| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Peroneal muscle atrophy, Spinal muscular atrophy, Scapular muscle atrophy |
OMIM:271220 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower limb amyotrophy, ... |
ORPHA:219 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Upper limb amyotrophy, Triceps weakness, Weakness of fac... |
ORPHA:482601 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Babinski sign, Ankle flexion contracture, Spastic gait, Knee flexion contracture, Impaired vibrat... |
ORPHA:320370 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Babinski sign, Ankle flexion contracture, Gait disturbance, Knee flexion contracture, Distal sens... |
OMIM:615043 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Spinal muscular atrophy, Skeletal muscle atrophy |
OMIM:182970 |
| Distal Myopathy, Welander Type |
|
Clumsiness, Myopathy, Steppage gait, Distal upper limb amyotrophy, EMG: myopathic abnormalities, ... |
ORPHA:603 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... |
OMIM:270685 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... |
OMIM:612335 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Hammertoe, Fasciculations, Tremor, Distal sensory impairment, Calf muscl... |
OMIM:615048 |
| Miyoshi Myopathy |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Pelvic girdle muscle weakness, Tric... |
ORPHA:45448 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Knee flexion contracture, T... |
ORPHA:401785 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Babinski sign, Gait disturbance, Skeletal muscle atrophy, Spastic paraplegia, Abnormal pyramidal ... |
ORPHA:357043 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Babinski sign, Clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Tip-toe gait... |
OMIM:615681 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... |
ORPHA:276435 |
| Neuronopathy, Distal Hereditary Motor, Type I |
|
Babinski sign, Impaired vibration sensation at ankles, Hammertoe, Hypertonia, Distal amyotrophy, ... |
OMIM:182960 |
| Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Skeletal muscle atrophy, Tremor, Ataxia, Spasticity, Flexion contracture |
OMIM:611105 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Proximal muscle weakness in lower limbs, Paresthesia, Talipes equinovarus, Frequent falls, EMG: m... |
OMIM:619216 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Spastic paraplegia, Babinski sign, Skeletal muscle atrophy, Difficulty walking |
OMIM:616282 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Hip d... |
OMIM:302802 |
| Arthrogryposis, Distal, Type 10 |
|
Distal arthrogryposis, Hamstring contractures, Arthrogryposis multiplex congenita, Wrist flexion ... |
OMIM:187370 |
| Bethlem Myopathy 1 |
|
Ankle flexion contracture, Myopathy, Skeletal muscle atrophy, Torticollis, Camptodactyly of finge... |
OMIM:158810 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic paraplegia, Babinski sign, Spastic gait, Skeletal muscle atrophy |
OMIM:612539 |
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:600794 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Distal sensory impairment, Distal amyotrophy, Limb ataxia, Gait ataxia,... |
OMIM:617018 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Optic atrophy, Skeletal muscle hypertrophy, Impaired pain sensation, Paraparesi... |
ORPHA:99014 |
| Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Leg muscle stiffness, Distal se... |
ORPHA:101010 |
| Myopathy, Spheroid Body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Impaired distal tactile sensat... |
ORPHA:399081 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Babinski sign, Gait disturbance, Hand muscle weakness,... |
OMIM:302800 |
| Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Babinski sign, Frequent falls, Chaddock reflex, Distal lower limb amyotrophy, Decreased compound ... |
OMIM:619112 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Myopathy, Skeletal muscle atrophy, Steppage gait, Waddling gait, Flexion contracture, Scapular wi... |
OMIM:300695 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Babinski sign, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Distal sensory impai... |
OMIM:610250 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor, Hand muscle weakness, Somatic sensory dysfunction |
OMIM:300905 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Difficulty walking |
OMIM:158580 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Gait disturba... |
ORPHA:101077 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Triceps weakness, Weakness of the intrinsic hand muscl... |
OMIM:615575 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Spastic paraplegia, Babinski sign, Lower limb amyotrophy |
OMIM:617046 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Babinski sign, Frequent falls, Limb muscle weakness, H... |
OMIM:600361 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Upper limb amyotrophy, Thenar muscle weakness, Thenar mus... |
OMIM:601472 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Spastic paraplegia, Gait disturbance, Skeletal muscle atrophy, Scissor gait |
OMIM:615686 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Myoclonus, Generalized amyotrophy, Progressive gait ataxia, Intention tremor, Progressive cerebel... |
ORPHA:2589 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Babinski sign, Impaired vibration sensation at ankles, Lower limb spasticity, Leg muscle stiffnes... |
ORPHA:100985 |
| Lethal Congenital Contracture Syndrome 4 |
|
Multiple joint contractures, Distal arthrogryposis, Skeletal muscle atrophy, Flexion contracture |
OMIM:614915 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Babinski sign, Knee clonus, Upper limb spasticity, Distal amyotrophy, Dysmetria, Hammertoe, Spast... |
OMIM:275900 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Impaired temperature sensation, Upper limb amyotrophy, Talipes equinovarus, Limb fasciculations, ... |
ORPHA:99940 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia, Abnormality... |
OMIM:160120 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology, Distal amyotrophy, Lo... |
OMIM:607641 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Postural tremor, Babinski sign, Hand muscle weakness, Spastic gait, Abnormality of the foot muscu... |
ORPHA:100998 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Babinski sign, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Ankle clonus, Limb ataxia,... |
ORPHA:488594 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Roussy-Lévy Syndrome |
|
Clumsiness, Postural tremor, Babinski sign, Decreased motor nerve conduction velocity, Skeletal m... |
ORPHA:3115 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Babinski sign, Gait disturbance, Skeletal muscle atrophy, Upper limb spasticity, Lower limb spast... |
OMIM:611225 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy |
OMIM:614881 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Gait disturbance, Hammertoe, Steppage gait, Distal sensory impairment, Distal amyotrophy |
OMIM:616625 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Ataxia... |
OMIM:500002 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Talipes equinovarus, Arthrogryposis multiplex congenita, Conge... |
OMIM:208100 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Hypertonia, Skeletal muscle atrophy, Spasticity, Scissor gait |
ORPHA:401805 |
| Myopathy And Diabetes Mellitus |
|
Proximal amyotrophy, Babinski sign, Pelvic girdle muscle weakness, Weakness of facial musculature... |
ORPHA:2596 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Talipes equinovarus, Achilles tendon contracture, Knee flexion contracture, Fasc... |
OMIM:615290 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers, Myoclonus, Ataxia, Spasticity |
OMIM:545000 |
| Merrf |
|
Optic atrophy, Myopathy, Ragged-red muscle fibers, Ataxia, Multiple lipomas |
ORPHA:551 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis |
OMIM:182610 |
| Tibial Muscular Dystrophy |
|
Clumsiness, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipid content, Pe... |
ORPHA:609 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Babinski sign, Frequent falls, Hammertoe, Ataxia, Spasticity, Distal amyotrophy, Delayed skeletal... |
OMIM:618438 |
| Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Calf mu... |
OMIM:608099 |
| Neuronopathy, Distal Hereditary Motor, Type Iic |
|
Skeletal muscle atrophy, Steppage gait, Distal lower limb muscle weakness, Distal upper limb musc... |
OMIM:613376 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy |
OMIM:615025 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, D... |
OMIM:607317 |
| Polyglucosan Body Myopathy 2 |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness |
OMIM:616199 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Paresthesia, Fasciculations |
ORPHA:85162 |
| Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Proximal spinal muscular atrophy |
OMIM:271110 |
| Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, T... |
OMIM:605355 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia, Skeletal muscle atrophy |
OMIM:158500 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Mast Syndrome |
|
Babinski sign, Gait disturbance, Apraxia, Spastic paraplegia, Lower limb muscle weakness, Spastic... |
OMIM:248900 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Rimmed ... |
OMIM:616924 |
| Spinal Muscular Atrophy, Type Iii |
|
Skeletal muscle atrophy, Limb fasciculations, Hand tremor, Tongue fasciculations, Spinal muscular... |
OMIM:253400 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Lower limb spasticity, Difficul... |
ORPHA:401820 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weak grip, Weakness of the intrinsic hand muscles, Weakness of facial musculature, Wrist drop, Di... |
OMIM:619519 |
| Nonaka Myopathy |
|
Gait disturbance, EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-... |
OMIM:605820 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Split hand, Distal sens... |
OMIM:606595 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Babinski sign, Gait disturbance, Skeletal muscle atrophy, Limitation of movement... |
ORPHA:100988 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Z-band streaming, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... |
ORPHA:275872 |
| Spastic Paraplegia 2, X-Linked |
|
Babinski sign, Optic atrophy, Skeletal muscle atrophy, Dysmetria, Spastic gait, Lower limb spasti... |
OMIM:312920 |
| Arthrogryposis, Distal, Type 1B |
|
Contractures involving the joints of the feet, Distal arthrogryposis, Rocker bottom foot, Talipes... |
OMIM:614335 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... |
ORPHA:98810 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Clumsiness, Weakness of the intrinsic hand muscles, Steppage gait, EMG: myopathic abnormalities, ... |
ORPHA:399086 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Scapuloperoneal Myopathy, Myh7-Related |
|
Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities, Weakness of facial musculature |
OMIM:181430 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Babinski sign, Ankle flexion contracture, Optic atrophy, Flexion contracture of toe, Spastic gait... |
ORPHA:320396 |
| Spinocerebellar Ataxia Type 43 |
|
Foot dorsiflexor weakness, Distal upper limb muscle weakness, Cogwheel rigidity, Distal sensory i... |
ORPHA:497764 |
| Dysequilibrium Syndrome |
|
Cerebral palsy, Ataxia, Gait disturbance, Skeletal muscle atrophy |
ORPHA:1766 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Progressive gait ataxia,... |
OMIM:607458 |
| Spinal Muscular Atrophy, Type Iv |
|
Proximal amyotrophy, Hand tremor, Tongue fasciculations, Spinal muscular atrophy, Degeneration of... |
OMIM:271150 |
| Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, ... |
ORPHA:247604 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Optic atrophy, Dysmetria, Hamstring cont... |
OMIM:210000 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia... |
ORPHA:95434 |
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Distal sensory impairment, Spinal muscular atrophy, Unsteady gait, Distal amyotrophy |
OMIM:300489 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Fasciculations |
OMIM:182980 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis, Distal amyo... |
ORPHA:496756 |
| Kufor-Rakeb Syndrome |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... |
OMIM:606693 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Monomelic Amyotrophy |
|
Abnormality of the upper limb, Distal upper limb amyotrophy, Fasciculations, Tremor, Abnormality ... |
ORPHA:65684 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Gait disturbance, Tremor, Metaphyseal chondrodysplasia, Spastic paraplegia |
OMIM:300660 |
| Leber Hereditary Optic Neuropathy |
|
Postural tremor, Ataxia, Myopathy, Optic atrophy |
ORPHA:104 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Paraparesis, A... |
OMIM:105550 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Limb muscle weakness, Di... |
OMIM:609260 |
| Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Hand tremor, Tongue fasciculations, Spinal muscular atrophy, Degeneratio... |
OMIM:253550 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Gait disturbance, Limb muscle weakness |
OMIM:609273 |
| Gemignani Syndrome |
|
Ataxia, Impaired pain sensation, Skeletal muscle atrophy, Hemiplegia/hemiparesis |
ORPHA:2074 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle atrophy, Hammertoe, Thenar muscle weakness, Abnormal motor nerve c... |
ORPHA:139536 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Gait disturbance, Skeletal muscle atrophy, Talipes equinovarus, Spasticity, Spastic paraplegia |
OMIM:615683 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... |
ORPHA:178464 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Rigidity, Bradykinesia, Fasciculations, Decreased nerve conduction veloc... |
OMIM:183050 |
| Myopathy, Distal, 4 |
|
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Ab... |
OMIM:614065 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis, Proximal amyotrophy, Myopathy |
OMIM:262900 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Babinski sign, Upper limb amyotrophy, Talipes equinovarus, Lower limb spasticity, Knee flexion co... |
ORPHA:496689 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Proximal amyotrophy, Hammertoe, Distal sensory impairment, Waddling gait, Decreased compound musc... |
OMIM:616040 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Progressive distal muscular atrophy, Myoclonus, Facial palsy, Fasciculations, Tre... |
OMIM:159950 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Paresthesia, Quadriceps muscle weakness, Proximal muscle weakness in upper limbs,... |
ORPHA:435387 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Babinski sign, Optic atrophy, Abnormality of peripheral nerve conduction, Distal lower limb amyot... |
ORPHA:431329 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Palmoplantar hyperkeratosis, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Hammertoe, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Distal amyotrophy... |
OMIM:618387 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Spastic paraparesis, Spastic ataxia |
OMIM:613672 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Tremor, Ataxia, Distal l... |
ORPHA:101075 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:612577 |
| Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
| Developmental And Epileptic Encephalopathy 69 |
|
Dystonia, Myoclonus, Arthrogryposis multiplex congenita, Spastic tetraplegia, Inability to walk, ... |
OMIM:618285 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Babinski sign, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weak... |
OMIM:613954 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... |
ORPHA:726 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Ataxia, Myopathy |
ORPHA:2579 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:608323 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Talipes equinovarus, Abnormality of extrapyramid... |
OMIM:260300 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:614751 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... |
ORPHA:352675 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Myopathy, Distal, 3 |
|
Clumsiness, Steppage gait, Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed va... |
OMIM:610099 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Peroneal muscle weakness, Babinski sign, Gait disturbance, Hand muscle weakness, Decreased motor ... |
ORPHA:101076 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Quadriceps muscle weakness, Joint contracture of the hand, Weakness of facial musculature, Should... |
ORPHA:99948 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Myopathy, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture, Tongue fascicula... |
OMIM:301830 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Upper limb muscle weakness,... |
OMIM:607678 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... |
OMIM:607483 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Waddling gait, Myofibrillar ... |
OMIM:609524 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular atrophy, Distal am... |
OMIM:607088 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Gait disturbance, Myopathy, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Babinski sign, Skeletal muscle atrophy, Dysmetria, Lower limb spasticity, Distal sensory impairme... |
OMIM:616907 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Fasciculations, Distal senso... |
OMIM:614436 |
| Nemaline Myopathy 7 |
|
Gait disturbance, Minicore myopathy, Myofibrillar myopathy, Joint hypermobility, Nemaline bodies |
OMIM:610687 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresthesia, Quadriceps muscle weakness, Foot pain, Somatic sensory dysfunction, Hand tremor, Dis... |
ORPHA:99947 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... |
ORPHA:101078 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic para... |
OMIM:610357 |
| Myopathy, Myofibrillar, 6 |
|
Diaphragmatic paralysis, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, Knee... |
OMIM:612954 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Talipes equinovarus, Quadriceps muscle weakness, Proximal muscle weakness in upper limbs, Distal ... |
ORPHA:101097 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign, Hammertoe, Split hand, Distal amyotroph... |
OMIM:605726 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Babinski sign, Spastic gait, Lower limb spasticity, Progressive spastic paraparesis, Distal lower... |
ORPHA:444099 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Hyperekplexia 4 |
|
Distal arthrogryposis, Adducted thumb, Talipes equinovarus, Myoclonus, Inguinal hernia, Hypertoni... |
OMIM:618011 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Skeletal muscle atrophy, Talipes equinovarus, Contractures of the joints of the lower ... |
OMIM:613710 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormality of the Achilles tendon, L... |
ORPHA:98763 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Myopathy, Hand muscle weakness, Ragged-red muscle fibers, Paresthesia, Facial pals... |
ORPHA:254886 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Proximal amyotrophy, Spinal muscular atrophy, Fasciculations |
OMIM:271200 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Babinski sign, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphol... |
OMIM:602099 |
| Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, Bradykinesia, EMG: myopathic abnormalities, Difficulty ... |
ORPHA:171442 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Myoclonus, Generalized amyotrophy, Gait ataxia |
OMIM:616540 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Skeletal muscle atrophy, Tongue fasciculations, Ataxia, Inability to walk, Spasticity, ... |
OMIM:618276 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Gait disturbance, Pelvic girdle muscle weakness, Myopathy, Dystonia, Limb muscle weakness, Amyotr... |
OMIM:167320 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
| Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Rigidity, Orthostatic hypotension, Myoc... |
ORPHA:97355 |
| Partington Syndrome |
|
Focal dystonia, Lower limb spasticity, Flexion contracture, Camptodactyly, Limb dystonia |
OMIM:309510 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Babinski sign, Myopathy, Ataxia, Spasticity, Difficulty walking |
OMIM:618242 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Postural tremor, Decreased motor nerve conduction velocity, Upper limb amyotrophy, Hammertoe, Spl... |
ORPHA:99950 |
| Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... |
ORPHA:98902 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Ankle flexion contracture, Tremor, Distal sensory impairment, Foot dorsiflexor weakness, Abnormal... |
OMIM:616668 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Frequent falls, Facial diplegia, EM... |
ORPHA:329478 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Impaired vibration sensation at ankles, Areflexia of upper limbs, Upper limb amyotrophy, Distal u... |
ORPHA:90103 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Ragged-red muscle fibers, Skeletal muscle atrophy, Fasciculations, Tetrapl... |
OMIM:300816 |
| Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Impaired pain sensation, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis |
ORPHA:2815 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Gait disturbance, Impaired pain... |
ORPHA:139578 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Babinski sign, Optic atrophy, Distal amyotrophy, Distal lower limb muscle weakness, Progressive s... |
ORPHA:468661 |
| Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
| Childhood-Onset Nemaline Myopathy |
|
Clumsiness, Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscl... |
ORPHA:171439 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Rigid Spine Syndrome |
|
Myopathy, Skeletal muscle atrophy, Hip contracture, Hamstring contractures, Waddling gait, Elbow ... |
ORPHA:97244 |
| Wahab Syndrome |
|
Ankylosis, Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Cam... |
OMIM:615170 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired proprioception, Paresthesia, Fasciculations, Proximal muscle weakness in upper limbs, So... |
ORPHA:101085 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Skeletal muscle atrophy, Osteoporosis, Tetraplegia, Hip dislocation, Hip subluxation, Recurrent f... |
OMIM:256720 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Hammertoe, Distal sensory impairment, Action tremor, D... |
OMIM:180800 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Joint hypermobility, Myopathy, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired proprioception, Babinski sign, Spastic dysarthria, Lower limb spasticity, Impaired vibra... |
ORPHA:352641 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction, Paraparesis, Spastic paraplegia, Lower limb pain, Upp... |
ORPHA:101005 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Babinski sign, Dystonia, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... |
OMIM:205100 |
| Masa Syndrome |
|
Gait disturbance, Hand clenching, Camptodactyly of finger, Spastic paraplegia, Clinodactyly of th... |
ORPHA:2466 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atr... |
OMIM:604286 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Upper limb muscle weakness,... |
OMIM:302801 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Talipes equinovarus, Writer's cramp, Torticollis, Brady... |
OMIM:128230 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... |
ORPHA:1878 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Myopathy |
OMIM:551500 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Nemaline Myopathy 2 |
|
Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, Arthrogryposis m... |
OMIM:256030 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Myoclonus, Increased intramyocellular lipid droplets, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:612016 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Spastic tetraplegia, Ataxia, Spasticity, Distal amyotrophy, Spinal muscular atroph... |
OMIM:617207 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Frequent falls, Facial diplegia, Achilles tendon contracture, EMG: myopathic... |
ORPHA:370980 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... |
OMIM:600363 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hype... |
ORPHA:254343 |
| Muscular Dystrophy, Congenital, Producing Arthrogryposis |
|
Myopathy, Arthrogryposis multiplex congenita, Congenital muscular dystrophy |
OMIM:253900 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Proximal amyotrophy, Gait disturbance, Hand tremor, Fasciculations, Tetraplegia, Distal sensory i... |
OMIM:604484 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Gait disturbance, Dystonia, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Babinski sign, Gait disturbance, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Lower lim... |
ORPHA:100984 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Distal amyotrophy |
OMIM:619099 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
| Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity |
OMIM:616981 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hammertoe, Limb muscle weakne... |
OMIM:613287 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
| Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... |
OMIM:602629 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Ragged-red muscle fibers, Frequent falls, Muscle fiber tubular inclusions, Facial palsy... |
ORPHA:353327 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Babinski sign, Clonus, Lower limb amyotrophy, Spastic gait, Lower limb spasticity, Impaired vibra... |
ORPHA:171863 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
| Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy, Genu varum, Arthralgia of the hip, Reduced arm span, Fragmentation of the metacarpal ep... |
ORPHA:166002 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem ga... |
OMIM:619028 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor, Ataxia |
OMIM:618876 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited elbow flexion, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, L... |
ORPHA:266 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... |
OMIM:612937 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Congenital contracture, Fasciculations, Ataxia, Spinal muscular atrophy, Degeneration of anterior... |
OMIM:607596 |
| Marinesco-Sjögren Syndrome |
|
Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal muscle a... |
ORPHA:559 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scapuloperoneal amyotrophy, Talipes equinovarus, Joint contracture of the hand, Waddling gait, Ab... |
OMIM:611067 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Myopathy, Chorea, Muscle fiber atrophy, Muscular dystrophy, Waddling gait, Truncal ataxia, Limb-g... |
ORPHA:369840 |
| Bethlem Myopathy 2 |
|
Myopathy, Atrophic scars, Hip dislocation, Increased variability in muscle fiber diameter, Flexio... |
OMIM:616471 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Gait disturbance, Myopathy, Minicore myopathy, Scapular winging, EMG: myopathic abnormalities, Mu... |
ORPHA:424107 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Ulnar deviation of the hand, Distal upper limb amyotrophy, Joint contracture of th... |
OMIM:258650 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
| Dystonia 11, Myoclonic |
|
Torticollis, Myoclonus, Writer's cramp, Tremor |
OMIM:159900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Leg muscle st... |
ORPHA:391411 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Fasciculations, Split hand, Distal sensory impairment, Hypertonia, Abnormal pyramidal sign, Foot ... |
OMIM:616688 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Paraparesis |
ORPHA:231445 |
| Myopathy, Congenital, With Tremor |
|
Postural tremor, EMG: myopathic abnormalities, Flexion contracture, Scapular winging, Tongue tremor |
OMIM:618524 |
| Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Difficulty walking, Fasciculations |
OMIM:610717 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Myopathy, Abnormal auditory evoked potentials, Optic atrophy, Ataxia, Increased... |
OMIM:125250 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Facial palsy, Nemaline bodie... |
OMIM:607684 |
| X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... |
ORPHA:1175 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst... |
ORPHA:267 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Limb fasciculations, Tremor, Distal sensory impairment, Inability to walk, Abnormal peripheral ac... |
ORPHA:90117 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly |
OMIM:618453 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Achilles tendon contracture, Facial palsy, Shoulder girdle muscle... |
OMIM:604801 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... |
ORPHA:397946 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Choreoathetosis, Frequent fal... |
ORPHA:225154 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia, Skeletal muscle atrophy |
OMIM:613402 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dystonia, Optic atrophy, Chorea, Myoclonus, Ataxia, Cran... |
OMIM:617282 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
| Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Skeletal muscle atrophy, Dysmetria, Hand tremor, Fasciculations, I... |
ORPHA:276198 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
| Arthrogryposis, Distal, Type 2B2 |
|
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Short toe, Sandal gap, ... |
OMIM:618435 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610140 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Poor motor coordination, Myoclonus, Reduced subcutaneous adipose tissue, Reduced intraa... |
ORPHA:363400 |
| Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Waddling gait, Difficulty walking... |
OMIM:609285 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, EMG: myopathic abnormalities, Decreased nerve conduction velocity, Arthritis, Tremor, I... |
ORPHA:397744 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Frequent falls, Achilles tendon contracture, Scapular winging, Sho... |
OMIM:603689 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Skeletal muscle atrophy, Dysmetria, Myoclonus, Increased intramyocellular lipid droplet... |
OMIM:614487 |
| Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus |
ORPHA:36899 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Facial palsy, Myopathy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Nemaline bodies, D... |
OMIM:609284 |
| Marinesco-Sjogren Syndrome |
|
Myopathy, Coxa valga, Skeletal muscle atrophy, Short metatarsal, Cubitus valgus, Rimmed vacuoles,... |
OMIM:248800 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Impaired distal tactile sensation, Hammertoe, Decreased distal sensory nerve ac... |
OMIM:618400 |
| Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint c... |
ORPHA:98911 |
| Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
| Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Osteoporosis, Limitation of joint mobility, Camptodactyly of finger, Mul... |
ORPHA:3294 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Areflexia of upper limbs, Impaired temperature sensation, Triceps weakness, Impaired pain sensati... |
OMIM:619574 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Babinski sign, Optic atrophy, Head titubation, Dysmetria, Fasciculations, Intention tremor, Ataxi... |
OMIM:615491 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Generalized limb muscle atrophy, Paresthesia, Talipes equinovarus, Frequent falls,... |
ORPHA:466794 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Paresthesia... |
ORPHA:101081 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Impaired proprioception, Babinski sign, Clonus, Lower limb amyotrophy, Spastic gait, Lower limb s... |
ORPHA:100999 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired distal proprioceptio... |
OMIM:162400 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Adducted thumb, Frequent falls, Torticollis, Generalized amyotr... |
ORPHA:75840 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Talipes equinovarus, Proximal lower limb amyotr... |
OMIM:600175 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
| Spondylocamptodactyly |
|
Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait, Elbow f... |
OMIM:619470 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Spastic tetraparesis, Spinal muscular atrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616081 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Babinski sign, Gait disturbance, Skeletal muscle atrophy, Pseudobulbar paralysis, Tremor, Tetrapl... |
OMIM:616586 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Inability to walk, Myopathy |
OMIM:616321 |
| Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Fasciculations |
OMIM:614808 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Ataxia, Attention deficit hyperactivity disorder, Spasticity, Paraparesis |
OMIM:617854 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Limb muscle weakness, Vocal c... |
OMIM:614895 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly |
OMIM:264010 |
| Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... |
OMIM:618218 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Myopathy, Facial palsy |
OMIM:253320 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Paresthesia, Camptodactyly of finger, Weakness of long finger extensor muscles, Gait disturbance,... |
ORPHA:324442 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Decreased amplitude of sensory action potentials |
OMIM:608673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Dystonia, Myoclonus, Increased intramyocellular lipid droplets, Ataxia, Spastic di... |
OMIM:619065 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Hammertoe, Steppage gait, Limb muscle weakness, Distal... |
OMIM:118210 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
| Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Rocker bottom foot, Arthrogryposis multiplex congenita, Flexion contract... |
OMIM:618393 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal tactile sensation, Hammertoe, Steppage... |
OMIM:610100 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnormal cranial nerve mor... |
OMIM:605253 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Babinski sign, Gait disturbance, Limb fasciculations, Spastic gait, Increased spinal bone density... |
ORPHA:329475 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal amyotrophy, Toe extensor amyotrophy, Peroneal muscle atrophy, Proximal muscle weakness i... |
ORPHA:98856 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Limited elbow flexion, Somatic sensory dysfunction, Ga... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Steppage gait, Upper limb muscle weakness, Distal sensory impairment, Distal amyotrophy |
OMIM:607677 |
| Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Myopathy, Optic atrophy, Hypertonia, Lethargy |
ORPHA:26792 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Skeletal muscle atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdia... |
OMIM:615157 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements |
OMIM:618497 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Babinski sign, Optic atrophy, Dysmetria, Achilles tendon contracture, Decreased nerve conduction ... |
OMIM:612674 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Camptodactyly |
OMIM:217990 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder |
OMIM:612736 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Myopathy, Waddling gait, Muscle fiber inclusion bodies, Scapular winging, Congenital contracture |
OMIM:605637 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment, Distal amyotrophy |
OMIM:607731 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Spastic gait, Myoclonus, Lower limb spasticity, Ataxia, Broad-based gait, Parkinsonism, Lower lim... |
ORPHA:306511 |
| X-Linked Immunoneurologic Disorder |
|
Hypertonia, Myopathy, Hemiplegia/hemiparesis |
ORPHA:2571 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Vocal cord pare... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired proprioception, Babinski sign, Fiber type grouping, Distal lower limb amyotrophy, Impair... |
OMIM:500013 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired proprioception, Optic atrophy, Skeletal muscle atrophy, Decreased sensory nerve conducti... |
OMIM:609033 |
| Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Myoclonus, Fasciculations, Hyperkinetic movements |
OMIM:611721 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Dystonia, Gait disturbance, Skeletal muscle atrophy, Rigidity, Ataxia |
OMIM:618239 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Gait disturbance, Myopathy, Multiple joint contractures, Limb-girdle muscle weakness, Difficulty ... |
ORPHA:352470 |
| Autosomal Recessive Spastic Paraplegia Type 18 |
|
Babinski sign, Ankle flexion contracture, Hip contracture, Flexion contracture of toe, Macrogloss... |
ORPHA:209951 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Skeletal muscle atrophy, Hip contracture, Rocker bottom foot, Knee fle... |
ORPHA:1143 |
| Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiparesis, Ataxia, Hemiplegia |
OMIM:141500 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Involuntary movements, Central core regions in muscle fibers, Dystonia, Optic atrophy, Progressiv... |
ORPHA:401768 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Abnormal mitochondria in muscle tissue, Dysmetria, Myoclonus, Spastic dysarthria, Oculo... |
ORPHA:313772 |
| Spinal Muscular Atrophy, Type I |
|
Proximal amyotrophy, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Tongue fas... |
OMIM:253300 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis |
OMIM:616726 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
| Ocular Myopathy With Curare Sensitivity |
|
Myopathy, Limb muscle weakness |
OMIM:257600 |
| Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Hammertoe, Limb muscle weakness, Steppage gait, Split ... |
OMIM:118300 |
| Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Limb hypertonia, Talipes equinovarus, Spastic gait, Lower limb spasticity, Impaired vibration sen... |
ORPHA:401815 |
| X-Linked Adrenoleukodystrophy |
|
Clumsiness, Paralysis, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... |
ORPHA:43 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... |
OMIM:606777 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Impaired proprioception, Gait disturbance, Dystonia, Skeletal muscle atrophy, Ga... |
ORPHA:98755 |
| Hereditary Geniospasm |
|
Abnormality of mentalis muscle, Chin myoclonus |
ORPHA:53372 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Hypomimic f... |
OMIM:300423 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Impaired temperature sensation, Clubbing, Impaired t... |
ORPHA:2199 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Babinski sign, Arthrogryposis multiplex congenita, Spasticity, Distal amyotrophy, Broad-based gai... |
OMIM:162370 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Myopathy, Skeletal muscle atrophy, Limitation of joint mobility, Flexion contra... |
ORPHA:157973 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex, Tremor, Difficulty... |
OMIM:613608 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Contractures of the joints of the upper limbs, Clonus, Opisthotonus, Amyo... |
ORPHA:300605 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Babinski sign, Dystonia, Decreased motor nerve conduction velocity, Head ... |
OMIM:608804 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Gait disturbance, Optic atrophy, Rigidity, Frequent falls, Chorea, Orom... |
ORPHA:216873 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Upper limb amyotrophy, Gait imbalance, Talipes equinov... |
ORPHA:99953 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Vertebral fusion, Frequent falls, Macroglossia, Achilles tendon contracture,... |
OMIM:606612 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Spastic paraplegia, Distal amyotrophy |
OMIM:182815 |
| Spastic Paraplegia 16, X-Linked |
|
Babinski sign, Facial hypotonia, Lower limb spasticity, Shuffling gait, Tetraplegia, Short distal... |
OMIM:300266 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Dystonia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass o... |
OMIM:610978 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Loss of ability to w... |
ORPHA:34516 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Paraparesis, Attention deficit hyperactivity disorder, Sl... |
OMIM:300100 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Frequent falls, Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapula... |
ORPHA:353 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
First dorsal interossei muscle atrophy, Babinski sign, Thenar muscle weakness, Spastic gait, Lowe... |
ORPHA:171617 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Ach... |
ORPHA:254361 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:98863 |
| Perching Syndrome |
|
Flexion contracture, Camptodactyly |
OMIM:617055 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Gait disturbance, Steppage gait, EMG: myopathic abnormalities, Decreased nerve conduction velocit... |
ORPHA:99939 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
| Distal Myopathy, Tateyama Type |
|
Clumsiness, Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnorm... |
ORPHA:488650 |
| Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Pseudobulbar paralysis, Amyotrophic lateral sclerosis, Fasciculations, S... |
OMIM:105400 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:98853 |
| Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy, Avascular necrosis, Delayed skeletal maturation |
ORPHA:2380 |
| Primary Angiitis Of The Central Nervous System |
|
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism, Pseudopapilledema |
ORPHA:140989 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, Spasticity, Oculogyric cr... |
OMIM:614254 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Babinski sign, Skeletal muscle hypertrophy, Macroglossia, Achilles tendon contracture, Facial pal... |
OMIM:608840 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
| Leber Optic Atrophy |
|
Postural tremor, Dystonia, Myopathy, Optic atrophy, Optic neuropathy, Ataxia |
OMIM:535000 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... |
OMIM:604326 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Exaggerated start... |
ORPHA:320406 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Skeletal muscle atrophy, Talipes equinovarus, Macroglossia, Muscular dystrophy... |
OMIM:616827 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials |
OMIM:608105 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Gait disturbance, Acroparesthesia, Prolonged brainstem auditory evoked potentials, Fr... |
ORPHA:206443 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita, Knee fle... |
OMIM:616286 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Dystonia, Myopathy, Spastic tetraplegia, Flexion contracture |
OMIM:618237 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Distal amyotrophy, Gait... |
OMIM:606183 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Myoclonus, Knee flexion contracture, Elbow flexion contracture |
OMIM:619303 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Generalized limb muscle atrophy, Optic atrophy... |
ORPHA:137898 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Type 1 muscle fiber predominance, Minicore myopathy, Z-band streaming, Tongue fasciculations, Cen... |
OMIM:618823 |
| Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking, Facial myokymia |
ORPHA:324588 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia |
OMIM:615768 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy |
ORPHA:1216 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Hand clenching, Limb apraxia, Br... |
ORPHA:240103 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy, Waddling gait |
OMIM:602541 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Bethlem Myopathy |
|
Generalized amyotrophy, Quadriceps muscle weakness, Camptodactyly of finger, Elbow flexion contra... |
ORPHA:610 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Joint contracture of the hand, Fasciculations, Proximal muscle weakness in upper limbs, Distal up... |
ORPHA:466768 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Pelvic girdle muscle weakness, Facial palsy, EMG: myopathic abnormalities, Shoulder girdle muscle... |
OMIM:611307 |
| Poliomyelitis |
|
Paralysis, Stiff neck, Skeletal muscle atrophy, Abnormal skeletal muscle morphology, Paresthesia,... |
ORPHA:2912 |
| Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Distal amyotrophy, Dysmetria, Myoclonus, Bradykinesia, Fasciculations,... |
OMIM:183090 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... |
OMIM:618598 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Myosclerosis, Autosomal Recessive |
|
Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Restricted neck movement due ... |
OMIM:255600 |
| Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign |
OMIM:125370 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly |
OMIM:614257 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... |
OMIM:300894 |
| Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Atelectasis, Interlobular septal thickening,... |
ORPHA:2302 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Myopathy, Facial palsy, Flexion contracture, Lethargy |
OMIM:201470 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Ragged-red muscle fibers, Impaired distal proprioception, Rigidity, Steppage gait,... |
OMIM:258450 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Optic atrophy, Tapered finger, Dysmetria, Steppage gait, Myoclonus, Intention trem... |
OMIM:616505 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy |
OMIM:233910 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Knee clonus, Skeletal muscle atrophy, Spastic gait, Lower limb spasticity, Impaire... |
OMIM:604360 |
| Isaac Syndrome |
|
Distal sensory impairment, Calf muscle hypertrophy, Fasciculations |
ORPHA:84142 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Chorea, Hyperkinetic movements, Limb-girdle muscular dystrophy, Truncal ataxia, Difficu... |
ORPHA:369847 |
| Dystonia 28, Childhood-Onset |
|
Gait disturbance, Dystonia, Torticollis, Oromandibular dystonia, Myoclonus, Retrocollis, Laryngea... |
OMIM:617284 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... |
ORPHA:98762 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Involuntary movements, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, T... |
ORPHA:238329 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Gait disturban... |
ORPHA:98855 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
