| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... |
OMIM:611228 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
DECIPHER:29 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Proximal ... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal lower limb muscle weakness, Fatty replacement of skeletal muscle, Decreased compound muscl... |
OMIM:618279 |
| Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... |
ORPHA:280234 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... |
OMIM:162500 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Cerebella... |
OMIM:302800 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... |
OMIM:610100 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609311 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Decreased... |
OMIM:619112 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Peripheral axonal neurop... |
ORPHA:99953 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ... |
OMIM:600361 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelinat... |
ORPHA:431329 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
ORPHA:90103 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty walking, Axonal ... |
OMIM:608323 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Acute demyelinating polyneu... |
ORPHA:101081 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... |
OMIM:605726 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neurop... |
ORPHA:101077 |
| Triose Phosphate-Isomerase Deficiency |
|
Central nervous system degeneration, Skeletal muscle atrophy, Decreased nerve conduction velocity... |
ORPHA:868 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Lower limb muscle weakness, F... |
OMIM:615575 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... |
OMIM:615376 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... |
OMIM:605285 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i... |
ORPHA:99944 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion con... |
OMIM:611105 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio... |
OMIM:618404 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fas... |
OMIM:183050 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Somatic sensory dysfunction, Decr... |
ORPHA:99939 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
ORPHA:101097 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Cataract, Ataxia, Decreased nerve conduction velocity, Achilles tendon contra... |
OMIM:612674 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
OMIM:618912 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Upp... |
OMIM:606595 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... |
OMIM:620378 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... |
OMIM:605253 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo... |
OMIM:182815 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Uppe... |
OMIM:612577 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Developmental cataract, Hypertonia |
ORPHA:1368 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Distal amyotrophy, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb spasticity, Demyelinating motor neuropathy, Babinski sign, Spasti... |
OMIM:615658 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi... |
OMIM:606483 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Babinski sign, Spastic para... |
OMIM:612335 |
| Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Ataxia, Limb tremor, Brain atrophy, S... |
OMIM:614877 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm... |
ORPHA:65684 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... |
ORPHA:276435 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Distal sensory impairment |
OMIM:616039 |
| 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 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Hand tr... |
ORPHA:352675 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ... |
OMIM:615185 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617672 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Babinski sign, Spastic paraplegia, Lower limb amyotrophy, Upper limb muscle weakness, Lower limb ... |
OMIM:617046 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Decreased m... |
OMIM:600882 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Skeletal muscle atrophy, Cataract, Decreased nerve conduction velocity, Choreoathetosis, Leukodys... |
OMIM:614932 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Broad-based gait, Impaired pain sensation, Decreased nerve conducti... |
ORPHA:435387 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:302801 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Developmental glaucoma, Spastic paraplegia, Developmental cataract, Abnormality of p... |
ORPHA:101005 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Truncal titubation, Babins... |
OMIM:610532 |
| Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... |
ORPHA:497764 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
| Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postural tremor, Babinski sig... |
ORPHA:3115 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle weakness, The... |
OMIM:614751 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Hand muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Quadriceps mu... |
ORPHA:99948 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Upper limb muscle weakness, Distal amyotrophy, ... |
OMIM:302802 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... |
OMIM:619279 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... |
ORPHA:100998 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Skeletal muscle atrophy, Decreased nerve conduction velocity, Ataxia |
ORPHA:101078 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Abnormal nerve conductio... |
ORPHA:99014 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Tremor, Distal upper limb amyotrophy, Abnormal nerve conduc... |
ORPHA:101075 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Generalized amyotro... |
ORPHA:401820 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ... |
OMIM:270685 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased mo... |
OMIM:613287 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher... |
OMIM:249900 |
| Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Abnor... |
ORPHA:101082 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral demyelination, ... |
DECIPHER:59 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Chronic axonal neuropathy |
OMIM:182960 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations |
OMIM:182980 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Axonal loss, Dystonia, Peripheral demyelination |
OMIM:616684 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Acute rhabdomy... |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... |
OMIM:613641 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:612539 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... |
OMIM:162400 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Triceps weakness, Quadriceps muscle weak... |
ORPHA:482601 |
| 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 |
|
Ankle flexion contracture, Babinski sign, Spastic paraplegia, Optic atrophy, Knee flexion contrac... |
OMIM:615043 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ... |
OMIM:311070 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| 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 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... |
ORPHA:219 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Cataract, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral ... |
ORPHA:401830 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb... |
OMIM:615035 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... |
ORPHA:320370 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista... |
OMIM:607731 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Ankle clonus, ... |
OMIM:610250 |
| Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
| Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Ataxia, Babinski sign, Scissor gait, Distal amyotrophy, Leg muscle stiffne... |
ORPHA:101010 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, I... |
OMIM:614436 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Clonus, Babinski sign, Spasticity, Spastic gait |
OMIM:615681 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph... |
OMIM:607791 |
| Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... |
ORPHA:309169 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign |
ORPHA:357043 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations |
OMIM:615048 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:457205 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception |
ORPHA:231445 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal amyotrophy, Cerebellar vermis atrophy |
OMIM:617018 |
| Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Cataract |
ORPHA:1766 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hy... |
OMIM:245200 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia |
OMIM:615686 |
| Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Spastic paraparesis |
OMIM:312910 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystr... |
OMIM:614561 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... |
OMIM:608804 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Prolonged central motor conduction time, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia |
OMIM:616282 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Upper li... |
ORPHA:139536 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
| Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo... |
OMIM:616287 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Babinski sign, Spastic paraplegia, Distal amyo... |
ORPHA:139578 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... |
ORPHA:101085 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Abnormal left ventricular function, Hypoca... |
ORPHA:36913 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Lower limb spasticity, Skeletal muscle atrophy, Clonus, Knee flexion contracture, Spastic gait |
ORPHA:401785 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:600794 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Tip-toe gait, Unsteady gait, EEG with gen... |
ORPHA:2386 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dysd... |
OMIM:614487 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S... |
OMIM:610357 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Spasticity, Hypertonia, Scissor gait |
ORPHA:401805 |
| Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Abnormal peripheral nervous system morphology, Distal amyotrophy, Spinal muscular atrophy |
OMIM:300489 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... |
OMIM:619862 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperpho... |
OMIM:145600 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Postural tremor, Upper limb amyotrophy, Distal lower l... |
ORPHA:99950 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor fun... |
ORPHA:101001 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... |
OMIM:253550 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... |
ORPHA:488594 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemi... |
ORPHA:94090 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign... |
OMIM:607317 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Ankle clonus, ... |
OMIM:611225 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent... |
ORPHA:2589 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:601472 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... |
ORPHA:100985 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment |
OMIM:607736 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Delayed myelinat... |
ORPHA:319514 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Peripheral axonal neuropathy, Hand muscle weakness, Distal amyotrophy, Foot ... |
OMIM:616280 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Optic atrophy, Impaired vibration sensation in the lower limbs, Impaire... |
OMIM:609033 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dysto... |
OMIM:614860 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, EEG abnormal... |
OMIM:606777 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... |
OMIM:619519 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Cataract, Limb ataxia, Gait ataxia, Spastic gait |
OMIM:617133 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... |
OMIM:616687 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Babinski sign, Abnormal pyrami... |
OMIM:616688 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Optic disc pallor, Clasp-knife sign, Tibialis anterior muscle atrop... |
ORPHA:101076 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Neurodegeneration, Spas... |
OMIM:615643 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Pe... |
OMIM:270550 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... |
OMIM:256840 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Developmental cataract |
OMIM:615683 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hemiplegia/hemiparesis, Cataract, Ataxia, Spastic paraparesis |
ORPHA:2815 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Fatty ... |
ORPHA:329478 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibration sensation in the l... |
OMIM:159550 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract, Flexion contra... |
OMIM:619851 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy |
OMIM:608895 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle ... |
OMIM:609115 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal muscle fibers, A... |
OMIM:271150 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Distal amyotrophy... |
ORPHA:468661 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Tetraparesis, Tongue fasciculation... |
OMIM:618276 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Distal lower limb amyotrophy, Cataract |
ORPHA:73245 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma... |
OMIM:613608 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... |
OMIM:617207 |
| Spastic Paraplegia 2, X-Linked |
|
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria... |
ORPHA:313772 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... |
OMIM:604484 |
| Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... |
OMIM:500002 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Optic atrophy,... |
OMIM:613162 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Foot dorsiflexor weakness, Flexion con... |
OMIM:619216 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Lower-limb joint contracture, Paralysis |
OMIM:613710 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto... |
OMIM:617854 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve... |
OMIM:604320 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
| Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Peripheral demyelination, Paraplegia |
ORPHA:71211 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, EEG abnormality, Axonal loss, Myoclonus, Apraxi... |
OMIM:221770 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... |
ORPHA:206448 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
| Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Vocal cord par... |
ORPHA:397744 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Postural tremor, Chorea, Slurred speech, O... |
ORPHA:98755 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Neuromyotonia, Fasciculations, Sensory axonal neuropathy, Foot dorsiflex... |
OMIM:137200 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Truncal ... |
OMIM:238970 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, EEG abnormality, Hypertonia, M... |
ORPHA:71277 |
| Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Tetraplegia, Abnormal tendon morphology, Macroglossia, Axona... |
ORPHA:85446 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... |
ORPHA:101111 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Gait disturbance |
ORPHA:2928 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Abnormal pyramidal sign, Dysmetr... |
ORPHA:48431 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at... |
OMIM:604360 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Babinski sign, Optic a... |
OMIM:616680 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Abnormal lower-limb motor evoked potentials,... |
ORPHA:444099 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait a... |
OMIM:618387 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Gait disturbance, ... |
OMIM:618400 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Spastic tetraplegia, M... |
ORPHA:599373 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Heterochromia iridis, Ataxia, Cerebral dysmyelination, Dista... |
OMIM:609136 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... |
OMIM:271245 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Cataract, Postural tremor, Lower limb muscle weakness, Babinski sign, Opti... |
OMIM:270800 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, EEG abnormality, Neurodegeneration |
OMIM:610951 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Congestive heart failure, Reduced bone mineral density, Fatigable weakness, Hyper... |
ORPHA:428 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... |
OMIM:167320 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Gait disturbance,... |
OMIM:603472 |
| Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Spastic tetrapleg... |
OMIM:256600 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tib... |
ORPHA:320375 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ... |
OMIM:169500 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Dysmyelinating... |
OMIM:612319 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... |
OMIM:603516 |
| Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Heterochromia iridis, Paralysis |
OMIM:143000 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperpho... |
ORPHA:94089 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Peripheral axonal neuropathy, Babinski si... |
OMIM:619686 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins... |
ORPHA:506353 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Cataract, Ataxia, Corneal opacity, Tremor, Decreased nerve conduction ve... |
ORPHA:812 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dystonia |
OMIM:300857 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... |
OMIM:613672 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... |
ORPHA:99845 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Lower limb muscle weakness, Limb-girdle muscle weakness, Optic atrophy, Viral i... |
ORPHA:329314 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralys... |
OMIM:620011 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:171863 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... |
ORPHA:306692 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdia... |
OMIM:618356 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske... |
OMIM:613954 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ankle clonus, Fasciculations, Spasticity |
OMIM:620323 |
| Gemignani Syndrome |
|
Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy |
ORPHA:2074 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Lower limb muscle weakness, Babinski sign... |
OMIM:616907 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Diaphragmatic pa... |
OMIM:614399 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges |
OMIM:616187 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... |
OMIM:617892 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Spast... |
ORPHA:247604 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase... |
ORPHA:94093 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Lower limb spasticity, Proximal muscle weakness in upper limbs, Babinski sign... |
ORPHA:496689 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Ankle flexion co... |
OMIM:617519 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Abnormality of the seventh cranial nerve, Upper limb muscle weakness, Limb fasciculations... |
ORPHA:90117 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atrophy, Spastic paraparesis, Intenti... |
ORPHA:423275 |
| Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Developmental And Epileptic Encephalopathy 35 |
|
Delayed CNS myelination, Cataract, Limb tremor, Cerebral atrophy, Brain atrophy |
OMIM:616647 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal... |
OMIM:260600 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Cataract, Tremor, Corpus callosum atrophy, Babinski sign, Spastic parapl... |
OMIM:616586 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... |
ORPHA:216873 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Skeletal muscle atrophy, Cataract, Babinski sign, Pseudobulbar paralysis, ... |
ORPHA:101006 |
| Multifocal Motor Neuropathy |
|
Limb muscle weakness, Weakness of long finger extensor muscles, Fasciculations, Motor conduction ... |
ORPHA:641 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Cataract, Lower limb muscle weakness, Babinski sign, S... |
OMIM:614409 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper moto... |
OMIM:500001 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... |
OMIM:208920 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Fasciculations, Proximal amyotrophy |
OMIM:271200 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Triceps weakness, Quadriceps... |
ORPHA:99947 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... |
OMIM:616081 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Skeletal muscle atrophy, Chorea, Ba... |
OMIM:164400 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Impaired ... |
ORPHA:90658 |
| Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Achilles tendon contracture, Babinski... |
ORPHA:2596 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Babinski sig... |
ORPHA:513436 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Spasticity, Cataract, Optic atrophy, Lower limb muscle weakness |
OMIM:620312 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Corpus callosum atrophy, Decreas... |
ORPHA:565624 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Abnormal motor evoked potentials, Juvenile cataract... |
ORPHA:909 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m... |
ORPHA:238329 |
| Cataract 11, Multiple Types |
|
Chorea, Hypertonia, Developmental cataract, Cataract |
OMIM:610623 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
| Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Cachexia |
ORPHA:1933 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Axonal loss, Distal upper limb amyotrophy, Oni... |
OMIM:614455 |
| Tangier Disease |
|
Peripheral axonal neuropathy, Facial diplegia, Distal amyotrophy, Opacification of the corneal st... |
OMIM:205400 |
| Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... |
OMIM:615924 |
| Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Chorea, Babinski sign, Optic atro... |
ORPHA:95 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Hand muscle weakness, Degener... |
ORPHA:320355 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Lower limb spasticity, Skeletal muscle atrophy, Postural tremor, Babinski sign, Spastic paraplegia |
ORPHA:100988 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Cataract, Clonus, Spastic t... |
OMIM:617481 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... |
ORPHA:330050 |
| Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Distal sensory... |
OMIM:616652 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Distal lower limb amyotrophy, Lower limb spasticity, Ataxia, Posterior capsular cataract, Babinsk... |
OMIM:609195 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... |
OMIM:239000 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia |
OMIM:612462 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Delayed CNS myelination, Cataract, Spastic tetraparesis, Cerebral atrophy, Spasticity, Cerebellar... |
OMIM:616154 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea, Cataract |
OMIM:601372 |
| Prune1-Related Neurological Syndrome |
|
Cerebellar atrophy, Cataract, Clonus, Spastic tetraparesis, Delayed myelination, Optic atrophy, C... |
ORPHA:544469 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Involuntary movements, Reduced... |
ORPHA:79443 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... |
ORPHA:2926 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Peripheral axonal neuropathy, Decreased motor ne... |
OMIM:606002 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Parkinsonism, Paraparesis, Atrophy... |
ORPHA:2822 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Cataract, Ataxia, Corpus... |
ORPHA:320391 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Demyelinating motor neuropathy, Distal amyotrophy, Demyelinating sensory neuropathy |
ORPHA:639 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia |
OMIM:103580 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Cataract, Ataxia |
OMIM:278780 |
| Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
| Optic Atrophy 11 |
|
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... |
OMIM:617302 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... |
ORPHA:324588 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... |
ORPHA:309263 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Lis... |
OMIM:162210 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Lower limb spasticity, Foot dorsiflexor weakness, Ataxia, Babinski sign, Abno... |
ORPHA:98 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, CNS demyelination |
OMIM:610245 |
| Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Hypsarrhythmia |
OMIM:619561 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... |
OMIM:201300 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera... |
ORPHA:221091 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... |
OMIM:301830 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... |
ORPHA:309256 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa... |
OMIM:615889 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:100999 |
| Nathalie Syndrome |
|
Skeletal muscle atrophy, Cataract |
OMIM:255990 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... |
ORPHA:496756 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... |
ORPHA:401768 |
| Autosomal Recessive Spastic Paraplegia Type 5A |
|
Lower limb spasticity, Cataract, Atrophy of the spinal cord, Babinski sign, Spastic paraplegia, L... |
ORPHA:100986 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... |
ORPHA:254930 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
| X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic atrophy, Spastic tetrap... |
OMIM:615419 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Axial dystonia, Spastic paraplegia, Flexion contractur... |
OMIM:619026 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... |
OMIM:608030 |
| Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Premature ventricula... |
ORPHA:423 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Babinski sign, Optic atrophy, Spastic paraplegia... |
OMIM:609541 |
| Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... |
ORPHA:79444 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Cataract, Decreased distal sensory nerve action potentia... |
ORPHA:99956 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
| Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... |
OMIM:615491 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Lower limb muscle weakn... |
OMIM:600363 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Babinski sign, Hoffmann sign, Abnormal pyramidal sign, Dysmetria, Distal amyotrophy, Spas... |
OMIM:618438 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Spasticity, Fasciculations, Skeletal muscle atrophy |
OMIM:614808 |
| Cednik Syndrome |
|
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
| Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity |
OMIM:616494 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... |
OMIM:613647 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Iris hypopigmentation, Tremor, ... |
ORPHA:97229 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Increased neuronal autofluorescent lipopigment, Parkinsonism, Increased extraneuronal a... |
OMIM:204200 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Myoclo... |
ORPHA:391417 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Skeleta... |
ORPHA:276244 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... |
ORPHA:2821 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, C... |
OMIM:607596 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Spastic paraplegia, Hand trem... |
ORPHA:100996 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Lower limb muscle weakness, Ragged-red muscle fibers, Babinski sign, Lower limb amyotrophy, Upper... |
OMIM:616924 |
| Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... |
ORPHA:309271 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... |
ORPHA:36386 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy |
OMIM:611895 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia |
OMIM:261630 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
| Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Babinski sign... |
OMIM:608703 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... |
OMIM:243000 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap... |
OMIM:612438 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... |
ORPHA:370980 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Babinski s... |
OMIM:618186 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... |
OMIM:229300 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Corneal opacity, Cerebral atrophy, CNS demyelination, Spasticity, Per... |
OMIM:272200 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Spinocerebellar Ataxia Type 18 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Dysmetria, Titubation, Gait ataxia, Head t... |
ORPHA:98771 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Cardiac arrest |
OMIM:618951 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... |
OMIM:616437 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired propriocep... |
ORPHA:88628 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Peripheral demyelination |
OMIM:616733 |
| Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Babinski sign, Cerebral atrophy, G... |
OMIM:616192 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy, Cataract, Developmental cataract |
OMIM:613076 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Decreased motor nerve... |
ORPHA:99949 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Abnormal motor nerve conductio... |
ORPHA:2912 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Distal ... |
OMIM:612020 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... |
OMIM:607088 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Lens luxation, Ectopia lentis, Spastic tetraplegia, Cerebral atrophy, O... |
OMIM:252160 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... |
ORPHA:157215 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Loss of ambulation, Decreased compound muscle action potential amplitude, Facial palsy, Waddling ... |
OMIM:603511 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Babinski si... |
OMIM:615663 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Distal lower limb amyotrophy, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy |
OMIM:255600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Dystonia |
OMIM:618244 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,... |
OMIM:160565 |
| Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Spastic tetraplegia, ... |
OMIM:300523 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Hypopho... |
ORPHA:93160 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... |
ORPHA:1187 |
| Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Slurred speech, Opacification of the c... |
OMIM:230650 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, A... |
OMIM:617710 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ... |
OMIM:617070 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... |
OMIM:613640 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Multiple joint contractures, Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ... |
ORPHA:504476 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Joint stiffness, Tremor, Fasci... |
ORPHA:209335 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar... |
OMIM:616719 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Cataract, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyrami... |
OMIM:619527 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Skeletal m... |
OMIM:602124 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ataxia, Pr... |
ORPHA:284289 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Flexion contracture, Eyelid myoclonus, Clumsiness, Myoc... |
ORPHA:2590 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
| Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dysmetria, Adductor lo... |
OMIM:210000 |
| Cystinosis |
|
Portal hypertension, Rickets, Abnormal pyramidal sign, Hypokalemia, Gait disturbance, Hypophospha... |
ORPHA:213 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Delayed periphe... |
ORPHA:464282 |
| Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnorma... |
OMIM:610651 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Myopathy, Myofibrillar, 2 |
|
Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ... |
OMIM:608810 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsuline... |
ORPHA:276608 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb... |
ORPHA:298 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Decreased compound muscle action potential amplitude, Flexion contracture, Generalized ... |
OMIM:618323 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Unsteady gait, Limb tre... |
ORPHA:420492 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Facial-lingual fascicu... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Facial-lingual fascicu... |
ORPHA:276241 |
| 4H Leukodystrophy |
|
Cataract, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, ... |
ORPHA:289494 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... |
ORPHA:485421 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Failure to thrive in in... |
ORPHA:477817 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Lens luxation, Ectopia lentis, Spastic tetraplegia, Cerebral atrophy, Opist... |
OMIM:252150 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... |
ORPHA:168563 |
| Infantile Krabbe Disease |
|
Lower limb spasticity, Diffuse cerebral atrophy, Prolonged brainstem auditory evoked potentials, ... |
ORPHA:206436 |
| Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of ant... |
ORPHA:2254 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Cataract, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Cerebel... |
OMIM:224050 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodystrophy, Babinski sig... |
ORPHA:137898 |
| Harel-Yoon Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Corneal opacity, Optic atrophy, Develop... |
OMIM:617183 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Tongue fasciculations, Weakn... |
OMIM:618811 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... |
ORPHA:466650 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... |
OMIM:611067 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Lower limb muscle wea... |
ORPHA:88644 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Flexion contracture... |
OMIM:275900 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Optic atrophy, Elbow flexion contracture, Spastic tetraparesis |
OMIM:619470 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Gait ataxia, Muscle fiber necrosis, Generalize... |
OMIM:258450 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) |
OMIM:616366 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... |
OMIM:301075 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint contract... |
OMIM:614407 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predominance, Myoclonus |
OMIM:619028 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Titu... |
ORPHA:280219 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy |
ORPHA:2380 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
| Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, Lower limb spasticity, EEG with parietal focal spikes, EEG wit... |
ORPHA:98889 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Babinski sign, Spastic ... |
OMIM:300055 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon con... |
OMIM:606612 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Scapular winging, Facial palsy, Flexion contracture, Clumsiness, Proximal amyotrophy, M... |
OMIM:253600 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Tetraparesis, Muscular dystrophy,... |
OMIM:616827 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Spastic tetraparesis, Flexion... |
ORPHA:35069 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity |
ORPHA:33445 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... |
OMIM:619790 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Spasti... |
ORPHA:289560 |
| Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Limb muscle weakness, Spasticity, Abnormal autonomic nervous sys... |
ORPHA:363722 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Sensory axonal ne... |
OMIM:618733 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Lissencephaly 8 |
|
Appendicular spasticity, Skeletal muscle atrophy, Cataract, Optic atrophy, Cerebral hypomyelination |
OMIM:617255 |
| Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Delayed myelination, Babinski sign, Abnormal pyramidal sign, Spa... |
ORPHA:59 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordi... |
ORPHA:79263 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Clonus, Demyelinating motor neuropathy, Babi... |
OMIM:616479 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| X-Linked Immunoneurologic Disorder |
|
Hemiplegia/hemiparesis, Hypertonia, Myopathy, Cataract |
ORPHA:2571 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
| Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abno... |
ORPHA:309162 |
| Waardenburg Syndrome, Type 4A |
|
Ataxia, Aganglionic megacolon, Blue irides, Leukodystrophy, Spastic paraparesis, Heterochromia ir... |
OMIM:277580 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Spasticity, Babinski sign, Skeletal muscle atrophy |
OMIM:612069 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, EEG abnormality, Distal amyotrophy, Dyston... |
OMIM:618247 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Delayed CNS myelination, Cataract, Cerebral atrophy, Hypertonia, Arthrogrypos... |
OMIM:615095 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Dystonia |
OMIM:618239 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:613388 |
| Martsolf Syndrome 2 |
|
Cataract, Camptodactyly of finger, Spastic diplegia, Developmental cataract, Brain atrophy, Campt... |
OMIM:619420 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypertension, Glycosuria, Hypophosphatemia |
OMIM:618913 |
| Farber Disease |
|
Skeletal muscle atrophy, Corneal opacity, Paraparesis, Flexion contracture, Abnormal conjunctiva ... |
ORPHA:333 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Abnormal pyramidal sign, Cere... |
ORPHA:352641 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Cataract, Ataxia, Corpus callosum ... |
ORPHA:98673 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Axonal loss, G... |
OMIM:612954 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Abnormal pyramidal sign, Corneal opacity |
ORPHA:93476 |
| Developmental And Epileptic Encephalopathy 86 |
|
Dystonia, Generalized amyotrophy, CNS hypomyelination |
OMIM:618910 |
| Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Peripheral axonal neuropathy, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
| Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg... |
ORPHA:803 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:616026 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Skeletal muscle atrophy, Cataract, Parkinsonism, Facial palsy, Rigidity, Ragged-r... |
OMIM:157640 |
| Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
| Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Myoclonus, Peripheral dysmyelination, Neuronal... |
OMIM:260565 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Optic atrophy, Abnormal pyramidal sign, Progressive cerebellar ataxia, Pro... |
ORPHA:1177 |
| Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... |
ORPHA:3124 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Dysmetria, Gait ataxia, Generalized amyotrophy, Dystonia |
OMIM:203740 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le... |
OMIM:607694 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Cerebellar vermis atrophy, Spastic dysarthria, Distal amyotrophy, Distal lower limb muscl... |
ORPHA:94124 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyram... |
ORPHA:363400 |
| Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Flexion contracture, Astigmatism, Spastic paraparesis, C... |
OMIM:270200 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cataract, Fatty replacement of skeletal muscle, Cranial nerve comp... |
ORPHA:52430 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Optic atrophy, Flexion contracture, ... |
OMIM:616505 |
| Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ... |
OMIM:248800 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Ataxia |
OMIM:618637 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
| Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple... |
OMIM:612164 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia |
OMIM:614863 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Dysmetria, Gait ataxia, Choreoathetosi... |
OMIM:604391 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Spasticity, ... |
OMIM:215470 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Short... |
ORPHA:79102 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression, Small for gestational age |
OMIM:615368 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... |
ORPHA:2088 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Weakness due to upper motor n... |
ORPHA:79139 |
| Exfoliation Syndrome |
|
Cataract, Rigidity, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition i... |
OMIM:177650 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Ce... |
OMIM:611890 |
| Peroxisome Biogenesis Disorder 5B |
|
Joint laxity, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dy... |
OMIM:614867 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy |
OMIM:614116 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia |
ORPHA:89937 |
| Siddiqi Syndrome |
|
Flexion contracture, Lower limb amyotrophy, Limb dystonia |
OMIM:618635 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:264700 |
| Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... |
ORPHA:48818 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Brain... |
OMIM:618228 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Elevated circulating creatinine concentration, Hyperk... |
ORPHA:340 |
| Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormality of extrapyramidal motor fun... |
OMIM:616299 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Epiphyseal stippling, Neonatal epiphyseal stippling, Hyperphosphatemia |
OMIM:101800 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Heterochromia iridis |
ORPHA:66633 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... |
OMIM:606071 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:100993 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Small thenar emin... |
OMIM:620080 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Myopathy, Distal, 3 |
|
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
| Kearns-Sayre Syndrome |
|
Hemiplegia/hemiparesis, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy |
ORPHA:480 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Progressive spastic paraplegia, Lower limb amyotrophy, Spastic gait, Limb ... |
ORPHA:401815 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... |
OMIM:612016 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, ... |
OMIM:618877 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Leukodystrophy, Dystonia |
OMIM:615010 |
| Spastic Paraplegia 16, X-Linked |
|
Lower limb spasticity, Facial hypotonia, Babinski sign, Spastic paraplegia, Lower limb amyotrophy... |
OMIM:300266 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia,... |
ORPHA:529665 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rig... |
OMIM:146500 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... |
OMIM:619725 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Cataract, Corpus callosum atrophy, Babinski sign, Hoffmann... |
OMIM:601162 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... |
ORPHA:206559 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... |
ORPHA:93325 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Limitation of joint mobility, Hypertension, Hypertonia, Gait disturbance, Type I diabetes... |
ORPHA:1192 |
| Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ... |
OMIM:614153 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
| Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Tremor, Sudanophilic leuko... |
OMIM:312080 |
| Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia, Dystonia |
OMIM:105300 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tac... |
OMIM:212138 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Hyps... |
ORPHA:442835 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
| Tetanus |
|
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Op... |
ORPHA:3299 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Mydriasis, Weakness of facial mu... |
ORPHA:79138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalanin... |
OMIM:619048 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Myoclonus, Dysmetria |
OMIM:618251 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Morning myoclonic jerks, Bradycardia |
ORPHA:2898 |
| Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... |
ORPHA:3095 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Corneal opacity, Tremor, Flexion contracture |
ORPHA:87876 |
| Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hyperammonemia, Spasticity, Bradycardia, Dystonia, Hyperalaninemia, Hypertrophic ca... |
OMIM:614702 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Hype... |
OMIM:261640 |
| Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cerebral palsy, Corneal opacity, Spastic paraparesis |
ORPHA:93474 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
| Cach Syndrome |
|
Cerebellar atrophy, Cataract, Dysmyelinating leukodystrophy, Atrophy/Degeneration affecting the b... |
ORPHA:135 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax... |
OMIM:614381 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... |
OMIM:612953 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hypomimic face, Dystonia, Limb... |
ORPHA:70594 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations |
OMIM:313200 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic gait |
OMIM:616795 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplas... |
ORPHA:496790 |
| Machado-Joseph Disease |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... |
OMIM:109150 |
| Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal amyotrophy, Oculomoto... |
OMIM:615217 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:277440 |
| Arachnoid Cyst |
|
Facial palsy, Paraparesis, Cranial nerve compression, Slurred speech, Hemiparesis, Tetraparesis, ... |
ORPHA:2356 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, CNS hypomye... |
OMIM:616239 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, L... |
ORPHA:3208 |
| Chediak-Higashi Syndrome |
|
Ataxia, Tremor, Decreased nerve conduction velocity, Ocular albinism, Neurodegeneration, Foot dor... |
OMIM:214500 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Tre... |
OMIM:128100 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Abnormal CNS myelination, Babinski sign, Spastic paraplegia |
ORPHA:477673 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cataract, Ataxia, Babinski sign, Optic atrophy, Gait... |
OMIM:620089 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap... |
OMIM:270700 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Spastic paraparesis, Distal l... |
OMIM:500013 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia |
OMIM:620358 |
| Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Poor gross motor coordination, Multifocal epilep... |
ORPHA:228360 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ... |
OMIM:608931 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia... |
OMIM:227810 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
| Schindler Disease, Type I |
|
Spasticity, Optic atrophy, Myoclonus, Generalized amyotrophy |
OMIM:609241 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Corpus callosum atrophy, Ba... |
OMIM:617339 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Fried Syndrome |
|
Skeletal muscle atrophy, Spastic diplegia |
ORPHA:85335 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Cataract, Ataxia, Rigidity, Optic atrophy, Myopathy, Hypertonia, Muscula... |
ORPHA:559 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Hypercalcemia, Antalgic... |
ORPHA:249 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb ... |
OMIM:233910 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Arrhythmia, Ataxia, Gait disturbance |
ORPHA:29822 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Waddling gait, Hypercalcemia, Knee flexion contracture, Hypophosphat... |
OMIM:156400 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Lower limb spasticity, Broad-based gait, Parkinsonism, Tremor, Congestive heart f... |
ORPHA:3077 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Progressive gait ataxia, Hypertonia, Lentiglobus, Congenital contracture... |
ORPHA:191 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Tongue fascic... |
OMIM:614678 |
| Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Mydriasis, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Cataract, Ataxia, Tendon xanthomatosis, Babinski sign, Abn... |
OMIM:213700 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Babinski sign, Optic... |
ORPHA:52368 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Myoclonus, Bradycardia |
OMIM:619814 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Tremor, Hypertonia, Astigmatism |
OMIM:619556 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Failure to thrive, Ataxia, Facial palsy, Dysmetria, EE... |
ORPHA:456312 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Cardiac arrest, Spasticity, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... |
ORPHA:352540 |
| Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Gait ataxia, Opisthotonus, CNS hyp... |
OMIM:103050 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... |
OMIM:300009 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Leukodystrophy, Juvenile cataract, Iris coloboma, Intention tremor, Ataxia, H... |
OMIM:619475 |
| Madras Motor Neuron Disease |
|
Facial palsy, Babinski sign, Optic atrophy, Distal amyotrophy, Limb fasciculations |
ORPHA:137867 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Spasticity, Dystonia |
OMIM:616277 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cataract, Ataxia, EEG abnormality, Cerebral cortical atrophy |
ORPHA:2047 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Paraparesis, Babinski sign, Paraplegia, Upper limb muscle weakness, Abno... |
ORPHA:139417 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo... |
OMIM:619574 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glycosuria,... |
ORPHA:263455 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu... |
OMIM:616867 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Hypophosphatem... |
OMIM:307800 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, C... |
OMIM:610217 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Joint contracture, Li... |
OMIM:614498 |
| Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, T-wave inversion, Bradycardia, Shuffling ... |
ORPHA:228346 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet... |
ORPHA:101 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
| Wilson Disease |
|
Dystonia, Poor motor coordination, Tremor, Rigidity, Decreased nerve conduction velocity, Limb mu... |
OMIM:277900 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic... |
ORPHA:255210 |
| Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Leber Congenital Amaurosis |
|
Keratoconus, Hemiplegia/hemiparesis, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Interosseus muscle atrophy, Cervical spinal cord atrophy, Fasciculations |
OMIM:602440 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract, Spastic paraparesis |
OMIM:619338 |
| Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... |
OMIM:601005 |
| Myopathy With Extrapyramidal Signs |
|
Joint laxity, Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase co... |
OMIM:615673 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
| Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Cataract, Ataxia, Abnormal peripheral myelination, Abnormal ... |
OMIM:216400 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Cataract, Chorea, Cerebral atrophy, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystro... |
ORPHA:369847 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Decreased n... |
OMIM:133540 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Babinski sign, Cerebral atrophy, CNS hypomyelination, Hyperkinetic movem... |
OMIM:616420 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Abnormal cranial nerv... |
ORPHA:247234 |
| Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Hypsarrhythmia, Limb hypertonia |
OMIM:617162 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Delayed CNS myelination, Temporal cortical atrophy, Interictal epileptif... |
OMIM:618862 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... |
OMIM:162100 |
| East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Peripheral hypomyelination, Lower limb ... |
ORPHA:199343 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,... |
ORPHA:478029 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Paraplegia, Leukodystrophy |
ORPHA:79124 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Delayed myelination, Flexion contracture,... |
OMIM:214150 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Decerebrate rigidity, Progre... |
ORPHA:512 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... |
ORPHA:391428 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Gait ataxia, Spastic dysarthria, Progressive cerebell... |
ORPHA:95433 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... |
OMIM:105210 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... |
OMIM:620161 |
| Muscle-Eye-Brain Disease |
|
Cataract, Hemiplegia/hemiparesis, Optic atrophy, Myopathy, EEG abnormality, Hypertonia |
ORPHA:588 |
| Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
| O'Sullivan-Mcleod Syndrome |
|
Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Fascicul... |
ORPHA:99965 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertonia, Opisthotonus |
OMIM:616896 |
| Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
| Developmental And Epileptic Encephalopathy 82 |
|
Spastic tetraplegia, Cerebral atrophy, Spastic paraparesis |
OMIM:618721 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypertonia, Bradycardia, Dystonia |
OMIM:614654 |
| Congenital Disorder Of Deglycosylation 1 |
|
Delayed CNS myelination, Decreased sensory nerve conduction velocity, Corneal opacity, Involuntar... |
OMIM:615273 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Telangiectasia of the skin, Ataxia, Tremor, Gait disturbance, Type II diabetes... |
ORPHA:100 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Spastic paraplegia, Babinski sign, Reduced bone mineral density, Tip-toe gait, Gait distu... |
ORPHA:83629 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, EEG with spike-wave c... |
ORPHA:36387 |
| Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate... |
OMIM:200150 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Tachycardia, Hypokalemia, Periodic paralysis |
OMIM:613239 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin... |
OMIM:211530 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Parkinsonism, Cardiomyopathy, Gait disturbance, Bradycardia, Arrhythmia |
OMIM:609286 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy, Dysmetria |
OMIM:615578 |
| Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... |
ORPHA:845 |
| Oculodentodigital Dysplasia |
|
Cataract, Ataxia, Paraparesis, Microcornea, Tetraparesis, Joint contracture of the 5th finger, Sp... |
OMIM:164200 |
| Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Optic disc pallor, Cataract, Ataxia, Corneal opacity, Clumsiness, Macroglossi... |
ORPHA:309288 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... |
ORPHA:683 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Involuntary movements, Flexion contracture, Babinski sign, Spasticity, Sinus bradycardia, Ankle c... |
OMIM:618397 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Cataract, Ataxia, Babinski sign, Optic atrophy, Cerebral atro... |
ORPHA:314404 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Corpus callosum atrophy, Babinski sign, Tetraplegia, Ce... |
ORPHA:447760 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Microcornea, Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Titubation, Abnorma... |
ORPHA:280210 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase |
OMIM:620265 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Optic atrophy, Failure to thrive, Peripheral de... |
ORPHA:79282 |
| Cog8-Cdg |
|
Cerebellar atrophy, Chronic axonal neuropathy, Skeletal muscle atrophy, Ataxia, Myoclonus, Atroph... |
ORPHA:95428 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Cerebral atrophy, Tetrapleg... |
OMIM:619272 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Dystonia, Gait apraxia, Gait ataxia, EEG abnormality, Truncal ataxia, Sp... |
OMIM:312750 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Microcornea, Skeletal muscle atrophy |
ORPHA:85283 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Fasci... |
OMIM:620327 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
| Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Distal amyotrophy, Leukodystrophy, Motor ax... |
OMIM:614871 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal... |
ORPHA:765 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
| Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Orthostatic hypotension, Ataxia, CNS hypom... |
OMIM:268800 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy, EEG abnormality |
ORPHA:3239 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cataract, Ataxia, Generalized dystonia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxi... |
OMIM:618321 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonu... |
OMIM:614969 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi... |
OMIM:607459 |
| Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized... |
OMIM:605013 |
| Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis |
ORPHA:449285 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Cerebral atrophy, Facial diplegia, Athetosis, Hyperkinetic movements, Dy... |
OMIM:612073 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... |
ORPHA:542306 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Cataract, Ataxia, Dystonia, Tremor, Chorea, CNS hypomyelination, Athetosis, EEG a... |
OMIM:615356 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:97279 |
| Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Atrophy of the spinal cord, Decreased nerve con... |
ORPHA:167 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... |
ORPHA:94080 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Weakness of facial musculature, Limb muscle wea... |
ORPHA:329336 |
| Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy... |
ORPHA:2388 |
| Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Optic atrophy, Choreoathetosis, Joint contracture, Dystonia, Spasticity |
OMIM:617664 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Hypertonia, Arrhythmia |
ORPHA:99745 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:618393 |
| Dystonia-Deafness Syndrome 1 |
|
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis |
OMIM:607371 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Ataxia, Delayed myelination, Optic atroph... |
ORPHA:543470 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Cataract, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Myocardial infarction, Tremor, Cranial hyperostosis, Hyperkinetic movements, Upper limb spasticit... |
ORPHA:457240 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Cystathioninuria |
|
Cystathioninemia, Tremor |
ORPHA:212 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr... |
ORPHA:466722 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Opt... |
OMIM:234200 |
| Classic Phenylketonuria |
|
Cataract, Tremor, Paraplegia, Hypertonia, Hemiplegia |
ORPHA:79254 |
| L1 Syndrome |
|
Hemiplegia/hemiparesis, Spasticity, Aganglionic megacolon, Skeletal muscle atrophy |
ORPHA:275543 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Truncal ataxia, M... |
ORPHA:369840 |
| Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... |
ORPHA:64752 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity, Developmental cat... |
ORPHA:85323 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... |
ORPHA:139399 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Skeletal muscle atrophy, Ata... |
OMIM:617193 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Hypsarrhythmia, Increased cup-to-disc ratio, Myoclonus, Dyst... |
ORPHA:500144 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Increased susceptibility to fractures, ... |
ORPHA:3337 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Ataxia, Multifocal epileptiform discharges, Macroglossia, Arthrogryposis-like han... |
ORPHA:369891 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, ... |
ORPHA:496641 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom... |
OMIM:256800 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98853 |
| Foodborne Botulism |
|
Cerebral palsy, Mydriasis, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Spastic tetraplegia, Nonketotic hyperglycinemia, Opisthotonus, Myoclonus, Bradycard... |
OMIM:220120 |
| Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Optic atrophy |
ORPHA:477814 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Facial diplegia, Facial paralysis |
OMIM:613559 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... |
OMIM:168600 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Ataxia, Poor coordination, Limb ataxia, Spasticity |
OMIM:617695 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... |
OMIM:618527 |
| Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Cataract, Slurred speech, Dysmetria, Myoclonus |
OMIM:256550 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia |
OMIM:600740 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Hypotension |
ORPHA:178509 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Cataract, Ataxia, Cerebral ... |
OMIM:615471 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat... |
OMIM:613327 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Abnorma... |
ORPHA:297 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Bradycardia |
ORPHA:95717 |
| Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Absent brainstem auditory responses, Cataract, Ataxia, Foot joint contract... |
ORPHA:90321 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Tremor, Flexion contracture, Hypsarrhythmia, Hypertonia |
OMIM:608093 |
| Igg4-Related Pachymeningitis |
|
Abnormality of cervical plexus, Paraparesis, Abnormality of the brachial nerve plexus, Lower limb... |
ORPHA:449427 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture, Cataract |
OMIM:615704 |
| Hurler Syndrome |
|
Cerebral palsy, Corneal opacity, Camptodactyly of finger, Abnormal pyramidal sign, Macroglossia, ... |
ORPHA:93473 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... |
ORPHA:439232 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Decreased muscle mass, Cerebral dysmyelination, Decreased nerve conduction ve... |
OMIM:261515 |
| Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Delayed CNS myelination, Rigidity, Athetosis, Spasticity |
OMIM:257200 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, Blue irides, Dysmetria, Hand tremor, Flexion contracture of digit, Spastic... |
ORPHA:3041 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Acute rhabdomyolysis, Poor coordination, Optic atrophy, Spastic tetraplegia, Spas... |
OMIM:616878 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Flexion contracture, Hyperkinetic movements,... |
OMIM:300243 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Skeletal muscle atrophy, Babinski sign, Slurred speech, Spastic dysarthria, Ankle... |
ORPHA:101000 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Hyp... |
ORPHA:254892 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Babinski sign, CNS hypomyelination, Spastic paraparesis, Hand apraxia |
ORPHA:280229 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cer... |
ORPHA:2396 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp... |
ORPHA:466677 |
| Dent Disease |
|
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... |
ORPHA:1652 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Cataract, Skeletal muscle atrophy, Flexion contr... |
ORPHA:90324 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly |
OMIM:610015 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral density, Osteopetrosis, Hypoc... |
ORPHA:667 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Cataract, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Choreoathetosis... |
OMIM:617988 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Optic atrophy, Hemiparesis, Brain atro... |
ORPHA:395 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, Hyperkinetic moveme... |
OMIM:616271 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Cataract, Achilles tendon contracture, Ragged-red muscle fibers, Left ve... |
OMIM:615418 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosi... |
OMIM:620351 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Leigh Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cataract, Ataxia, Involuntary movements, Multiple jo... |
ORPHA:506 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Ataxia, Severe demyelination of the white matter, Flexion contracture, C... |
ORPHA:481152 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Tremor, Dysmetria, Truncal ataxia, Left ventricular hypertrophy, CNS demyelinat... |
OMIM:220111 |
| Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Wea... |
ORPHA:35125 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neurop... |
OMIM:612780 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Oculomotor apraxia, Skeletal muscle atrophy |
OMIM:619759 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... |
ORPHA:447788 |
| Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... |
OMIM:605373 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Recurrent fractures, Hypophosphatemia |
OMIM:239200 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature |
ORPHA:254875 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Babinski sign, Hypertonia, Neurodegeneration, Arm dystonia |
ORPHA:79244 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:157973 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorrhage, Retinal... |
ORPHA:25 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Glycosuria |
ORPHA:411629 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis |
OMIM:188580 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Multiple Sulfatase Deficiency |
|
Cataract, Optic atrophy, Abnormality of peripheral nerve conduction, Corneal opacity |
ORPHA:585 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, EEG abnormality, Myocl... |
ORPHA:98794 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Glycosuri... |
ORPHA:411634 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia |
ORPHA:469 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Sensory axonal neuropathy |
OMIM:300614 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
| Mercury Poisoning |
|
Tachycardia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia |
ORPHA:330021 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Anterior subcapsular cataract, Extrapyramidal muscular rigidi... |
ORPHA:67036 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Cataract, Ataxia, Rhabdomyolysis |
ORPHA:79095 |
| Inhalational Botulism |
|
Mydriasis, Paralysis |
ORPHA:254504 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Delayed CNS myelination |
OMIM:618603 |
| Refsum Disease |
|
Skeletal muscle atrophy, Cataract, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign |
ORPHA:773 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Increased m... |
ORPHA:502423 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Bradykinesia, EEG abnormality, Abnormal autonomic nervous ... |
ORPHA:778 |
| Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
| Wolfram Syndrome 1 |
|
Tremor, Cataract, Optic atrophy, Ataxia |
OMIM:222300 |
| Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Abnormality of the autonomic ner... |
ORPHA:43116 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Glioblastoma |
|
Paralysis |
ORPHA:360 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2013 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Tetraplegia, Bradycardia, Hy... |
OMIM:610768 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction |
OMIM:612079 |
| Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:98896 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Ataxia, Corneal ... |
OMIM:256810 |
| Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia |
OMIM:618578 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Abnormal circulati... |
ORPHA:95716 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Delayed CNS myelination, Neurodegeneration |
OMIM:620210 |
| Renpenning Syndrome |
|
Skeletal muscle atrophy, Cataract, Iris coloboma |
ORPHA:3242 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordinat... |
ORPHA:309854 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein co... |
OMIM:208900 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Cataract, Flexion contracture, Optic atrop... |
OMIM:253800 |
| Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
| Aicardi-Goutières Syndrome |
|
Myositis, Extrapyramidal muscular rigidity, Multiple joint contractures, Dystonia, Tremor, Hemipl... |
ORPHA:51 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Myopathy, Rhabdomyolysis, Ataxia |
ORPHA:713 |
| Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
| Pearson Syndrome |
|
Diabetes mellitus, Ataxia, Cardiac conduction abnormality, Hypophosphatemia, Cardiomyopathy, Hypo... |
ORPHA:699 |
| Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
| Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures |
ORPHA:2028 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase concentration... |
OMIM:619424 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Cataract, Shoulder flexion contracture, Quadriceps musc... |
OMIM:255800 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Delayed CNS myelination, Babinski sign, Cerebral atrophy, Hypertonia, Sp... |
OMIM:615802 |
| Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, K... |
ORPHA:70 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Contractures of the large joints, Developmental cataract |
OMIM:616716 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Delayed CNS myelination, Skeletal muscle atrophy, Ataxia, Babinski sign, Flexi... |
OMIM:300232 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Clonus, Sudden cardiac death, Tremor, Chorea, Abnormal pyr... |
ORPHA:58 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Optic disc coloboma, Lens subluxation, Cataract |
OMIM:216820 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Tremor, Abno... |
ORPHA:3008 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Developmental cataract, Spastic dysarthria, Lower... |
ORPHA:447753 |
| Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Hypertonia, Ataxia |
ORPHA:31 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Osteoporosis, Abnormal pyramidal sign, Increa... |
OMIM:612199 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Ataxia, Limb joint contracture, Bab... |
OMIM:301072 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Ataxia, Congenital diaphragmatic hernia, Neurode... |
OMIM:615919 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Bradycardia, Absent ossification of capital femoral epiphysis |
ORPHA:226313 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Incoordination, Decreased number of large peripheral myelinated nerve fi... |
OMIM:223900 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy |
OMIM:615980 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
| Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Cataract, Corneal opacity, Optic atrophy, Microcornea, Muscular dystroph... |
ORPHA:899 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Tremor, Cerebral atrophy, Myopathy, Dystonia, Spasticity |
OMIM:615512 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Spastic paraparesis, Delayed myelination, Severe demyelination of the white matter |
ORPHA:391408 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Corneal opacity, Decreased nerve conduction velocity, Optic atrophy, Macroglossia, C... |
ORPHA:580 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... |
OMIM:259775 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Mydriasis, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyra... |
ORPHA:2131 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Spastic... |
OMIM:278730 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity |
ORPHA:760 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy |
ORPHA:42 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Glycosur... |
OMIM:219800 |
| Parathyroid Carcinoma |
|
Shortened QT interval, Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
| X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy, EEG abnormality |
ORPHA:85329 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia, Tongue fasciculations |
OMIM:608800 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy |
ORPHA:156 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
| Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Decreased size of ... |
ORPHA:98915 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia, Corneal opacity |
ORPHA:28378 |
| Trisomy 17P |
|
Skeletal muscle atrophy, Cataract, Flexion contracture, Macroglossia, Hypertonia |
ORPHA:261290 |
| Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Cranial nerve compression, Babinski sign, Voca... |
ORPHA:268882 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Optic atrophy, Spastic tetraplegia, Neurodegeneration, Spasticity |
OMIM:618476 |
| Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Posterior subcapsular cataract, Cataract, Elbow flexion contracture |
OMIM:616200 |
| Eales Disease |
|
Optic disc pallor, Iris neovascularization, Spastic paraparesis |
ORPHA:40923 |
| Encephalitis Lethargica |
|
Tremor, Parkinsonism, Stiff neck, Bradycardia |
ORPHA:83600 |
| Norrie Disease |
|
Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallo... |
OMIM:310600 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypertension, Hypophosphatemia |
OMIM:104200 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal... |
OMIM:614947 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent fractures, Osteomalacia, Joint stiffness, Hypoammonemia, Clonus, Joint hy... |
ORPHA:534 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Posterior subcapsular cataract, Astigmatism, Bilateral camptodactyly, Spastic paraparesis |
OMIM:619234 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Cataract, Optic atrophy, Hypertonia, Progressive spasticity, Cerebral co... |
ORPHA:192 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Anis... |
ORPHA:263479 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... |
OMIM:203700 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:245400 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Arthrogryposis multipl... |
OMIM:618291 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Distal amyotrophy, Increased variability in mu... |
OMIM:164310 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Presenile cataracts, Limb muscle ... |
OMIM:112250 |
| Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... |
ORPHA:646 |
| Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture |
OMIM:606631 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy, Cataract |
ORPHA:127 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
| Kennedy Disease |
|
Skeletal muscle atrophy |
ORPHA:481 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2840 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Multifocal epileptiform discharges, Cerebral atrophy |
OMIM:614300 |
| Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature |
OMIM:253310 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, EEG with burst suppression, Delayed myelination, Hypsarrhythmia, Choreoathetosis, EEG abn... |
ORPHA:1934 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
| Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Vocal cord paralysis, Schw... |
ORPHA:221098 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
| 12Q14 Microdeletion Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:94063 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
| Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Optic atrophy, Conjunctivitis, Spastic paraparesis, Limb muscle weakness |
ORPHA:79241 |
| Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Progressive spastic paraparesis, Frequent falls, Lower limb muscle ... |
ORPHA:79093 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Limited hip extension, Flexion contracture, Retinal he... |
OMIM:614653 |
| Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
| Oculodentodigital Dysplasia |
|
Cataract, Ataxia, Camptodactyly of finger, Optic atrophy, Abnormality iris morphology, Microcorne... |
ORPHA:2710 |
| Argininemia |
|
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... |
OMIM:207800 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
| Melorheostosis |
|
Skeletal muscle atrophy |
ORPHA:2485 |
| Lujo Hemorrhagic Fever |
|
Shock, Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Myocard... |
ORPHA:319213 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Hypertonia, Bradycardia, Dystonia, Neonatal hypoglycemia |
OMIM:617248 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral ... |
ORPHA:17 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic neuropathy, Babinsk... |
OMIM:252010 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Cataract, Facial palsy, Hypoplasia of the musculature, Flexion contractu... |
OMIM:254940 |
| Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Cataract, Flexion contracture, Opisthotonus, Muscular dystrophy, Arthrog... |
ORPHA:2671 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Cerebral palsy, Opisthotonus |
OMIM:210210 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic sensory dysfunc... |
ORPHA:642 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia, Elevated circulating crea... |
OMIM:618775 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Clumsiness, Bradycardia, Hypercholesterolemia, ... |
ORPHA:90674 |
| Hurler Syndrome |
|
Corneal opacity, Flexion contracture, Macroglossia, Abnormal CNS myelination, Neurodegeneration, ... |
OMIM:607014 |
| Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis |
ORPHA:37553 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat... |
ORPHA:90673 |
| Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Abnormality of peripheral nerve conduction |
OMIM:601992 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Flexion contracture |
ORPHA:75496 |
| Bohring-Opitz Syndrome |
|
Failure to thrive, Delayed peripheral myelination |
OMIM:605039 |
| Split Cord Malformation |
|
Paraparesis, Distal lower limb muscle weakness |
ORPHA:573278 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypoglycemia, Elevated circulating creatine kinase concentratio... |
ORPHA:99826 |
| Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Palpitations, Bradycardia |
ORPHA:91355 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Knee flexion contracture |
ORPHA:435638 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:230839 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy |
ORPHA:1486 |
| Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Central heterochromia, Abnormal pupil morphology, Blepharospasm, Microco... |
ORPHA:233 |
| 7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis |
ORPHA:251061 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Ataxia, Paralysis |
OMIM:263800 |
| Say-Barber-Miller Syndrome |
|
Babinski sign, Optic atrophy, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, ... |
ORPHA:3132 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:607598 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:232500 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Corneal opacity, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor ... |
ORPHA:2072 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:285 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Papilledema, Flexion contracture, Neurodegeneration |
OMIM:309900 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy |
ORPHA:367 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy |
ORPHA:1358 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed myelination, Cerebral atrophy |
OMIM:608779 |
| African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Keratitis... |
ORPHA:3385 |
| Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Corneal opacity, Diastasis recti, EEG with generalized epileptiform disc... |
ORPHA:488632 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Cataract, Shoulder flexion contracture, Ectopia lentis,... |
ORPHA:800 |
| Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension |
ORPHA:90051 |
| Bohring-Opitz Syndrome |
|
Inability to walk, Limitation of joint mobility, Bilateral wrist flexion contracture, Fixed elbow... |
ORPHA:97297 |
| Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Diastasis recti, Flexion contracture, Macroglossia, Neurodegeneration |
OMIM:253220 |
| Moebius Syndrome |
|
Skeletal muscle atrophy, Corneal opacity, Facial palsy, Aplasia of the pectoralis major muscle, A... |
ORPHA:570 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Multiple pterygia, Aplasia/Hypoplasia of the ab... |
ORPHA:2990 |
| Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Nuclear cataract, Camptodactyly, Arthrogryposis multiplex congenita, Joi... |
OMIM:601701 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
| Becker Muscular Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:98895 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Cataract |
ORPHA:902 |
| Pierson Syndrome |
|
Skeletal muscle atrophy, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropio... |
OMIM:609049 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Increased intramyocellular lipid droplets |
ORPHA:26791 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Delayed peripheral myelination |
ORPHA:364577 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... |
ORPHA:2215 |
| Leprosy |
|
Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous sys... |
ORPHA:548 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture |
OMIM:619183 |
| Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormality of the tongue muscle, Posterio... |
ORPHA:273 |
| Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy |
OMIM:614856 |
| Donohue Syndrome |
|
Skeletal muscle atrophy |
OMIM:246200 |
| Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati... |
ORPHA:284339 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Keratoconjunctivitis sicca |
OMIM:620370 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis |
OMIM:615934 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Hypog... |
ORPHA:226307 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness |
ORPHA:79240 |
| Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy |
ORPHA:110 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy |
OMIM:219080 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Poor coordination, Optic atrophy, Spastic diplegia, Cerebral atrophy, Fl... |
OMIM:309590 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Cranial nerve compression, Optic nerve compression |
OMIM:131300 |
| Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Dupuytren contracture |
ORPHA:39812 |
| Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
| Yellow Fever |
|
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... |
ORPHA:99829 |
| Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Corneal erosion, Flexion contracture |
ORPHA:89842 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Paralysis |
ORPHA:358 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy |
ORPHA:90045 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Microcornea, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen |
ORPHA:264580 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy |
OMIM:219090 |
| Marfan Syndrome |
|
Skeletal muscle atrophy, Flat cornea, Ectopia lentis, Lens luxation, Hypoplasia of the iris, Lens... |
ORPHA:558 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Osteoporosis, Bradycardia, Abnormal blood ion concentration |
ORPHA:79404 |
| Stickler Syndrome |
|
Skeletal muscle atrophy, Cataract, Ectopia lentis, Hemiplegia/hemiparesis, Macroglossia, Astigmatism |
ORPHA:828 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Optic atrophy, Optic nerve compression |
ORPHA:1328 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
| Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int... |
OMIM:255995 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:109 |
| Microphthalmia, Syndromic 2 |
|
Flexion contracture, Developmental cataract, Microcornea, Spastic paraparesis, Contracture of the... |
OMIM:300166 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy |
OMIM:615895 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis |
ORPHA:91347 |
| Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co... |
ORPHA:2461 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:618252 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Neurodegeneration, Rhabdomyosarcoma |
OMIM:251260 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Joint hypermobility |
OMIM:614437 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Microcornea, Skeletal muscle atrophy, Myopathy |
ORPHA:536545 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... |
OMIM:256040 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ... |
OMIM:259050 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy |
ORPHA:1969 |
| Atypical Werner Syndrome |
|
Calf muscle hypertrophy, Abnormality of the Achilles tendon, Skeletal muscle atrophy, Development... |
ORPHA:79474 |
| Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Rhabdomyosarcoma |
ORPHA:647 |
| Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3260 |
| Immunodeficiency 31C |
|
Skeletal muscle atrophy |
OMIM:614162 |
| Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy |
OMIM:222700 |
| Leprechaunism |
|
Skeletal muscle atrophy |
ORPHA:508 |
