Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... |
ORPHA:219 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Inability t... |
ORPHA:482601 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... |
ORPHA:320370 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, ... |
OMIM:616282 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Spastic paraplegia, Babinski sign, Optic atrophy, Distal sensory impai... |
OMIM:615043 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Impaire... |
OMIM:612335 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... |
OMIM:615048 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Knee flexion contracture, Tip-toe gait, D... |
ORPHA:401785 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal... |
ORPHA:357043 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... |
ORPHA:276435 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... |
ORPHA:603 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Babinski sign, Tip-toe gait, Difficulty w... |
OMIM:615681 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Impaired pain sensation, Impaired distal vibr... |
OMIM:300905 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Clonus, Spastic paraplegia, Scissor gait, Babinski sign, Hypertonia, Gai... |
OMIM:615686 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I... |
OMIM:619216 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Hammertoe, Impaired vib... |
OMIM:182960 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... |
OMIM:617046 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Spastic paraplegia, Babi... |
OMIM:615658 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we... |
OMIM:302802 |
Arthrogryposis, Distal, Type 10 |
|
Camptodactyly of finger, Elbow flexion contracture, Plantar flexion contracture, Hamstring contra... |
OMIM:187370 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased compound muscle action potential a... |
OMIM:619112 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Distal amyotrophy,... |
OMIM:617018 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Distal sensory... |
OMIM:610250 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:600794 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:612539 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Incoordination, Hand mus... |
OMIM:302800 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy,... |
ORPHA:99014 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Amyotrophy of ankle musculature, Impaired vibration sensation in the l... |
ORPHA:399081 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Upp... |
OMIM:606595 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Inability to walk, Babinski sign, Spastic paraple... |
OMIM:611225 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Fiber type grouping, Distal amyotrophy, Distal sensory impairment |
OMIM:614369 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Claw hand deformity, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:618511 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... |
ORPHA:101077 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... |
OMIM:500002 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, F... |
OMIM:615575 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Lower limb pain, Babinski sign, Abnormal pyramidal sig... |
OMIM:600361 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... |
ORPHA:309169 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:601472 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... |
ORPHA:2589 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... |
ORPHA:100985 |
Episodic Ataxia, Type 1 |
|
Incoordination, Abnormality of the hand, Tremor, Babinski sign, Slurred speech, Episodic ataxia, ... |
OMIM:160120 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle atrophy, Hand muscle weakness, Distal sensory impairment, Distal amyotrophy, Steppage... |
OMIM:616280 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic... |
OMIM:615025 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Distal lower limb amyotrophy, Impaired temperature sensation, Impaired pain sensation, Upper limb... |
ORPHA:99940 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... |
OMIM:607641 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... |
ORPHA:488594 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Impaired dista... |
OMIM:270685 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Decreased mot... |
ORPHA:3115 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... |
ORPHA:100998 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal sensory impairment, Distal amyotrophy, Steppage gait, Gait disturbance, Hammertoe |
OMIM:616625 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu... |
OMIM:208100 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Inability to walk, Achilles tendon co... |
ORPHA:2596 |
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 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Lower limb spasticity, Ankle flexion contracture, Spastic paraplegia, Babinski sign, Optic atroph... |
ORPHA:320396 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness |
OMIM:614881 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Spasticity, Hypertonia, Scissor gait |
ORPHA:401805 |
Merrf |
|
Ataxia, Ragged-red muscle fibers, Optic atrophy, Myopathy, Multiple lipomas |
ORPHA:551 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Joint stiffness, Rigidity, Chorea, Choreoathetosis, Hyperkine... |
ORPHA:98810 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber... |
OMIM:616924 |
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 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies |
OMIM:609273 |
Nonaka Myopathy |
|
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Tremor, Proximal amyotrop... |
OMIM:605355 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... |
OMIM:605726 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Spastic paraplegia, Babinski... |
OMIM:613162 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Generalized amyotrophy, Difficulty walking, Sp... |
ORPHA:401820 |
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, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Impaired dist... |
OMIM:619519 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... |
OMIM:616668 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... |
OMIM:607684 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, G... |
OMIM:615157 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Limitation of movem... |
ORPHA:100988 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ... |
OMIM:620323 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Tibialis anterior muscle atrophy, Impaired distal vibration sensation, Low... |
OMIM:615035 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance |
ORPHA:1766 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness |
OMIM:618036 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... |
OMIM:607458 |
Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... |
OMIM:614335 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Babinski sign, Optic atro... |
OMIM:609260 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... |
ORPHA:95434 |
Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Distal amyotrophy, Unsteady gait, Spinal muscular atrophy, Distal sensory impairment |
OMIM:300489 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Fatty replacement of skeletal muscle, Decreased compound muscle action p... |
OMIM:618279 |
Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... |
OMIM:618285 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Myopathy, Optic atrophy, Ataxia |
ORPHA:104 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Spastic paraplegia, Gait disturbance, Talipes equinovarus, Spasticity |
OMIM:615683 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... |
ORPHA:247604 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... |
OMIM:616688 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... |
ORPHA:139536 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Distal sensory i... |
ORPHA:399086 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Babinski sign, Spastic parap... |
OMIM:312920 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Ataxia |
ORPHA:2579 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of the upp... |
ORPHA:65684 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Dysmetria, Lower limb muscle weakness, Distal amyotrophy, Upper limb spastic... |
OMIM:275900 |
Spinocerebellar Ataxia Type 43 |
|
Unsteady gait, Limb ataxia, Distal sensory impairment, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:497764 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... |
OMIM:253550 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Gemignani Syndrome |
|
Hemiplegia/hemiparesis, Skeletal muscle atrophy, Ataxia, Impaired pain sensation |
ORPHA:2074 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis |
OMIM:309560 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... |
OMIM:300695 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy... |
ORPHA:431329 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... |
OMIM:608358 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8 |
|
Calf muscle hypertrophy, Distal amyotrophy |
OMIM:618135 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Broad-based gait, Scapular winging, Lower limb spasticity, Spinal... |
OMIM:615290 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fas... |
OMIM:183050 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... |
OMIM:607483 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,... |
ORPHA:435387 |
Myopathy, Myofibrillar, 3 |
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Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... |
ORPHA:101075 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
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Distal lower limb amyotrophy, Foot osteomyelitis, Somatic sensory dysfunction, Decreased motor ne... |
OMIM:600882 |
Spastic Ataxia 2, Autosomal Recessive |
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Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Dystonia 23 |
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Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Steppage ga... |
OMIM:618387 |
Episodic Ataxia With Slurred Speech |
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Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Pyknoachondrogenesis |
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Stillbirth |
OMIM:265880 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
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Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Impaire... |
ORPHA:352675 |
Myopathy, Distal, 3 |
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Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abno... |
OMIM:610099 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
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Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Clasp-knife sign, Tibial... |
ORPHA:101076 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
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Ataxia, Babinski sign, Ragged-red muscle fibers, Myopathy, Difficulty walking, Spasticity |
OMIM:618242 |
Nemaline Myopathy 7 |
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Waddling gait, Frequent falls, Fatty replacement of skeletal muscle, Knee flexion contracture, Sh... |
OMIM:610687 |
Adult-Onset Nemaline Myopathy |
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Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... |
ORPHA:171442 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
Primary Orthostatic Tremor |
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Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Myopathy, Tubular Aggregate, 1 |
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Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
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Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... |
OMIM:607678 |
Striatonigral Degeneration, Infantile, Mitochondrial |
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Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:99947 |
Partington Syndrome |
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Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly |
OMIM:309510 |
Dystonia 6, Torsion |
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Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Charcot-Marie-Tooth Disease Type 4A |
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Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle weakness, Motor conductio... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
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Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
Myopathy, Myofibrillar, 5 |
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Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... |
OMIM:609524 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... |
OMIM:607706 |
Myoclonus, Familial, 1 |
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Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Myoclonus-Dystonia Syndrome |
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Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Zebra Body Myopathy |
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Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... |
ORPHA:97240 |
Spinal Muscular Atrophy, X-Linked 2 |
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Inguinal hernia, Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Decreased co... |
OMIM:301830 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
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Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Foot dorsiflex... |
OMIM:137200 |
Spinocerebellar Ataxia 20 |
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Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velo... |
ORPHA:101078 |
Spastic Paraplegia 30, Autosomal Dominant |
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Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Dys... |
OMIM:610357 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
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Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... |
OMIM:607088 |
Autosomal Recessive Progressive External Ophthalmoplegia |
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Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atr... |
ORPHA:254886 |
Spastic Paraplegia 76, Autosomal Recessive |
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Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... |
OMIM:616907 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Myopathy, Proximal mus... |
OMIM:615424 |
Spinocerebellar Ataxia Type 14 |
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Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Mast Syndrome |
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Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... |
OMIM:248900 |
Hyperekplexia 4 |
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Inguinal hernia, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonus, Talipes equin... |
OMIM:618011 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Skeletal muscle atrophy, Impaired distal proprioception, Hand muscle weakness, Quadriceps muscle ... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... |
OMIM:614436 |
Spinocerebellar Ataxia With Epilepsy |
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Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
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Skeletal muscle atrophy, Dystonia, Ataxia, Inability to walk, Tongue fasciculations, Type 1 muscl... |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
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Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... |
OMIM:613287 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
Childhood-Onset Nemaline Myopathy |
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Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
Progressive Myoclonic Epilepsy Type 1 |
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Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Carnitine Deficiency, Myopathic |
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Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Welander Distal Myopathy |
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Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Dystonia 11, Myoclonic |
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Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Spastic Paraplegia 85, Autosomal Recessive |
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Impaired vibratory sensation, Lower limb spasticity, Torticollis, Impaired temperature sensation,... |
OMIM:619686 |
Amish Nemaline Myopathy |
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Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Spinal Muscular Atrophy, Ryukyuan Type |
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Spinal muscular atrophy, Fasciculations, Proximal amyotrophy |
OMIM:271200 |
Rigid Spine Syndrome |
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Waddling gait, Skeletal muscle atrophy, Hip contracture, Elbow flexion contracture, Hamstring con... |
ORPHA:97244 |
Congenital Myopathy With Myasthenic-Like Onset |
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Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... |
ORPHA:424107 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
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Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb ... |
ORPHA:254343 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia |
OMIM:213000 |
Spastic Paraplegia 5A, Autosomal Recessive |
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Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio... |
OMIM:270800 |
Autosomal Recessive Spastic Paraplegia Type 74 |
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Babinski sign, Optic atrophy, Distal amyotrophy, Difficulty walking, Distal lower limb muscle wea... |
ORPHA:468661 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
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Decreased compound muscle action potential amplitude, Flexion contracture, Myopathy, Generalized ... |
OMIM:618323 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
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Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Spastic Ataxia 4, Autosomal Recessive |
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Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... |
OMIM:613672 |
Dystonia, Dopa-Responsive |
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Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Spastic Paraparesis-Deafness Syndrome |
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Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis |
ORPHA:2815 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
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Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Bethlem Myopathy 2 |
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Scapular winging, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, Atrophic s... |
OMIM:616471 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Skeletal muscle atrophy, Paralysis, Distal sensory impairment, Lower-limb joint contracture, Tali... |
OMIM:613710 |
Myopathy, Distal, With Anterior Tibial Onset |
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Loss of ambulation, Myopathy |
OMIM:606768 |
Segawa Syndrome, Autosomal Recessive |
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Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Autosomal Dominant Spastic Paraplegia Type 3 |
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Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Rigidity, Babi... |
ORPHA:100984 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Waddling gait, Myopathy, Proximal muscle weakness in lower limbs, Gait disturbance, Increased var... |
ORPHA:1878 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... |
ORPHA:329478 |
Congenital Muscular Dystrophy Without Intellectual Disability |
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Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations, Proximal amyotrophy |
OMIM:608030 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... |
OMIM:302801 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... |
ORPHA:101085 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait dist... |
OMIM:615643 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls |
OMIM:616540 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... |
ORPHA:99950 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dys... |
ORPHA:521406 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski sign, Upper limb amyotro... |
ORPHA:496689 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Lower limb pain, Paraparesis, Spastic paraplegia, Upper limb pain, Abnormality of peripheral nerv... |
ORPHA:101005 |
Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Masa Syndrome |
|
Camptodactyly of finger, Hemiplegia/hemiparesis, Spastic paraplegia, Hand clenching, Gait disturb... |
ORPHA:2466 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, L... |
ORPHA:266 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Joint laxity, Scapular winging, Facial palsy, Generalized weakness of limb muscles... |
ORPHA:353327 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Waddling gait, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu varum, Abnormality... |
ORPHA:166002 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Unsteady gait, Flexion ... |
OMIM:608099 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Joint stiffness, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf mus... |
ORPHA:209335 |
Hereditary Geniospasm |
|
Abnormality of mentalis muscle, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Wahab Syndrome |
|
Short palm, Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Camptodactyly, Clin... |
OMIM:615170 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Distal amyotrophy, Myoclonus, In... |
OMIM:614487 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Congenital Myopathy 15 |
|
Waddling gait, Osteopenia, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased ... |
OMIM:620161 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... |
OMIM:612937 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... |
OMIM:613647 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Distal amyotrophy, Spasticit... |
OMIM:617207 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,... |
OMIM:180800 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy... |
OMIM:616287 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia |
OMIM:619099 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Progressive spastic paraparesis, Babinski si... |
ORPHA:444099 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Dystonia |
OMIM:618237 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor |
OMIM:618876 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Waddling gait, Ataxia, Babinski sign, Lower limb amyotrophy, Split hand, Distal sensory impairmen... |
OMIM:617882 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Ataxia, Coxa valga, Rigidity, Abnormal metacarpal morphology, Avascular ... |
ORPHA:559 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Clonus, Impaired pain sensation, S... |
ORPHA:139578 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment,... |
OMIM:616719 |
Congenital Myopathy 16 |
|
Scapular winging, Postural tremor, Flexion contracture, Tongue tremor, EMG: myopathic abnormalities |
OMIM:618524 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly |
OMIM:607539 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Joint stiffness, Proxi... |
ORPHA:598 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, Dy... |
OMIM:619065 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elb... |
ORPHA:75840 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... |
OMIM:608323 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... |
ORPHA:225154 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Delayed skeletal maturation, Hoffmann sign, Impaired distal vibration sensation, Abnormal... |
OMIM:618438 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal a... |
OMIM:611067 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
X-Linked Progressive Cerebellar Ataxia |
|
Distal lower limb amyotrophy, Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysar... |
ORPHA:1175 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... |
ORPHA:306692 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased... |
OMIM:125250 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... |
OMIM:310300 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Flexion contrac... |
ORPHA:2590 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Ataxia |
OMIM:551500 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Inability to walk, Neck joint contracture, Flexion co... |
ORPHA:209951 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... |
OMIM:609284 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Optic atrophy, Slurred speech, Gait ataxia, Flexion contracture of toe |
OMIM:619323 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly |
OMIM:610140 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content, Fasciculations, Difficulty walking |
OMIM:610717 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... |
OMIM:619028 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Vocal cord ... |
OMIM:614895 |
Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... |
ORPHA:98911 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, D... |
OMIM:607596 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly |
OMIM:618453 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Distal lower limb amyotrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Babin... |
OMIM:616680 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Ataxia, Centrally nucleated skeletal muscle fibers, Co... |
OMIM:248800 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par... |
ORPHA:397744 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... |
OMIM:616081 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, ... |
ORPHA:313772 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Fl... |
OMIM:615491 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Optic atrophy, Upper limb amyotrophy, Distal sensory impairment, Talipes equin... |
OMIM:617087 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, D... |
OMIM:609285 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Proximal amyotrophy, Distal sensory impairment, Tetraplegia, Degeneration of anterio... |
OMIM:604484 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Poor motor coordination, Reduced intraabdominal adip... |
ORPHA:363400 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Distal amyotrophy, Hammertoe, Gait disturbance, ... |
OMIM:618400 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Writer's cramp, Peroneal muscle atrophy, Flexion contracture, Impaired vibra... |
ORPHA:324442 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Babinski sign, Impaired vibration sens... |
ORPHA:171863 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper moto... |
OMIM:500001 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ... |
ORPHA:401815 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Impaired temperature sensation, Centrally nucleated skeletal muscle fibe... |
OMIM:619574 |
Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Hypertonia, Hemiplegia/hemiparesis |
ORPHA:2571 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Sensory ataxia, Distal sensor... |
ORPHA:101081 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Gait disturbance, Difficulty ... |
ORPHA:352470 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... |
OMIM:615376 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:605253 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased... |
ORPHA:86812 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Diaphragmatic paralysis, Craniofacial dystonia, Plantar flexion contract... |
OMIM:620011 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Decreased amplitude of sensory action potentials |
OMIM:608673 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal amyotrophy... |
OMIM:610100 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Areflexia of upper limbs, Decreased nerve conduction velocity, Decr... |
ORPHA:90103 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand trem... |
ORPHA:276198 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign,... |
OMIM:500013 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Distal sensory... |
OMIM:612954 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Distal amyotr... |
OMIM:118210 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul... |
ORPHA:3294 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Spasticity, Gait ata... |
ORPHA:466794 |
Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Camptodactyly |
OMIM:217990 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Increased connective tissue, Calf muscle hypertrophy, Sh... |
OMIM:611307 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Inguinal hernia, Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle w... |
OMIM:619903 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Skeletal muscle atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty ... |
ORPHA:330050 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Spasticity, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy, Hypertonia, Optic atrophy, Dystonia |
ORPHA:26792 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Broad-based gait, Flexion contracture of finger, Ataxia, Decreased senso... |
OMIM:609033 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... |
OMIM:618823 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Lower limb muscle weakn... |
ORPHA:306511 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Limitation of joint mobility, Myopathy, Joint hyper... |
ORPHA:157973 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Quadriceps muscle weakness, Elbow flexion contracture, Calf muscle hypertrophy... |
ORPHA:206546 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Diaphragmatic pa... |
OMIM:614399 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Central Core Disease |
|
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Myopathy, Talipes equinova... |
ORPHA:597 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... |
ORPHA:100999 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Leber Optic Atrophy |
|
Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Myopathy, Dystonia |
OMIM:535000 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Brady... |
OMIM:300423 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Recurrent fractures, Babinski sign, Spastic paraplegia, Bone pain,... |
ORPHA:329475 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Optic atrophy, Dysmetr... |
OMIM:210000 |
Baker-Gordon Syndrome |
|
Joint laxity, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic mov... |
OMIM:618218 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Hypomimic face, Bradykinesi... |
OMIM:615528 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... |
ORPHA:98863 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Stepp... |
ORPHA:206594 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Scapular winging, Calf muscle pseudohypertrophy, Frequent falls,... |
ORPHA:353 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral talipes equinova... |
OMIM:617194 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Decreased nerve conduction velocity, Inability to walk, Upper limb m... |
ORPHA:99939 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... |
ORPHA:261 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Lower limb spasticity, Ataxia, Babins... |
OMIM:609195 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... |
ORPHA:98853 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... |
OMIM:253600 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Distal sensory impairment |
OMIM:607677 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Achilles tendon contr... |
OMIM:606612 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Loss of ambulation, Inc... |
OMIM:253601 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, Skeletal mus... |
OMIM:608840 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmet... |
ORPHA:98755 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Foot osteomyelitis, Osteomyel... |
OMIM:162400 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:607731 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Optic disc pallor, Exaggerated startle response, Multiple joint con... |
ORPHA:320406 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Broad-based gait, Babinski sign, Calcaneovalgus deformity, Distal amyotrophy, Arthrogryposis mult... |
OMIM:162370 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Elbow flexion contracture |
OMIM:619470 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Impaired temperature sensation, Diffuse palmoplantar... |
ORPHA:2199 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... |
ORPHA:98856 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy, Dystonia |
OMIM:203740 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Involuntary movements, Increased connective tissue, Tongue fasciculation... |
ORPHA:238329 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ataxia, Action myoclonus |
OMIM:616230 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Elbow flexion contracture, Myoclonus, Knee flexion contracture |
OMIM:619303 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Prolonged somatosensory evoked potentials, Hand tremor, Myoc... |
OMIM:608105 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy... |
OMIM:608340 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, ... |
OMIM:606703 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... |
ORPHA:254361 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abnormal pyramidal sign,... |
ORPHA:309162 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Thenar muscle atrophy, Impaired distal vi... |
OMIM:604360 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Low... |
OMIM:300100 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseu... |
OMIM:105400 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Charcot-Marie-Tooth Disease Type 4G |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased distal sensory... |
ORPHA:99953 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Decreased motor nerve conduction velocity, Distal amyotrophy, Distal sensory impairment |
OMIM:607734 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Myopathy, Hyperkinetic movements, Limb-girdle muscular dystrophy, Difficulty walking, Tru... |
ORPHA:369847 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy, Delayed skeletal maturation, Avascular necrosis |
ORPHA:2380 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Joint st... |
ORPHA:98855 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Joint laxity, Ankle flexion contracture, Centrally nuclea... |
OMIM:617760 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:614257 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Flexion contra... |
OMIM:609541 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Distal amyotrophy, Spastic paraplegia |
OMIM:182815 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Optic atrophy, Dysmetria, Dis... |
OMIM:616505 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Limb joint contracture, Involuntary movements, Rigidity, Chorea, Babin... |
OMIM:617282 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Poliomyelitis |
|
Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Paralysis, Abnormal motor ner... |
ORPHA:2912 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis |
OMIM:616286 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Babinski sign, Optic atrophy, Le... |
OMIM:252011 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Increased connective tissue, Macroglossia, Calf muscle hypertrophy, Musc... |
OMIM:616827 |
Spastic Paraplegia 16, X-Linked |
|
Lower limb spasticity, Facial hypotonia, Lower limb muscle weakness, Babinski sign, Spastic parap... |
OMIM:300266 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity |
OMIM:617829 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Delayed skeletal maturation |
ORPHA:50817 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
Allan-Herndon-Dudley Syndrome |
|
Hallux valgus, Ataxia, Clonus, Inability to walk, Flexion contracture, Babinski sign, Spastic tet... |
OMIM:300523 |
Spinocerebellar Ataxia 13 |
|
Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, Limb ataxia, Gait at... |
OMIM:605259 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Babinski sign, Optic at... |
OMIM:612674 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Facial palsy, Frequent falls, Rigidity, Limb muscle weakness, Hypertonia, Type 1 m... |
OMIM:161800 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Dysesthesia, Rigidity, Unsteady gait, Babinski sign, Limb ... |
OMIM:614877 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic para... |
OMIM:616586 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy |
ORPHA:1216 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Torticolli... |
OMIM:181405 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Babin... |
ORPHA:320375 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Accelerated skeletal maturation, Tremor, Limb dystonia, Bilateral coxa valga |
OMIM:620270 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... |
ORPHA:466768 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Ataxia, Rigidity, Gait disturbance, Dystonia |
OMIM:618239 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy |
OMIM:255600 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Sensory at... |
OMIM:618184 |
Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Tongue fasciculations, Proximal... |
OMIM:253300 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Spasticity, Knee flexion co... |
ORPHA:3208 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... |
OMIM:612016 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Opt... |
ORPHA:1215 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Fasciculations, Distal sensory impairment |
ORPHA:84142 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Diaphragmatic paralysis |
ORPHA:868 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... |
OMIM:608804 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... |
ORPHA:391417 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations |
OMIM:619141 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... |
ORPHA:272 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Single transverse palmar crease,... |
OMIM:611890 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function... |
ORPHA:352596 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Spasticity, Amyotrophic lateral sclerosis, Tetraparesis |
OMIM:617892 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Brachydactyly, Adducted thumb, Camptodactyly |
ORPHA:444051 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Decreased hip abduction, Single transverse palmar cr... |
OMIM:108120 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Rocker bottom foot, Camptodactyly |
OMIM:618393 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait distu... |
ORPHA:101006 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Ataxia |
ORPHA:33574 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Skeletal muscle atrophy, Myopathy, Atrophic scars, Hernia, Joint hypermobility |
ORPHA:300179 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber... |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Thenar muscle atrophy, Distal sensory impairment, Distal amyotrophy, Steppage gait, Hammertoe, Di... |
OMIM:606483 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Ataxia, Ankle flexion contracture, Tremor, Small hand, Upper limb undergrowth, Optic ... |
OMIM:608799 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unsteady gait, Limb tremor,... |
ORPHA:420492 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Delayed skeletal maturation, Ragged-red ... |
ORPHA:480 |
Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp, Myoclonus |
OMIM:607488 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Myoclonus, Dysmetria |
OMIM:618251 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal tibia morphology, Abnormal pyramidal sign, Abnormal femur morphology, Abnorm... |
ORPHA:909 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand trem... |
ORPHA:100996 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi... |
OMIM:617468 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... |
ORPHA:13 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Joint hyperflexibility |
ORPHA:1188 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Clinodactyly, Poor coordination, Split hand, Clumsiness, Congenital fi... |
OMIM:157900 |
Hypophosphatasia, Childhood |
|
Waddling gait, Myopathy, Craniosynostosis, Bowing of the legs |
OMIM:241510 |
Multifocal Motor Neuropathy |
|
Limited wrist extension, Weakness of long finger extensor muscles, Motor conduction block, Fascic... |
ORPHA:641 |
Martsolf Syndrome 2 |
|
Spastic diplegia, Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Brody Disease |
|
Skeletal muscle hypertrophy, Somatic sensory dysfunction, Flexion contracture, Fasciculations |
OMIM:601003 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hiatus hernia, Delayed skele... |
OMIM:601162 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal si... |
ORPHA:98 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... |
ORPHA:506353 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short palm, Broad-based gait, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dys... |
OMIM:610185 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
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Lower limb spasticity, Somatic sensory dysfunction, Abnormal pyramidal sign, Optic atrophy, Progr... |
ORPHA:1177 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Unsteady gait, Slurred speech... |
ORPHA:93952 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance, Umbilical hernia |
ORPHA:2349 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Broad-based gait, Decreased sensory nerve conduction v... |
OMIM:145900 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty w... |
ORPHA:369840 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Arthrogryposis, Distal, Type 2B3 |
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Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlapping finge... |
OMIM:618436 |
Spinocerebellar Ataxia 19 |
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Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Progressive truncal ataxia, Spastic ataxia, Swan neck-like deformities of the fingers, Decreased ... |
OMIM:270550 |
Spinocerebellar Ataxia Type 18 |
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Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tr... |
ORPHA:98771 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Slurred speech, Limb ataxia, Dysmetria, Leg muscle stiffness, Progressive cerebellar ataxia, Prog... |
ORPHA:284289 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Tremor, Myoclonus, Abnormal aut... |
ORPHA:97229 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Impaired vibratory sensation, Decreased motor nerve conduction velocity, Ataxia, Impaired distal ... |
OMIM:607250 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
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Myopathy, Shoulder girdle muscle weakness, Falls, Gait disturbance, Generalized amyotrophy, Pelvi... |
OMIM:615156 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Unsteady gait, Ragged-red muscle fiber... |
OMIM:616479 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial d... |
ORPHA:171433 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Ataxia |
OMIM:618637 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Flexion contracture, Optic atrophy, Myoclonus, Spasticity |
OMIM:256730 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ... |
OMIM:607136 |
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 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation |
OMIM:256731 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... |
OMIM:164400 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Syndactyly, Decreased nerve conduction velocity, Distal sensory impairme... |
OMIM:615284 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Distal amyotrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment |
ORPHA:639 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Optic atrophy, Hemiparesis... |
ORPHA:98673 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Impai... |
ORPHA:88628 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Tremor, Inability to walk, ... |
OMIM:617013 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Overlapping toe, Spastic tetraparesi... |
OMIM:618598 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... |
ORPHA:139485 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Distal lower limb amyotrophy, Babinski sign, Spastic paraplegia, Ab... |
ORPHA:459056 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Abnormal toe morphology... |
ORPHA:459033 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Perching Syndrome |
|
Joint contracture, Camptodactyly |
OMIM:617055 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia |
OMIM:615338 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Difficulty walking, Dystonia |
OMIM:616684 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... |
ORPHA:329284 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Inability to walk, Paraparesis, Generalized limb m... |
ORPHA:2822 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreo... |
OMIM:619653 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Small hand, Tremor |
OMIM:616269 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Hypertonia, An... |
OMIM:154276 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten... |
OMIM:215470 |
O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper l... |
ORPHA:99965 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Campto... |
OMIM:609128 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac... |
ORPHA:521411 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Myopathy, Calf muscle hypertrophy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations |
OMIM:313200 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasti... |
OMIM:614254 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve... |
ORPHA:52430 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Optic atrophy, Talipes ... |
OMIM:617481 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Distal amyotrophy, Falls, Tongue fasciculations, Weakness of facial ... |
OMIM:618811 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
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 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... |
OMIM:614153 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Abnormal autonomic nervous system ph... |
ORPHA:363722 |
Fried Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Spastic diplegia |
ORPHA:85335 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Inguinal hernia, Dermatoglyphic ridges abnormal, Small thenar eminence... |
OMIM:211960 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi... |
ORPHA:401866 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Distal amyotrophy, Gait disturbance, Distal lower limb muscle weakness, Pr... |
OMIM:612020 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Skeletal muscle atrophy, Dystonia, Babinski sign, Abnormal pyramidal sign, Progressive cerebellar... |
ORPHA:513436 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Multiple joint contractures, Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ... |
ORPHA:504476 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Dystonia |
OMIM:618244 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter |
OMIM:617235 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Knee flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, Oculomotor a... |
OMIM:618198 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Broad-based gait, Arachnodactyly, Sandal gap, Inability to walk, Flexion contracture, Sensory ata... |
OMIM:617146 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Dystonia |
OMIM:614932 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... |
OMIM:613205 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Ataxia, Inability to walk, Clinodactyly, Babinski sign, Macroglossia, Talipes equinovarus, Apraxi... |
OMIM:616354 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Facial hypotonia, Parkinsonism, Tremor, Flexion contracture, Ba... |
OMIM:300055 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat... |
OMIM:117000 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Dupuytren contracture, Parkinsonism, Spastic... |
ORPHA:100991 |
Muscle-Eye-Brain Disease |
|
Hemiplegia/hemiparesis, Optic atrophy, Myopathy, Hypertonia, Gait disturbance |
ORPHA:588 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Truncal titubation, Babins... |
OMIM:610532 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Split hand, Optic atrophy, Clumsiness, Generalized amyotrophy, Tongue fasci... |
OMIM:614707 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:201550 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... |
ORPHA:399096 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Wieacker-Wolff Syndrome |
|
Dystonia, Facial palsy, Proximal placement of thumb, Hip dislocation, Congenital foot contracture... |
OMIM:314580 |
Schindler Disease, Type I |
|
Osteopenia, Optic atrophy, Generalized amyotrophy, Myoclonus, Spasticity |
OMIM:609241 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Impaired vibratory sensation, Lower limb spasticity, Babinski sign, Lower limb amyotrophy, Spasti... |
ORPHA:100986 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Keipert Syndrome |
|
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... |
OMIM:301026 |
Pontocerebellar Hypoplasia Type 4 |
|
Arthrogryposis multiplex congenita, Hypertonia, Myoclonus |
ORPHA:166063 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Myopathy, Rhabdomyolysis, Ataxia |
ORPHA:713 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy, Osteoporosis |
ORPHA:408 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Skeletal muscle hypertrop... |
OMIM:602124 |
L1 Syndrome |
|
Skeletal muscle atrophy, Aganglionic megacolon, Hemiplegia/hemiparesis, Gait disturbance, Spastic... |
ORPHA:275543 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Hip dislocation, I... |
ORPHA:171436 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity |
OMIM:617493 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Joint laxity, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, ... |
OMIM:255320 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Paraparesis, Fractures of the long bones, Bone pain, Osteo... |
OMIM:602080 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Hemiparesis |
OMIM:540000 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski si... |
ORPHA:88644 |
Nathalie Syndrome |
|
Skeletal muscle atrophy |
OMIM:255990 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ab... |
ORPHA:2926 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... |
OMIM:208920 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Impaired p... |
ORPHA:352641 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia |
ORPHA:1368 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Siddiqi Syndrome |
|
Flexion contracture, Lower limb amyotrophy, Limb dystonia |
OMIM:618635 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Upper limb muscle weakness,... |
OMIM:605588 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy |
ORPHA:99944 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia, Hemiatrophy |
ORPHA:306669 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop... |
OMIM:604563 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... |
OMIM:609560 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Hand muscle weakness, Lower limb amyotrophy, Spastic gait, Progressive spa... |
ORPHA:320355 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... |
ORPHA:289560 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, O... |
ORPHA:496756 |
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 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
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Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t... |
ORPHA:457205 |
Developmental And Epileptic Encephalopathy 40 |
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Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop... |
OMIM:118220 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... |
ORPHA:464282 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Slurred speech, Flared iliac wing, Dystonia, Hypoplastic acetabulae |
OMIM:230650 |
Autosomal Dominant Spastic Paraplegia Type 12 |
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Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Im... |
ORPHA:100993 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Facioscapulohumeral Muscular Dystrophy 1 |
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Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
Thyrocerebrorenal Syndrome |
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Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Abnormality of the musculature of th... |
ORPHA:3327 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Foot osteomyelitis, Clonus, Spa... |
OMIM:256840 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
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Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... |
OMIM:157640 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Tongue fasci... |
ORPHA:2254 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tapered finger, Tremor, Inabi... |
OMIM:218000 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Palmoplantar keratoderma, Lipoatrophy |
ORPHA:154 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Frequent falls |
OMIM:301020 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Clumsiness, Athetosis, Distal amyotr... |
OMIM:271245 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Optic atrophy, Ataxia |
OMIM:300983 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:619317 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... |
OMIM:601455 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ... |
ORPHA:206559 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Spasticity, Babinski sign, Amyotrophic lateral sclerosis |
OMIM:612069 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Farber Disease |
|
Skeletal muscle atrophy, Abnormality of the hand, Abnormality of the wrist, Paraparesis, Short to... |
ORPHA:333 |
Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Elbow flexion contracture, Ulnar deviation of fing... |
OMIM:277720 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Ataxia, Tremor, Flexion contracture, Osteoporosis, Umbi... |
ORPHA:87876 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Rocker bottom foot, Elbow... |
OMIM:619110 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Myopathy, Difficulty walking, Weakness of facia... |
ORPHA:254875 |
Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Interosseus muscle atrophy, Fasciculations |
OMIM:602440 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Increased adipose tissue, Proximal amyotrophy, Tip-toe gait, Gait disturbance |
OMIM:617404 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Ataxia, Myoclonus, Adducted thumb |
OMIM:612015 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis, Facial diplegi... |
OMIM:617302 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ... |
OMIM:619092 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ... |
OMIM:616516 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy |
OMIM:601287 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity |
OMIM:618201 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity |
ORPHA:33445 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Clinodactyly of th... |
ORPHA:3454 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Shu... |
ORPHA:171695 |
Ataxia-Telangiectasia-Like Disorder |
|
Joint laxity, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oc... |
ORPHA:251347 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Hypertonia, Myoclonus, Spasticity |
OMIM:225753 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... |
OMIM:238970 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Ataxia |
OMIM:300653 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Limited e... |
OMIM:300280 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia, Dystonia |
OMIM:105300 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop... |
OMIM:118200 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Paresthesia, Generalized amyotrop... |
ORPHA:79279 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, Ankle clonus, Bradykinesia, Short foo... |
OMIM:617435 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, Hyperkinetic movement... |
OMIM:620089 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Fa... |
ORPHA:276244 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Hyporeflexia of upper limbs, Myoclonus |
OMIM:609056 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson... |
OMIM:614298 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Orthostatic hypotension, Dysesthesia, ... |
ORPHA:139417 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Facial palsy, Tapered finger, Elbow flexion contracture, Opisthotonus, Talipes equinovarus, Radia... |
OMIM:272430 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy |
OMIM:607791 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Optic atrophy |
OMIM:618236 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... |
ORPHA:276241 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Steppage gait, Limb muscle weakness |
OMIM:620378 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Flexion contracture, Arthrogryposis multiplex congenita, Clinoda... |
ORPHA:178148 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Foxg1 Syndrome |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walking, Dyston... |
ORPHA:561854 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Knee flexion contracture, Camptodactyly, Cubitus valgus, Spasticity |
OMIM:619694 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Acroparesthesia, Dysesthesia, Gait ataxia, Paresthesia, Abnormality of extrapyramidal motor funct... |
ORPHA:356 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexio... |
OMIM:255200 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death |
OMIM:301021 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction velocity, Babinski si... |
OMIM:618356 |
Arachnoid Cyst |
|
Facial palsy, Inability to walk, Paraparesis, Cranial nerve compression, Slurred speech, Distal s... |
ORPHA:2356 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis... |
OMIM:617710 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Speech apraxia, Abnormality of the hand, A... |
ORPHA:101000 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr... |
ORPHA:466722 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Ataxia, Flexion contracture, Abnormal pyramidal sign, Babinski sign, Spa... |
ORPHA:59 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ... |
OMIM:619040 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue |
OMIM:602541 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Tremor, EMG: myopathic abnormalities, Overlapping toe, Delayed skeletal maturation |
ORPHA:457365 |
Asbestos Intoxication |
|
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... |
ORPHA:2302 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... |
ORPHA:98889 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ata... |
OMIM:617695 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized... |
OMIM:605013 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Ataxia, Inability to walk, Abnormal pyramidal sign, Optic atrophy, Dista... |
ORPHA:254930 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Decreased muscle ma... |
ORPHA:3041 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... |
ORPHA:845 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Ataxia, Osteoporosis, Spastic tetraplegia, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoclonus, Loss of ambul... |
OMIM:618241 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m... |
ORPHA:1159 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra... |
ORPHA:70588 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Gait imbalance, Loss of ambulation, Weakness of... |
ORPHA:329336 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst... |
OMIM:300894 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Limited shoulder movement, Knee flexion contracture, Ca... |
OMIM:184900 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... |
OMIM:234200 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... |
ORPHA:247234 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Generalized joint laxity, Delayed skeleta... |
ORPHA:502423 |
Hereditary Hyperekplexia |
|
Ataxia, Hiatus hernia, Rigidity, Joint stiffness, Hip dislocation, Hypertonia, Gait disturbance, ... |
ORPHA:3197 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Arachnodactyly, Inability to walk, Babinski sign, Hyperkinetic movements... |
OMIM:616420 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertonia, Opisthotonus |
OMIM:616896 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Weakness of facial mu... |
OMIM:616239 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Ataxia, Gait ataxia |
OMIM:613077 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Patchy o... |
OMIM:112250 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Distal amyo... |
OMIM:270700 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Athetosis... |
OMIM:612073 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hypomimic face, Dystonia, Limb... |
ORPHA:70594 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... |
ORPHA:98768 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Generalized limb muscle atrophy, Gait a... |
ORPHA:139480 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers,... |
OMIM:254090 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscl... |
ORPHA:486815 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Distal amyotrop... |
OMIM:607831 |
Catifa Syndrome |
|
Inguinal hernia, Gait disturbance, Camptodactyly |
OMIM:618761 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... |
OMIM:616795 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy |
ORPHA:42 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involv... |
ORPHA:88630 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
Prune1-Related Neurological Syndrome |
|
Clonus, Spastic tetraparesis, Inability to walk, Optic atrophy, Bilateral talipes equinovarus, To... |
ORPHA:544469 |
Rahman Syndrome |
|
Hypertonia, Accelerated skeletal maturation, Talipes equinovarus, Camptodactyly |
OMIM:617537 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... |
OMIM:610978 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Distal amyotrophy, Joint hypermobility, Distal sensory impai... |
OMIM:608895 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
Richards-Rundle Syndrome |
|
Ataxia, Joint stiffness, Reduced bone mineral density, Distal amyotrophy, Hypertonia, Gait distur... |
ORPHA:1399 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis, Joint contracture, Lower l... |
OMIM:260600 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Gait ataxia, Myoclonus, Left ventricular hypertrophy, Crouch gait |
OMIM:620145 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lipodystrophy, Myopathy, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
Glycogen Storage Disease Iii |
|
Myopathy, Distal amyotrophy |
OMIM:232400 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait disturbance, Myoclonu... |
ORPHA:508093 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Unsteady gait, Myoclonus |
OMIM:610090 |
Madras Motor Neuron Disease |
|
Facial palsy, Babinski sign, Optic atrophy, Limb fasciculations, Distal amyotrophy |
ORPHA:137867 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Inability to walk, Flexion contracture, Small hand, Narrow pa... |
OMIM:615547 |
Imagawa-Matsumoto Syndrome |
|
Accelerated skeletal maturation, Large hands, Camptodactyly, Umbilical hernia, Clinodactyly |
OMIM:618786 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Skeletal muscle atrophy, Broad-based gait, Short humerus, Swan neck-like deformities of the finge... |
OMIM:616716 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Decreased compound... |
OMIM:602433 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... |
OMIM:255125 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Speech apraxia, Lower limb spasticity, Postural tremor, Arachnodactyly, Rigidity, Oculomotor apra... |
ORPHA:412057 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations, Oculomotor ... |
OMIM:614678 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Pathologic fracture |
OMIM:618193 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Cutaneous angiolipomas, Bone pain |
ORPHA:53721 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy |
ORPHA:91130 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Incoordination, Ataxia, Abnormality of the hand, Arthrogryposis-like hand anomaly, Ma... |
ORPHA:369891 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Abnormal mit... |
ORPHA:644 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Skeletal muscle atrophy, Ataxia, Loss of ability to walk in first decade, Flexion contracture, Hy... |
OMIM:300243 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Loss of amb... |
OMIM:204200 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Pontocerebellar Hypoplasia, Type 1D |
|
Multiple joint contractures, Flexion contracture, Generalized amyotrophy, Tongue fasciculations, ... |
OMIM:618065 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Abnormal pyramidal sign, Left ... |
OMIM:618228 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Intrinsic hand muscle atrophy, Increased susceptibility to fractures, Dystonia, Spasticity |
OMIM:304700 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Tremor, Hyperkinetic movements, Gait disturbance, Spasticity, Hip subluxation |
OMIM:300957 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... |
ORPHA:324581 |
Neurofibromatosis, Familial Spinal |
|
Paraparesis, Lower limb muscle weakness |
OMIM:162210 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Proximal amyotrophy, Gait ataxia,... |
ORPHA:95433 |
Mcleod Syndrome |
|
Areflexia of upper limbs, Chorea, Rhabdomyolysis, Myopathy, Dystonia, Impaired vibration sensatio... |
OMIM:300842 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis ante... |
ORPHA:98905 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Inability to walk, Distal sens... |
ORPHA:36386 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Skeletal muscle hypertrophy |
ORPHA:101082 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Acquired Partial Lipodystrophy |
|
Myopathy, Lipoatrophy |
ORPHA:79087 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia |
OMIM:620358 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy, Dysmetria |
OMIM:615578 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Postaxial hand polydactyly, Pectoral muscle hypopl... |
OMIM:136760 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusion, Acetabular dysplasia, Nemaline bo... |
OMIM:616549 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Postural tremor, Babinski sign, Tetraplegia, Tip-toe gait, Spasticity, S... |
ORPHA:447760 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Optic atrophy, Progressive cerebellar ataxia, Chin myoclonus, Myoclon... |
ORPHA:263516 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Parkinsonism, Difficulty walking, Spastic paraparesis |
ORPHA:397725 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... |
OMIM:277590 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... |
ORPHA:254892 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Ataxia, Arachnodactyly, Flexion contracture, Calcaneovalgus deformity, Adducted thumb, Hypertonia... |
ORPHA:562528 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements |
OMIM:618374 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Arthrogryposis multiplex congenita, Overlapp... |
OMIM:614262 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... |
ORPHA:99027 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Joint contracture of t... |
OMIM:164200 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Weakness of facial musculature |
OMIM:201470 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Parkins... |
OMIM:200150 |
Harel-Yoon Syndrome |
|
Ataxia, Inability to walk, Optic atrophy, Distal amyotrophy, Hip dysplasia, Dystonia, Spasticity |
OMIM:617183 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Tongue fasciculations, Akinesia |
OMIM:618822 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Tapered finger, Inability to walk, Clinodactyly, Optic atrophy, Dysmetria, Camptodactyly,... |
OMIM:619576 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Metaphyseal widening, Babinski sign, Flexion ... |
OMIM:300232 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limit... |
OMIM:121050 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Inguinal hernia, Dystonia, Rocker bottom foot, Akinesia, Flexion contracture, ... |
OMIM:618947 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Parenchym... |
ORPHA:2902 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Gait disturbance, Myopathy |
ORPHA:85329 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Bone pain, Myoclonus, Erlenmeyer flask deformity of the femurs, Intention tremor |
OMIM:610539 |
Chanarin-Dorfman Syndrome |
|
Myopathy, Ataxia |
OMIM:275630 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Limited wrist extension, ... |
ORPHA:98915 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Metatarsus adductus, Limitation of joint mobility, Small hand, Genu valgum, Short... |
ORPHA:289522 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Ataxia, Unsteady gait, Impaired distal vibration sensation, Limb at... |
OMIM:614871 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Osteoporosis |
OMIM:618234 |
Dpm1-Cdg |
|
Ataxia, Sandal gap, Optic atrophy, Knee flexion contracture, Muscular dystrophy, Camptodactyly, L... |
ORPHA:79322 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Abnormal pyramidal sign, Spas... |
OMIM:615419 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Impaired distal vibration se... |
OMIM:606002 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Dystonia, Joint contracture |
OMIM:617664 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... |
ORPHA:99956 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul... |
OMIM:607694 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Decreased nerve conduction velocity, Delayed skeletal ma... |
ORPHA:812 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures, Joint stiffness, Osteolysis, Abnormal ... |
ORPHA:2028 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:620094 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Tremor, Osteoporosis, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Ocul... |
ORPHA:529665 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Huntington Disease |
|
Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clum... |
ORPHA:399 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Flexion contracture, Elbow flexion contracture, Osteoporosis, Kne... |
OMIM:214150 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Single transverse palmar crease, Tremor, Hip dysplasia, Hyperkinetic movements, Upper limb spasti... |
ORPHA:457240 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... |
OMIM:604320 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Delayed skeletal maturation, Limb ataxia, Dysmetria, Distal se... |
OMIM:617675 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spasticity |
ORPHA:100 |
Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Inguinal hernia, Shoulder flexion contracture, Re... |
OMIM:193700 |
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 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Tremor, Unsteady gait, Myopathy, Dystonia, Spasticity |
OMIM:615512 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Clinodactyly of the 5th finger |
OMIM:619422 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Facial palsy, Spastic paraplegia, Abnormal pyramidal sign, Distal sensory impairment, Distal amyo... |
OMIM:256850 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hypertonia, Flexion contracture, Rocker bottom foot, Camptodactyly |
OMIM:604273 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
4H Leukodystrophy |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Abnormalit... |
ORPHA:289494 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Camptodactyly |
OMIM:619751 |
Peho-Like Syndrome |
|
Optic atrophy, Myoclonus, Tapered finger |
OMIM:617507 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Rhizomelia, Tremor, Brachioradialis areflexia, Flexion contracture, Opisthotonus, Choreoa... |
OMIM:616271 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Atelectasis, Death in infancy |
OMIM:300219 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia |
OMIM:618247 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Gait disturbance, Myoclonus, Abnormality of extrapyramidal m... |
OMIM:607822 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Calf mu... |
OMIM:615673 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Abnormal autonomic n... |
OMIM:614498 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death |
OMIM:300076 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy |
ORPHA:98896 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Hemiparesis, Hypertonia, L... |
OMIM:619737 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hi... |
OMIM:615356 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Tremor, Dystonia |
OMIM:615010 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Inguinal hernia, Arachnodactyly, Facial hypotonia, Atrophic scars, Bilateral talipe... |
OMIM:615539 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Broad-based gait, Ataxia, Clinodactyly, Babinski sign, Macroglossia, Talipes equinovarus, Apraxia... |
ORPHA:397709 |
Lissencephaly 8 |
|
Appendicular spasticity, Skeletal muscle atrophy, Optic atrophy, Talipes equinovarus |
OMIM:617255 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Accelerated skeletal mat... |
OMIM:175700 |
Peroxisome Biogenesis Disorder 5B |
|
Joint laxity, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Limitation of joint mobility, Hip dislocation, Slender long bone, Gait d... |
ORPHA:2840 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Microcephaly, Amish Type |
|
Flexion contracture, Optic atrophy, Myoclonus, Limb hypertonia |
OMIM:607196 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Frequent falls, Impaired pain sensation, Inability to ... |
ORPHA:99949 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Limited knee extensio... |
ORPHA:36387 |
Recombinant Chromosome 8 Syndrome |
|
Hypertonia, Joint contracture of the hand, Clinodactyly of the 5th finger, Camptodactyly |
OMIM:179613 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Spastic tetraparesis, Craniosynostosis, Knee f... |
ORPHA:284417 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Quadriceps m... |
OMIM:255800 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ... |
ORPHA:280210 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin... |
OMIM:211530 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb... |
OMIM:603516 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia |
OMIM:250620 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Ulnar deviation of the hand, Limb j... |
OMIM:612079 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Inguinal hernia, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion co... |
OMIM:616266 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Single transverse palmar crease, Spastic paraplegia, Optic atrop... |
OMIM:614969 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy |
ORPHA:352447 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Exaggerated startle response, Orthostatic hypotension, Ataxia, Impaired ... |
OMIM:268800 |
Glycogen Storage Disease X |
|
Myopathy, Rhabdomyolysis |
OMIM:261670 |
Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612126 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor ... |
OMIM:619527 |
Basilicata-Akhtar Syndrome |
|
Single transverse palmar crease, Short foot, Progressive spasticity, Short palm, Camptodactyly, A... |
OMIM:301032 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Vocal cord paresis, Optic disc pallor, Optic atrophy, ... |
OMIM:601152 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Sa... |
OMIM:201000 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Spasticity, Campto... |
ORPHA:2804 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy |
OMIM:617184 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperkinetic movements, Ataxia |
OMIM:271980 |
Sneddon Syndrome |
|
Facial palsy, Tremor, Atrophic scars, Impaired distal tactile sensation, Hemiplegia |
OMIM:182410 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Proximal limb muscle stiffness, Myoclonic s... |
OMIM:184850 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Joint laxity, Sandal gap, Tremor, Small hand, Gait ataxia, Short fo... |
OMIM:300354 |
Xp21 Deletion Syndrome |
|
Joint laxity, Decreased muscle mass, Osteoporosis, Reduced bone mineral density, Finger clinodact... |
ORPHA:261476 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Limited knee flexion, ... |
OMIM:615065 |
Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Ataxia, Optic atrophy, Macroglossia, Talipes equinovarus,... |
ORPHA:79325 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia |
OMIM:600795 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Inability to walk by childhood/adolescence, Distal sen... |
OMIM:214400 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Multiple prenatal fractures, Flexion contractur... |
OMIM:616867 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Distal joint laxity... |
OMIM:617258 |
Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Paraparesis, Abnormality of cervical plexus, Abnormality of the brac... |
ORPHA:449427 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovaru... |
OMIM:614815 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Trisomy X |
|
Tremor, Joint hyperflexibility, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:3375 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy, Rocker bottom foot, Joint hyperflexibility |
ORPHA:85283 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Tibial torsion, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fin... |
ORPHA:33069 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Chorea, Opti... |
ORPHA:506 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... |
ORPHA:391428 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Camptodactyly |
OMIM:246560 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Small hand, Spastic diplegia, Talipes equinovarus, Camptodactyly, Enamel hypoplasia |
OMIM:619980 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Sjogren-Larsson Syndrome |
|
Spasticity, Flexion contracture, Enamel hypoplasia, Spastic paraparesis |
OMIM:270200 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormality of the hand, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Abnormal upper moto... |
OMIM:221770 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... |
OMIM:146500 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:620265 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Enlargement of the wrists, Babinski sign, Spastic paraplegi... |
ORPHA:83629 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Delayed skeletal maturation, Short distal phalanx of finger, Ulnar devia... |
ORPHA:2013 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ... |
ORPHA:171881 |
Adenylosuccinase Deficiency |
|
Skeletal muscle atrophy, Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spa... |
OMIM:103050 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... |
ORPHA:765 |
Cystathioninuria |
|
Tremor, Talipes equinovarus |
ORPHA:212 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot... |
OMIM:271225 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly |
OMIM:264180 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat... |
ORPHA:2388 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... |
ORPHA:1020 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Hip dislocation, Dysmetria, Gait ataxia, Optic atrophy, ... |
OMIM:614381 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Myoclonus, Morning myoclonic jerks, Truncal ataxia |
OMIM:607682 |
Camurati-Engelmann Disease, Type 2 |
|
Waddling gait, Skeletal muscle atrophy, Osteopenia, Hip contracture, Knee flexion contracture, Lo... |
OMIM:606631 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Postaxial polydactyly, Tremor, Poor coordination, Gait disturbance, Abnormality of pain s... |
ORPHA:544254 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Gait disturbance, Hyperkinetic movements |
OMIM:236270 |
Hemimegalencephaly |
|
Hemiparesis, Optic atrophy, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Distal sensory impairment, Facial diplegia, Facia... |
OMIM:613559 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... |
ORPHA:367 |
Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Bone pain, Upper limb a... |
ORPHA:2485 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death |
OMIM:615228 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Inability to walk, Quadriceps muscle weakne... |
ORPHA:70 |
Rett Syndrome |
|
Skeletal muscle atrophy, Gait apraxia, Truncal ataxia, Gait ataxia, Short foot, Dystonia, Spasticity |
OMIM:312750 |
Lennox-Gastaut Syndrome |
|
Falls, Myoclonus |
ORPHA:2382 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Coxa vara, Hypertonia, Wrist flexion contracture, Increased ... |
ORPHA:800 |
Sengers Syndrome |
|
Osteopenia, Myopathy |
OMIM:212350 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Optic atrophy, Myoclonus |
OMIM:619057 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Myoclonus, Opisthotonus |
OMIM:619814 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Limb hypertonia |
OMIM:617162 |
Congenital Myopathy 19 |
|
Facial hypotonia, Skeletal muscle atrophy, Congenital contracture, Gait disturbance |
OMIM:618578 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli... |
OMIM:618056 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Congenital Myopathy 12 |
|
Arachnodactyly, Akinesia, Jaw contracture, Camptodactyly, Overlapping fingers, Joint contracture ... |
OMIM:612540 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic tetraplegia, Spastic paraparesis |
OMIM:618721 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death |
OMIM:619602 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Overlapping toe, Hand clenching, Cutaneous syndactyly, Talipes equinovarus, ... |
OMIM:617822 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Gait disturbance, E... |
OMIM:609286 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
Cystinosis |
|
Myopathy, Gait disturbance, Abnormal pyramidal sign, Rickets |
ORPHA:213 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia |
OMIM:312170 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Calcaneovalgus deformity, Optic atrophy, Contract... |
ORPHA:3078 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Elbow flexion contracture, Spastic tetraplegia, Small hand, Knee... |
ORPHA:371364 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death |
OMIM:612138 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait |
ORPHA:3077 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ... |
ORPHA:171430 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Ataxia, Arachnodactyly, Broad hallux, Inability to walk, Flexion contrac... |
ORPHA:481152 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly |
OMIM:613604 |
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 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Congenita... |
ORPHA:456312 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 3rd toe, Delayed skeletal maturation, Short 2nd toe, Short 5th finger, Myoclonus, Short 4th... |
OMIM:619060 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Congenital diaphragmatic hernia, Tremor, Spasticity, Broad thumb, Brachydactyly |
OMIM:300978 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Dysesthesia, Progressive spastic parap... |
ORPHA:79093 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:614096 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Limitation of joint mobility |
ORPHA:1192 |
Idiopathic Camptocormia |
|
Myositis, Amyotrophic lateral sclerosis, Parkinsonism, Fatty replacement of skeletal muscle, Oste... |
ORPHA:1320 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Inguinal hernia, Slurred speech, Dysmetria, Epiphyseal stippling, Myoclonus |
OMIM:256550 |
Developmental And Epileptic Encephalopathy 51 |
|
Skeletal muscle atrophy, Inability to walk, Babinski sign, Abnormal pyramidal sign, Dystonia |
OMIM:617339 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy |
OMIM:242500 |
Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology, Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Optic atrophy |
ORPHA:477814 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, Single transver... |
OMIM:618291 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia |
ORPHA:1933 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:3239 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb dystonia |
OMIM:604377 |
Pontocerebellar Hypoplasia, Type 2E |
|
Flexion contracture, Osteoporosis, Spastic tetraplegia, Optic atrophy, Opisthotonus, Hypertonia, ... |
OMIM:615851 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Hypertonia, Ataxia |
ORPHA:31 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Tongue fasciculations, Myoclonus |
OMIM:614922 |
Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnorma... |
ORPHA:778 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Delayed s... |
ORPHA:404454 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Inguinal hernia, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upp... |
ORPHA:485350 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Lower limb spasticity, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, Flexion contracture,... |
OMIM:620029 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Impaired pain sensation, Hip dysplasia, Camptodactyly, Hemihypot... |
ORPHA:412035 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Stiff neck, Tremor, Opisthoto... |
ORPHA:79139 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involuntary movements, Babinski sign, Optic... |
ORPHA:480864 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Knee flexion contracture, Femoral bowing, Tibial bowing, Short t... |
OMIM:601559 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... |
OMIM:305620 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyotrophy,... |
ORPHA:254854 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Joint stiffness, Tremor, Inability to walk, Optic atro... |
OMIM:617988 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,... |
ORPHA:139396 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Rigidity, Inability to walk, Osteoporosis, Athetosis, Spasticity |
OMIM:257200 |
Axial Osteomalacia |
|
Myopathy, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c... |
OMIM:265000 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of... |
ORPHA:1358 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short humerus, Short femur, Unsteady gait, Flexion contracture, Ragged-r... |
ORPHA:17 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Progressive spastic paraparesis, Optic atrophy, Progressive spastic quadrip... |
ORPHA:329308 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Myopathy, Shoulder girdle muscle weakness, Difficulty walking, Increased intramyocellular... |
ORPHA:98907 |
Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Spastic gait, Progressive spastic paraplegia |
ORPHA:2821 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Congenital hip dislocation, Ataxia, Fractures of the long bones, Optic a... |
ORPHA:496641 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Decreased hip abduction, Camptodactyly of fing... |
OMIM:114300 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Unsteady gait, Distal sensory impairment |
OMIM:300614 |
Flynn-Aird Syndrome |
|
Joint stiffness, Skeletal muscle atrophy, Ataxia, Impaired pain sensation |
ORPHA:2047 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Limitation of joint... |
OMIM:224400 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Inguinal hernia, Elbow contracture, Craniosynostosis, Tarsal s... |
OMIM:178110 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Abnormality of skeletal... |
ORPHA:2348 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... |
OMIM:168600 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Inguinal hernia, Omphalocele, Overlapping toe, Diastasis recti, Single tr... |
ORPHA:254528 |
Dystonia-Aphonia Syndrome |
|
Generalized dystonia, Unsteady gait, Macroglossia, Gait disturbance, Myoclonus, Oromandibular dys... |
ORPHA:412217 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Loss of ambulation, Right hemiplegia, Decrea... |
OMIM:607426 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Ataxia, Myoclonus |
ORPHA:95428 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon, Ataxia, Spastic paraparesis |
OMIM:277580 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Limb hypertonia |
OMIM:620327 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Oculomotor apraxia, Skeletal muscle atrophy |
OMIM:619759 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death |
OMIM:601612 |
Usher Syndrome |
|
Myopathy, Vestibular areflexia, Ataxia, Abnormal dental enamel morphology |
ORPHA:886 |
Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber si... |
ORPHA:168572 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment |
OMIM:604218 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Stiff neck,... |
ORPHA:297 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Joint laxity, Congenital hip dislocation, Ataxia, Limb-girdle muscle weakness, Dis... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Joint laxity, Congenital hip dislocation, Ataxia, Limb-girdle muscle weakness, Dis... |
ORPHA:590 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Osteopenia, Broad-based gait, Ataxia, Impaired distal proprioceptio... |
ORPHA:14 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Optic nerve hypoplasia, Metatarsus adductus, Calcaneovalgus deformity, Camptodact... |
OMIM:612513 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Mitochondrial Trifunctional Protein Deficiency |
|
Equinus calcaneus, Rhabdomyolysis, Babinski sign, Skeletal myopathy, Tip-toe gait, Left ventricul... |
ORPHA:746 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Talipes equin... |
OMIM:619124 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Distal amyotrophy, Difficulty walking, Increas... |
OMIM:164310 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... |
OMIM:616840 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death |
OMIM:620203 |
Immunodeficiency 9 |
|
Myopathy, Difficulty walking, Amelogenesis imperfecta |
OMIM:612782 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Paraplegia |
ORPHA:79124 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Lipoatrophy, Abnorma... |
ORPHA:79083 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus |
ORPHA:324708 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp... |
ORPHA:280229 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Ataxia, Progressive flexion contractures, Equinus calcaneus, Chorea, 2-3 toe syndac... |
ORPHA:522077 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death |
OMIM:614870 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Broad hallux, Proximal placement of thumb, Tapered finger, Overl... |
ORPHA:435638 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Single transverse palmar crease, Tapered finger, Myoclonus, Type 1 muscle fiber predominance, Inc... |
OMIM:612949 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Hiatus hernia, Optic atrophy, Spastic tetraplegia, Talipes equinovarus, Dystonia, Hand cl... |
OMIM:251300 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Optic disc pallor, Facial hypotonia, Ataxia, Craniosynostosis, Joint st... |
ORPHA:309282 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Flexion contracture, Ataxia |
OMIM:278760 |
Refsum Disease |
|
Skeletal muscle atrophy, Short metacarpal, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sig... |
ORPHA:773 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Ataxia, Limb joint contracture, Postural tremor, Tapered finger, Flexion... |
OMIM:301072 |
Hyperekplexia 1 |
|
Inguinal hernia, Exaggerated startle response, Hip dislocation, Hypertonia, Myoclonus, Umbilical ... |
OMIM:149400 |
Kennedy Disease |
|
Skeletal muscle atrophy, Gait disturbance |
ORPHA:481 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Skeletal muscle atrophy, Inguinal hernia, Tetraplegia, Opisthotonus, Hypertonia |
OMIM:619272 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, 4-5 toe syndactyly, Humeroradial synostosis... |
OMIM:260660 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Congenital contracture, Radioulnar synost... |
OMIM:248700 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Tetanus |
|
Stiff neck, Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiol... |
ORPHA:3299 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Generalized dystonia, Ataxia, Camptodactyly of finger, Joint stiffness, Tremor, ... |
ORPHA:354 |
Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... |
ORPHA:70595 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Small hypothenar eminence, Torticollis, Delayed skeletal maturation, Absent phalangeal crease, Sm... |
OMIM:611929 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:614175 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Spasticity |
ORPHA:803 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Carnitine Deficiency, Systemic Primary |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
Behavioral Variant Of Frontotemporal Dementia |
|
Upper motor neuron dysfunction, Gait disturbance, Fasciculations, Abnormality of extrapyramidal m... |
ORPHA:275864 |
Adrenomyodystrophy |
|
Myopathy, Delayed skeletal maturation, Reduced bone mineral density |
ORPHA:977 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Clonus, Single transverse palmar crease, Achilles tendon contractur... |
OMIM:618076 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Decreased muscle mass, Widened atrophic scar, Distal joint laxity, Generalized joint ... |
ORPHA:1900 |
Immunodeficiency 10 |
|
Myopathy, Amelogenesis imperfecta |
OMIM:612783 |
Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Spastic tetraparesis, Optic atrophy, Myoclonus, Right ventricular hypertrophy, Cli... |
OMIM:614261 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Mesomelia, Prominent fingertip pads, Clino... |
OMIM:618529 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Flexion con... |
OMIM:254940 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Calf muscle hypertr... |
OMIM:618733 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Facial hypotonia, Involuntary movements, Single transverse palmar crease, Cho... |
OMIM:615273 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy |
OMIM:221350 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Chylomicron Retention Disease |
|
Myopathy, EMG: myopathic abnormalities, Impaired proprioception |
ORPHA:71 |
Developmental And Epileptic Encephalopathy 4 |
|
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia |
OMIM:612164 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Action tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis... |
ORPHA:309854 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Abnormality of the autonomic ner... |
ORPHA:43116 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:620233 |
Melas |
|
Abnormal central motor function, Ataxia, Ragged-red muscle fibers, Optic atrophy, Hemiparesis, My... |
ORPHA:550 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ataxia, Left ventricular noncompaction, Myoclonus, Dystonia, Left ventricular ... |
OMIM:619167 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Long toe, Arachnodactyly, Lipodystrophy, Palmoplantar cutis ... |
ORPHA:75496 |
Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy, Palmoplantar keratoderma |
ORPHA:3162 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Ataxia, Overlapping toe, Proximal placement of thumb, Tapered finger, Optic atro... |
OMIM:616737 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction... |
ORPHA:206436 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Clinodactyly of the 5th finge... |
OMIM:300963 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614618 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Flexion contracture, Humeroradial synostosis, F... |
OMIM:207410 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614619 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Inguinal hernia, Toe syndactyly, Camptodactyly of finger, Sandal gap, Down-slop... |
ORPHA:85293 |
Full Schwannomatosis |
|
Bilateral vestibular schwannoma, Hypoesthesia, Paresthesia, Fasciculations, Lipoma |
ORPHA:93921 |
Sandestig-Stefanova Syndrome |
|
Clinodactyly, Bilateral single transverse palmar creases, Rocker bottom foot, Camptodactyly |
OMIM:618804 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Rhizomelia, Single transverse palmar crease, Squared iliac bones, Small hand, Hypopla... |
OMIM:611209 |
Becker Muscular Dystrophy |
|
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking |
ORPHA:98895 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Inability to walk, Optic atrophy, Upper l... |
OMIM:617193 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, ... |
OMIM:619847 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Single transverse palmar crease, Tremor, Flexion contracture, Hypertonia, Clinodactyly of the 5th... |
OMIM:608093 |
Familial Isolated Hypoparathyroidism |
|
Myopathy, Abnormal dental enamel morphology |
ORPHA:2238 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria |
OMIM:619780 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Developmental And Epileptic Encephalopathy 23 |
|
Myoclonus |
OMIM:615859 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,... |
ORPHA:1344 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Inguinal hernia, Ataxia, Optic atrophy, Dysmetria, Myoclonus, Loss of ambu... |
ORPHA:93399 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death |
OMIM:615918 |
Rheumatic Fever |
|
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Arthritis, Gait disturbance, Hemiba... |
ORPHA:3099 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hypertonia, Myoclonus |
OMIM:618240 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Inguinal hernia, Decreased palmar creases, Craniosynostosis, Tapered finge... |
ORPHA:2953 |
Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Single transverse palmar ... |
OMIM:305450 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Single transverse palmar crease, Type 2 muscle fiber predominance, Myopa... |
OMIM:619743 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur... |
OMIM:614856 |
Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Optic atrophy, Generalized amyotrophy, Dystonia, Diaphragmatic eve... |
ORPHA:66634 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Upper limb asymmetry, Myopathy, Arthriti... |
ORPHA:90289 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Brachial plexus neuropathy |
OMIM:162100 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity |
ORPHA:85323 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Optic atrophy, Hemiparesis, Gait disturbance, Spastic paraparesis,... |
ORPHA:395 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Broad-based gait, Dorsocervical fat pad, Down-sloping shoulders, Deviation of the 5... |
ORPHA:391408 |
Congenital Myopathy 17 |
|
Overlapping fingers, Overlapping toe, Tapered finger, Myopathy, Distal arthrogryposis, Hand clenc... |
OMIM:618975 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyl... |
ORPHA:233 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu... |
ORPHA:90354 |
Dpagt1-Cdg |
|
Ataxia, Arachnodactyly, Akinesia, Lipodystrophy, Tremor, Inability to walk, Flexion contracture, ... |
ORPHA:86309 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Involuntary movements, Recurrent fractures, Inab... |
ORPHA:3063 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Optic nerve dysplasia, Talipes equinovarus,... |
OMIM:214110 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Pain insensitivity, Facial hypotonia, Babinski sign, Myoclonus, Spasticity, Abnorma... |
ORPHA:364028 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tap... |
ORPHA:192 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pneumothorax, Optic atrophy, Pulmonary infiltrates... |
ORPHA:538 |
Oculodentodigital Dysplasia |
|
Clinodactyly of the 5th finger, Finger syndactyly, Ataxia, Abnormal dental enamel morphology, Sho... |
ORPHA:2710 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Talipes equinovarus, Camptodactyly |
OMIM:301039 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Umbilical ... |
OMIM:252500 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Ataxia, Talipes equinovarus, Camptodactyly, Tracheomalacia, Caudal appendage |
ORPHA:314679 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Faci... |
OMIM:605711 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Spasticity |
OMIM:618862 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Joint contracture |
OMIM:615704 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy, Abnormal dental enamel morphology |
ORPHA:257 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,... |
ORPHA:95699 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Arachnodactyly, Myoclonus |
OMIM:617600 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Accelerated skeletal maturation, Hypoplastic iliac wing, Long fingers, ... |
OMIM:617561 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Spastic paraparesis, ... |
OMIM:619234 |
Wolfram Syndrome |
|
Ataxia, Joint stiffness, Optic atrophy, Myopathy, Abnormal autonomic nervous system physiology |
ORPHA:3463 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Rhabdomyolysis, Ataxia |
ORPHA:79095 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clinodactyly of... |
OMIM:224690 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Delayed skeletal maturat... |
ORPHA:3068 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Abnormality of the elbow, Limitation of joint mobil... |
ORPHA:1486 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Glass Syndrome |
|
Broad-based gait, Inguinal hernia, Arachnodactyly, Facial hypotonia, Anterior tibial bowing, Tali... |
OMIM:612313 |
Myhre Syndrome |
|
Vertebral fusion, Ataxia, Overlapping toe, Joint stiffness, Hypoplastic iliac wing, Short toe, Ge... |
OMIM:139210 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death |
OMIM:245650 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Death in childhood, Emp... |
OMIM:613177 |
Sialuria |
|
Hyperkinetic movements, Long hallux, Joint hypermobility, 2-3 toe syndactyly |
ORPHA:3166 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l... |
OMIM:605039 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Joint contracture, Myoclonus |
OMIM:614462 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Delayed skeletal maturation, Small hand... |
ORPHA:2323 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Atypical scarring of skin, Camptodact... |
OMIM:601701 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Abnormal pyramidal s... |
OMIM:612199 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death |
OMIM:602199 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity... |
ORPHA:500144 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hemiplegia/hemiparesis |
ORPHA:156 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Cutaneous syndacty... |
OMIM:619148 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Tapered finger, Short toe, Joint hyperflexibility, Abnormal hip bone mor... |
ORPHA:127 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Spasticity |
OMIM:614299 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Generalized amyotrophy, Difficulty wal... |
ORPHA:572798 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Camptodactyly |
OMIM:608104 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Single transverse palmar crease, Deep palmar crease, Polydactyly, C... |
OMIM:247200 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Broad-based gait, Myoclonus |
OMIM:616158 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Partial duplication of thumb phalanx, Partial duplication of the phalanx of hand, ... |
OMIM:616331 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia |
OMIM:616672 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Tapered finger, Tremor, Brachydactyly |
OMIM:619680 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Peho Syndrome |
|
Optic atrophy, Myoclonus, Tapered finger |
OMIM:260565 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Left... |
OMIM:618321 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypertonia, Unsteady gait, Myoclonus |
ORPHA:79096 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Skeletal muscle atrophy, Osteopenia, Inguinal hernia, Myopathy, Atrophic scars, Ta... |
OMIM:614557 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy |
OMIM:613730 |
Renpenning Syndrome |
|
Clinodactyly of the 5th finger, Skeletal muscle atrophy, Abnormal thumb morphology, Joint stiffness |
ORPHA:3242 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Camptodactyly, Clinodactyly of the 5... |
OMIM:617602 |
Scheie Syndrome |
|
Cerebral palsy, Joint stiffness, Limitation of joint mobility, Spastic paraparesis, Abnormal nerv... |
ORPHA:93474 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Laryngeal dystonia, Paresthesia, Myoclonic spasms |
ORPHA:94090 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... |
OMIM:231070 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus |
OMIM:619424 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Optic disc pallor, Multiple joint contractures, Camptodactyly of finger, A... |
ORPHA:468631 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Single transverse palmar crease, Delayed skeletal maturation, Slender long bone, C... |
OMIM:613385 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Arachnodactyly, Craniosynostosis, Metatarsus adductus,... |
OMIM:182212 |
Camurati-Engelmann Disease |
|
Waddling gait, Skeletal muscle atrophy, Increased bone mineral density, Reduced subcutaneous adip... |
OMIM:131300 |
Carcinoid Syndrome |
|
Myopathy |
ORPHA:100093 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myopathy, Rhabdomyolysis |
ORPHA:228305 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Overlapping toe, Craniosynostosis, Tapered finger, Delayed skeletal matu... |
OMIM:309590 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
12Q14 Microdeletion Syndrome |
|
Tremor, Skeletal muscle atrophy, Osteopoikilosis, Clinodactyly of the 5th finger |
ORPHA:94063 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity |
ORPHA:760 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Sagittal craniosynostosis, Small hand, Camptodactyly, Bilateral single transvers... |
ORPHA:459061 |
Ruijs-Aalfs Syndrome |
|
Skeletal muscle atrophy, Lipodystrophy, Single transverse palmar crease, Down-sloping shoulders, ... |
OMIM:616200 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Hallux valgus, Facial hypotonia, Sandal gap, Tremor, Long fingers, Tip-toe gait, D... |
OMIM:617557 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Myoclonus |
ORPHA:411986 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Death in infancy, Miscarriage |
OMIM:613390 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Broad-based gait, Ataxia, Tremor, Gait imbalance, Myoclonus |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Involuntary movements, Clonus, Optic atrophy, Opisthotonus, Myoclonus |
OMIM:620352 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Arachnodactyly,... |
ORPHA:536545 |
Hurler Syndrome |
|
Cerebral palsy, Camptodactyly of finger, Limitation of joint mobility, Abnormal pyramidal sign, A... |
ORPHA:93473 |
Scleromyxedema |
|
Myopathy, Abnormality of the hand, Abnormal forearm morphology, Abnormal skeletal muscle morphology |
ORPHA:167635 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Camptodactyly |
OMIM:614846 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Optic atrophy, Dysmetria, Polydactyly, Myoclonus, Umbilical hernia, Spas... |
ORPHA:93400 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Inguinal hernia |
OMIM:618603 |
Joubert Syndrome |
|
Ataxia, Aganglionic megacolon, Tremor, Hand polydactyly, Gait disturbance, Foot polydactyly, Ocul... |
ORPHA:475 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Ataxia, Choreoathetosis, Type 2 muscle fiber predominance, Short foot, D... |
OMIM:615471 |
Trisomy 17P |
|
Skeletal muscle atrophy, Tapered finger, Flexion contracture, Macroglossia, Hypertonia, Clinodact... |
ORPHA:261290 |
Epidermal Nevus Syndrome |
|
Osteopenia, Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakness of long fi... |
ORPHA:35125 |
Wolfram Syndrome 1 |
|
Tremor, Optic atrophy, Ataxia, Limited mobility of proximal interphalangeal joint |
OMIM:222300 |
Xanthinuria, Type I |
|
Myopathy |
OMIM:278300 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Cutaneous finger syndactyly, Short clavicles, ... |
OMIM:601390 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Optic nerve dysplasia, Optic atrophy, Athet... |
OMIM:614866 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis |
OMIM:617186 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Abnormal autonomic nervous system physiology, Dys... |
ORPHA:2828 |
Familial Infantile Myoclonic Epilepsy |
|
Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus |
ORPHA:352582 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death |
OMIM:619817 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Atelectasis, Pulmonary hypoplasia |
OMIM:269860 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Myopathy, EMG: myopathic abnormalities |
ORPHA:99901 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Congenital hip dislocation, Short metacarpal, Elbow contr... |
OMIM:617137 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Delayed skeletal maturation, Small hand, Short foot, Cutaneous finger syndactyly, Tal... |
OMIM:235510 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Sandal gap, Tremor, Inability to walk, Small hand, 2-3 toe syndact... |
OMIM:619229 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus |
ORPHA:289266 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Amelogenesis imperfecta, Myopathy, Hypocalcification of dental enamel |
ORPHA:169090 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myopathy, Rhabdomyolysis |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Single transverse palmar crease, Trem... |
OMIM:614947 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Camptodactyly of finger, Rocker bottom foot, Elbow flexion contracture, Joint cont... |
OMIM:602782 |
Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements, Craniosynostosis, Accelerated skeletal maturation |
ORPHA:525731 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Facia... |
ORPHA:570 |
D-Glyceric Aciduria |
|
Single transverse palmar crease, Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Myocl... |
OMIM:220120 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equinovarus, Talipes e... |
OMIM:618343 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Hiatus hernia, Hip dislocation, Camptodactyly, Spasticity |
OMIM:617729 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Optic atrophy, Calf m... |
OMIM:253800 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Delayed skele... |
ORPHA:261323 |
Trisomy 10P |
|
Thumb contracture, Decreased muscle mass, Poor motor coordination, Abnormality of the hand, Abnor... |
ORPHA:171929 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Optic atrophy, Myoclonus, Dystonia |
OMIM:617669 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Clinodactyly, Joint hypermobility, Camptodactyly |
OMIM:617360 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Congenital muscular torticollis, Arachnodactyly, Camp... |
ORPHA:2215 |
Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Zygomycosis |
|
Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumonia, Air crescent sign, ... |
ORPHA:73263 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... |
ORPHA:263297 |
Meier-Gorlin Syndrome 2 |
|
Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, ... |
OMIM:613800 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Delayed skeletal maturation, Myopathy, Joint hyperflexibility, Lipoma, B... |
ORPHA:109 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Spastic tetraparesis, Congenital diaphragmatic hernia, Tapered ... |
OMIM:301044 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy |
OMIM:617713 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Joint hypermobility, Joint hyperflexibility |
ORPHA:230839 |
Adrenomyeloneuropathy |
|
Dysesthesia, Progressive spastic paraparesis, Babinski sign, Distal sensory impairment, Abnormali... |
ORPHA:139399 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Babinski sign, Elbow flexion contracture, Hip dislocation, Patellar hypoplasia,... |
ORPHA:3132 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis,... |
ORPHA:2671 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Flexion contracture, Hernia, Camptodactyly |
ORPHA:314588 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atelectasis, Peripapillary atrophy, Pulmonary hypoplasia, Repeated pneumothoraces |
ORPHA:536467 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Inguinal hernia |
OMIM:620326 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Myoclonus, Osteoporosis, Rickets |
OMIM:560000 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus |
ORPHA:168491 |
Hereditary Xanthinuria |
|
Myopathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Inguinal hernia, Broad 2nd toe, Palmoplantar hyperkeratosis, Gait ataxia, Large... |
OMIM:280000 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Recurrent lower respiratory tract infections, Facial palsy |
ORPHA:258 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Lipoatrophy, T... |
ORPHA:51 |
7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis, Delayed skeletal maturation, Clinodactyly o... |
ORPHA:251061 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intention tremor |
OMIM:254900 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Cerebral palsy, Opisthotonus |
OMIM:210210 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Camptodactyly of toe, Arachnodactyly, Broad femoral metaphyses, Camptodactyly |
OMIM:610474 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Arachnodactyly, Facial palsy, Tracheomalacia, Craniofacial osteosclerosis, Osteopath... |
OMIM:300373 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Joint contracture of the hand, Camptodactyly |
OMIM:608257 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, EMG: myopathic abnormalities, Triphal... |
ORPHA:2549 |
Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology, Ataxia, Myoclonus |
OMIM:600072 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Limb pain, Tip-toe gait, Gai... |
ORPHA:512 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617281 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
Afibrinogenemia, Congenital |
|
Neonatal death, Death in infancy, Death in adolescence, Death in childhood |
OMIM:202400 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Steppage gait, Abnormality of peripheral nerve conduction |
ORPHA:168563 |
Galloway-Mowat Syndrome 10 |
|
Arachnodactyly, Myoclonus |
OMIM:619609 |
Barth Syndrome |
|
Skeletal myopathy, Gait disturbance, Talipes equinovarus |
OMIM:302060 |
Alg12-Cdg |
|
Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Long fingers, Abnormal bon... |
ORPHA:79324 |
Boomerang Dysplasia |
|
Neonatal death |
OMIM:112310 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood |
OMIM:618278 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:168593 |
Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Split Cord Malformation |
|
Paraparesis, Talipes cavus equinovarus, Talipes equinovarus, Lipoma, Distal lower limb muscle wea... |
ORPHA:573278 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
Fabry Disease |
|
Abnormality of the hand, Paresthesia, Abnormal autonomic nervous system physiology, Fasciculation... |
OMIM:301500 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Aplasia/... |
ORPHA:646 |
Alexander Disease |
|
Osteopenia, Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, G... |
ORPHA:58 |
Fetal Gaucher Disease |
|
Neonatal death, Death in infancy, Stillbirth |
ORPHA:85212 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture, Generalized lipodystrophy, Panniculitis |
OMIM:619183 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Stormorken Syndrome |
|
Myopathy |
OMIM:185070 |
9P13 Microdeletion Syndrome |
|
Joint stiffness, Hand tremor, Myoclonus, Clinodactyly of the 5th finger, Umbilical hernia, Absent... |
ORPHA:324313 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Babinski sign, Spasticity, Hypertonia, Enamel hypoplasia |
OMIM:615802 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death |
OMIM:618232 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Cubitus valgus, Metatarsus adductus, Delayed skeletal matu... |
OMIM:611962 |
Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Ataxia, Incoordination, Involuntary movements, Chorea, Clumsiness, Choreoathetosis, Fal... |
ORPHA:209905 |
Stromme Syndrome |
|
Myopathy, Preaxial polydactyly, Optic nerve hypoplasia |
OMIM:243605 |
Biotinidase Deficiency |
|
Ataxia, Optic neuropathy, Optic atrophy, Spastic paraparesis, Limb muscle weakness |
ORPHA:79241 |
Lujo Hemorrhagic Fever |
|
Atelectasis |
ORPHA:319213 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:232500 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Smal... |
ORPHA:96334 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Craniosynostosis, Camp... |
OMIM:608156 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Accelerated skeletal maturation, Generalized lipodystrophy, Myopat... |
ORPHA:79086 |
Chromosome 16P13.3 Duplication Syndrome |
|
Inguinal hernia, Facial hypotonia, Rocker bottom foot, Proximal placement of thumb, Tapered finge... |
OMIM:613458 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Cerebral palsy, Dystonia, Tapered finger, Inability to walk, Limited elbow extension, Adducted th... |
OMIM:616973 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia, Air bronchogram |
OMIM:306400 |
Lymphatic Malformation 12 |
|
Neonatal death, Death in adolescence |
OMIM:620014 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Camptodactyly |
ORPHA:363444 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Metatarsus adductus, Osteoporosis, Flared metaphysis, Hip d... |
OMIM:249420 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Smal... |
OMIM:619777 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Inguinal hernia, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Hyper... |
OMIM:227330 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Craniosynos... |
ORPHA:1272 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Autoamputation of digits, ... |
OMIM:256810 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Inguinal hernia, Short femur, Single transverse pa... |
OMIM:616145 |
Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
Orofaciodigital Syndrome Type 3 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Myoclonus, Oculomotor apra... |
ORPHA:2752 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Myopathy, Aganglionic megacolon, Proximal femoral epiphysiolysis |
OMIM:162300 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Overlapping fingers, Overlapping toe, Aganglionic megacolon, Vocal cord paralysi... |
ORPHA:798 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly |
OMIM:614230 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly |
OMIM:619123 |
Tyrosinemia Type 2 |
|
Tremor, Palmoplantar keratoderma, Ataxia |
ORPHA:28378 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:601353 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Aganglionic megacolon, Shortening of all distal phalanges of the fingers, Hip dysplasia, ... |
ORPHA:247262 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Inability to walk, Small hand, Short foot, Myoclonus |
OMIM:300672 |
Scorpion Envenomation |
|
Hemifacial spasm, Ataxia, Tremor, Rhabdomyolysis, Hyperkinetic movements, Paresthesia, Myoclonus |
ORPHA:466677 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Mesomelia, Clinodactyly, Short phalanx of finger, Broad thumb, Camptodac... |
OMIM:616894 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Delayed skeletal maturation, Osteoporosis, Camptodactyly |
ORPHA:432 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Joint stiffness, Hemiplegia/hemiparesis, Optic atrophy, Short foot, Myop... |
ORPHA:1606 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... |
ORPHA:79102 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum, Myoclonus |
OMIM:258850 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Aplasia/Hyp... |
ORPHA:2990 |
Whipple Disease |
|
Myositis, Ataxia, Abnormal pyramidal sign, Arthritis, Myoclonus |
ORPHA:3452 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atrophy, Myoclonus |
ORPHA:72 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyperkinetic movements, A... |
OMIM:617799 |
H Syndrome |
|
Hallux valgus, Lipodystrophy, Recurrent fractures, Delayed skeletal maturation, Osteolysis, Herni... |
ORPHA:168569 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myopathy, Rhabdomyolysis |
ORPHA:157 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy |
OMIM:245400 |
Neuroblastoma, Susceptibility To, 1 |
|
Bone pain, Ataxia, Myoclonus, Horner syndrome |
OMIM:256700 |
Wilson Disease |
|
Dystonia, Poor motor coordination, Osteomalacia, Tremor, Hypoesthesia, Rigidity, Osteoarthritis, ... |
OMIM:277900 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy |
OMIM:115197 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy |
ORPHA:85450 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Flexion contractur... |
ORPHA:487796 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Lar... |
ORPHA:500095 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Craniosynostosis, Postaxial polydactyly, Preaxial p... |
OMIM:614976 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Ragged-red muscle fibers, B... |
OMIM:252010 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow... |
ORPHA:39812 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Postaxial hand polydactyly, Finger syndactyly |
ORPHA:110 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palma... |
OMIM:612474 |
Williams Syndrome |
|
Osteopenia, Tremor, Dysmetria, Clinodactyly of the 5th finger, Joint laxity, Increased bone miner... |
ORPHA:904 |
Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Single transverse palmar crease, Proximal placement of thumb,... |
OMIM:229850 |
Abcd Syndrome |
|
Neonatal death |
OMIM:600501 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Single transverse palmar crease, Myopathy, Panniculitis, Clinodactyly, Broad thumb |
OMIM:612541 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Flexion contracture, Osteolysis, Myopathy, Gait disturbance, Narrow iliac wing |
ORPHA:3042 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Myoclonus, Dystonia |
OMIM:620167 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Optic atrophy, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypoplasia... |
ORPHA:899 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atelectasis, Recurrent respiratory infections, Death in infancy |
ORPHA:534 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Choreoathetosis, Myoclonus, Broad finger, Dystonia, Episodic ataxia, Umbilical hernia, Sp... |
ORPHA:1934 |
Recon Progeroid Syndrome |
|
Joint laxity, Skeletal muscle atrophy, Arachnodactyly, Proximal placement of thumb, Long thumb |
OMIM:620370 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly |
ORPHA:228426 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Atelectasis, Optic atrophy, Abnormal lung lobation |
ORPHA:567 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Broad toe, Diastasis recti, Inability to walk, Delayed skeletal maturati... |
ORPHA:488632 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Myoclonus, Joint hypermobility, Cortical myoclonus |
OMIM:615816 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Inability to walk, Rhabdomyolysis, Increased intramyoc... |
ORPHA:26791 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Death in infancy |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Death in infancy |
OMIM:618839 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Somatic sensory dysfunction, Optic ... |
ORPHA:191 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia, Rigid... |
ORPHA:217253 |
Donohue Syndrome |
|
Delayed skeletal maturation, Skeletal muscle atrophy, Adipose tissue loss, Large hands |
OMIM:246200 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Arachnodactyly, Protrusio acetabuli, ... |
OMIM:154700 |
Werner Syndrome |
|
Skeletal muscle atrophy, Increased bone mineral density, Lipodystrophy, Lipoatrophy, Rocker botto... |
ORPHA:902 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis |
ORPHA:365 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Myoclonus |
OMIM:246450 |
Eales Disease |
|
Optic disc pallor, Spastic paraparesis |
ORPHA:40923 |
Meester-Loeys Syndrome |
|
Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Umbilical hernia, Joint contractur... |
OMIM:300989 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati... |
ORPHA:284339 |
Glycerol Kinase Deficiency |
|
Myopathy, Osteoporosis, Muscular dystrophy, Pathologic fracture |
OMIM:307030 |
Malignant Hyperthermia Of Anesthesia |
|
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... |
ORPHA:423 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis, Myo... |
ORPHA:251004 |
Listeriosis |
|
Somatic sensory dysfunction, Stiff neck, Ataxia, Osteomyelitis, Tremor, Rhabdomyolysis, Hemipares... |
ORPHA:533 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Polydactyly, Myoclonus |
ORPHA:314655 |
Argininemia |
|
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis |
OMIM:207800 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Osteoporosis |
OMIM:219080 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Metaphyseal widening, Delayed skeletal maturation, Rickets, Genu valgum,... |
OMIM:219800 |
Vici Syndrome |
|
Left ventricular hypertrophy, Myopathy |
OMIM:242840 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hip dislocation, Hip dysplasia, Talipes equ... |
OMIM:617403 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Optic disc pallor, Unsteady gait, Flexion contracture, Difficulty walkin... |
ORPHA:90324 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Long fingers, Calcaneovalgus d... |
OMIM:256520 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Joint stiffness |
OMIM:615934 |
Renpenning Syndrome 1 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Clinodactyly of the 5th ... |
OMIM:309500 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy |
OMIM:614300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Myopathy |
OMIM:261740 |
Leprosy |
|
Skeletal muscle atrophy, Autoamputation of digits, Impaired temperature sensation, Dysesthesia, D... |
ORPHA:548 |
Lafora Disease |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity, Giant soma... |
ORPHA:501 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynostosis,... |
OMIM:610168 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Osteoporosis, Pelvic girdle... |
ORPHA:79240 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus add... |
ORPHA:2461 |
Kinsship Syndrome |
|
Osteopenia, Single transverse palmar crease, Spastic tetraparesis, Coxa valga, Hip dislocation, F... |
OMIM:619297 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Bilateral tal... |
OMIM:255995 |
Relapsing Polychondritis |
|
Atelectasis |
ORPHA:728 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Reduced subcutaneous adipose tissue, Overlapping toe, Knee flexion contracture, Hip... |
OMIM:617402 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death |
OMIM:615709 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Skeletal muscle atrophy, Hypoplastic scapulae, Lipodystrophy, Camptodactyly of fin... |
OMIM:256040 |
Ethylene Glycol Poisoning |
|
Slurred speech, Ataxia, Facial palsy, Myoclonus |
ORPHA:31826 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Ayme-Gripp Syndrome |
|
Tapered finger, Radioulnar synostosis, Brachydactyly, Camptodactyly |
OMIM:601088 |
Microphthalmia, Syndromic 2 |
|
Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Flexion contracture, 2-3 toe syndactyly, ... |
OMIM:300166 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Clinodactyly, Camptodactyly |
OMIM:619343 |
Pgm3-Cdg |
|
Osteomyelitis, Ataxia, Myoclonus, Cortical myoclonus, Brachydactyly |
ORPHA:443811 |
Mednik Syndrome |
|
Neonatal death, Death in infancy, Death in childhood |
OMIM:609313 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talip... |
OMIM:200110 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Overlapping fingers, Adducted thumb |
OMIM:608779 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Ataxia, Myoclonus, Spastic hemiparesis |
ORPHA:20 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Talipes equinovarus, ... |
OMIM:609192 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Decreased muscle mass, Abnormal dental enamel morphology, Macro... |
ORPHA:744 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Camptodactyly of finger, Metatarsus adductus, Delayed skeletal maturation, Opt... |
OMIM:607872 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy |
ORPHA:90045 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Broad-based gait, Ulnar deviation of the hand, Broad hallux, Long toe,... |
ORPHA:261537 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy |
OMIM:265120 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Abnormality of the tongue muscle, Inability to walk, Abnormality of mast... |
ORPHA:273 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Atypical scarring of skin, Skeletal muscle atrophy, Flexion contracture, Mitten deformity |
ORPHA:89842 |
Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Genu varum |
ORPHA:1969 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Spastic tetraplegia, Clonus, Myoclonus |
OMIM:619055 |
Lathosterolosis |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Toe syndactyly, Myoclonus |
ORPHA:46059 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death |
OMIM:619362 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Osteoporosis |
OMIM:219090 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, ... |
ORPHA:828 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities |
ORPHA:280200 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Tetraparesis, Tracheomalacia |
OMIM:203700 |
Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Broad-based gait, Ulnar deviation of the hand, Ataxia, Recurrent fract... |
ORPHA:2152 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonus |
OMIM:614946 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Osteoporosis, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Flexion contracture, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyly, Broad hallux, A... |
ORPHA:261552 |
Digeorge Syndrome |
|
Atelectasis, Recurrent pneumonia, Recurrent sinusitis |
OMIM:188400 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal synostosis, Ulnar bowing, Humeroradi... |
OMIM:201750 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Spasticity, Hypertonia, Ataxia, Myoclonus |
OMIM:618426 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Uterine prolapse, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynos... |
OMIM:613795 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Optic... |
OMIM:309800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Broad-based gait, Exaggerated startle response, Optic disc pallor, Invo... |
ORPHA:438213 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Joint hypermobility, Metatarsus adductus, Flexi... |
OMIM:259050 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Skeletal muscle atrophy |
OMIM:615895 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Increased bone mineral density, Lipoatrophy, Roc... |
ORPHA:79474 |
Dermatomyositis |
|
Inflammatory myopathy, Cellulitis, Chondrocalcinosis, Arthritis |
ORPHA:221 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Swelling of proximal interphalangeal joints... |
ORPHA:3260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Spasticity, Optic atrophy, Muscular dystrophy, Myoclonus |
OMIM:253280 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr... |
ORPHA:558 |
Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, Abnormal toe morph... |
ORPHA:79500 |
Immunodeficiency 31C |
|
Osteopenia, Skeletal muscle atrophy, Osteomyelitis |
OMIM:614162 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Delayed skeletal maturation, Osteoporosis, Recurrent fractures |
OMIM:222700 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Rhabdomyosarcoma |
ORPHA:647 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy |
OMIM:618252 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Large hands |
ORPHA:508 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Fasciculations |
ORPHA:99827 |
Pierson Syndrome |
|
Skeletal muscle atrophy |
OMIM:609049 |
Myasthenic Syndrome, Congenital, 8 |
|
Weakness of facial musculature |
OMIM:615120 |