, Capillary leak, Arthriti... |
ORPHA:99826 |
| Bohring-Opitz Syndrome |
|
Failure to thrive, Delayed peripheral myelination |
OMIM:605039 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Skeletal muscle atrophy |
ORPHA:75496 |
| 7Q31 Microdeletion Syndrome |
|
Speech apraxia, Torticollis, Skeletal muscle atrophy |
ORPHA:251061 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:230839 |
| Sheehan Syndrome |
|
Orthostatic hypotension, Bradycardia, Hyponatremia, Palpitations, Hypoglycemia |
ORPHA:91355 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:435638 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... |
OMIM:620278 |
| Say-Barber-Miller Syndrome |
|
Optic atrophy, Babinski sign, Knee flexion contracture, Elbow flexion contracture, Lingual dyston... |
ORPHA:3132 |
| Gitelman Syndrome |
|
Paralysis, Rhabdomyolysis, Ataxia |
OMIM:263800 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
| Duane Retraction Syndrome |
|
Aniridia, Oculomotor apraxia, Microcornea, Blepharospasm, Camptodactyly, Hypoplastic iris stroma,... |
ORPHA:233 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Macroglossia, Neurodegeneration, Flexion contracture |
OMIM:309900 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy |
OMIM:607598 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Limb ataxia, Hypertonia, Oculomotor apraxia, Corneal opacity, Spastic paraplegia, Papilledema, Pa... |
ORPHA:2072 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Bradycardia |
OMIM:617397 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Keratoconus, Abnormal autonomic nervous system physiology, T... |
ORPHA:285 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Scapular winging, Periodic hypokalemic paresis |
OMIM:170390 |
| Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormality of peripheral nerve conduction, Ataxia |
OMIM:601992 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Bradycardia, Fasciculations, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, M... |
ORPHA:99827 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Abnormal muscle glycogen content, Myopathy, Skeletal muscle atrophy |
ORPHA:367 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebral atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Delayed myelination |
OMIM:608779 |
| African Trypanosomiasis |
|
Iritis, Fasciculations, Tremor, Involuntary movements, Hemiparesis, Papilledema, Keratitis, Conju... |
ORPHA:3385 |
| Tbck-Related Intellectual Disability Syndrome |
|
Global brain atrophy, Diastasis recti, Corneal opacity, Skeletal muscle atrophy, Macroglossia, EE... |
ORPHA:488632 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia of the pectoralis major muscle, Facial palsy, Myopathy, Skeletal muscle atrophy |
ORPHA:1358 |
| Schwartz-Jampel Syndrome |
|
Hypertonia, Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy... |
ORPHA:800 |
| Bohring-Opitz Syndrome |
|
Fixed elbow flexion, Inability to walk, Bradycardia, Limitation of joint mobility, Bilateral wris... |
ORPHA:97297 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Elevated circulating C-reactive protein concentration, Bradycardia |
ORPHA:90051 |
| Mucopolysaccharidosis, Type Vii |
|
Diastasis recti, Corneal opacity, Flexion contracture, Macroglossia, Neurodegeneration |
OMIM:253220 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Pterygium, Camptodactyly of finger, A... |
ORPHA:2990 |
| Pineoblastoma |
|
Paralysis, Papilledema |
ORPHA:251909 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Camptodactyly, Skeletal muscle atrophy, Nuclear cataract, Arthrogryposis multiplex congenita, Joi... |
OMIM:601701 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Facial palsy, Corneal opacity, Skeletal muscle atrophy, A... |
ORPHA:570 |
| Werner Syndrome |
|
Cataract, Skeletal muscle atrophy |
ORPHA:902 |
| Becker Muscular Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:98895 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
| Pierson Syndrome |
|
Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Rieger ... |
OMIM:609049 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Rhabdomyolysis, Scapular winging, Skeletal muscle atrophy, Increased intramyocellular lipid droplets |
ORPHA:26791 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Delayed peripheral myelination |
ORPHA:364577 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Flexion contracture, Skeletal muscle atrophy |
OMIM:619183 |
| Leprosy |
|
Abnormal seventh cranial physiology, Iritis, Enlarged peripheral nerve, Corneal ulceration, Abnor... |
ORPHA:548 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Congenital muscular torticollis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Ske... |
ORPHA:2215 |
| Frontometaphyseal Dysplasia 1 |
|
Ankle flexion contracture, Hypoplasia of the musculature, Elbow flexion contracture, Scapular win... |
OMIM:305620 |
| Steinert Myotonic Dystrophy |
|
Posterior subcapsular cataract, Astigmatism, Abnormality of masticatory muscle, Peripheral axonal... |
ORPHA:273 |
| Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy |
OMIM:614856 |
| Donohue Syndrome |
|
Skeletal muscle atrophy |
OMIM:246200 |
| Pontocerebellar Hypoplasia Type 7 |
|
Optic atrophy, Hypertonia, Fasciculations, Spasticity, Involuntary movements, Skeletal muscle atr... |
ORPHA:284339 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skeletal muscle atrophy |
OMIM:615934 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Keratoconjunctivitis sicca |
OMIM:620370 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness, Skeletal muscle atrophy |
ORPHA:79240 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy |
OMIM:219080 |
| Camurati-Engelmann Disease |
|
Optic nerve compression, Skeletal muscle atrophy, Cranial nerve compression |
OMIM:131300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Cerebral atrophy, Optic atrophy, Camptodactyly, Skeletal muscle atrophy, Flexion contracture, Poo... |
OMIM:309590 |
| Graft Versus Host Disease |
|
Myositis, Dupuytren contracture, Skeletal muscle atrophy |
ORPHA:39812 |
| Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
| Localized Scleroderma |
|
Flexion contracture, Myopathy, Skeletal muscle atrophy |
ORPHA:90289 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Corneal erosion, Skeletal muscle atrophy |
ORPHA:89842 |
| Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at... |
ORPHA:168572 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed proximal femoral epiphyseal ossification, Hypoglycemia, Bradycardia |
ORPHA:226307 |
| Gitelman Syndrome |
|
Paralysis, Rhabdomyolysis |
ORPHA:358 |
| Yellow Fever |
|
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru... |
ORPHA:99829 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy |
ORPHA:90045 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Microcornea, Type 1 muscle fiber predominance, Myopathy, Skeletal muscle atrophy |
OMIM:614557 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased sarcoplasmic glycogen, Skeletal muscle atrophy |
ORPHA:264580 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy |
OMIM:219090 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal blood ion concentration, Dilated cardiomyopathy, Osteoporosis, Bradycardia |
ORPHA:79404 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Microcornea, Developmental cata... |
OMIM:300166 |
| Camurati-Engelmann Disease |
|
Optic atrophy, Optic nerve compression, Facial palsy, Ataxia, Skeletal muscle atrophy |
ORPHA:1328 |
| Congenital Myopathy 13 |
|
Weakness of facial musculature, Flexion contracture, Skeletal muscle atrophy, Increased intramyoc... |
OMIM:255995 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Bradycardia |
OMIM:218700 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:109 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Hypertonia, Optic nerve hypoplasia, Spasticity, Spastic tetraparesis, Neurodegeneration |
OMIM:620455 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy |
OMIM:615895 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Cerebral atrophy, Skeletal muscle atrophy |
OMIM:618252 |
| Stickler Syndrome |
|
Astigmatism, Hemiplegia/hemiparesis, Ectopia lentis, Skeletal muscle atrophy, Cataract, Macroglossia |
ORPHA:828 |
| Tsh-Secreting Pituitary Adenoma |
|
Periodic hypokalemic paresis, Tremor |
ORPHA:91347 |
| Marfan Syndrome |
|
Lens luxation, Hypoplasia of the iris, Ectopia lentis, Flat cornea, Skeletal muscle atrophy, Lens... |
ORPHA:558 |
| Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
| Marden-Walker Syndrome |
|
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of finge... |
ORPHA:2461 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Rhabdomyosarcoma, Neurodegeneration |
OMIM:251260 |
| Bardet-Biedl Syndrome |
|
Astigmatism, Aganglionic megacolon, Spasticity, Ataxia, Skeletal muscle atrophy, Cataract |
ORPHA:110 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of toe, Elbow flexion contracture, Punctate opacification of the cornea, Camp... |
OMIM:256040 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Microcornea, Myopathy, Skeletal muscle atrophy |
ORPHA:536545 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, J... |
OMIM:614437 |
| Primrose Syndrome |
|
Distal amyotrophy, Posterior polar cataract, Hip contracture, Ataxia, Skeletal muscle atrophy, Fl... |
OMIM:259050 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1969 |
| Immunodeficiency 31C |
|
Skeletal muscle atrophy |
OMIM:614162 |
| Atypical Werner Syndrome |
|
Calf muscle hypertrophy, Developmental cataract, Skeletal muscle atrophy, Abnormality of the Achi... |
ORPHA:79474 |
| Nijmegen Breakage Syndrome |
|
Rhabdomyosarcoma, Skeletal muscle atrophy |
ORPHA:647 |
| Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3260 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy |
OMIM:222700 |
| Leprechaunism |
|
Skeletal muscle atrophy |
ORPHA:508 |
