Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Uppe... |
OMIM:612577 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Vocal cord pares... |
OMIM:614895 |
Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... |
OMIM:253550 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Upper limb muscle weakness, Choreoathetosis, Hypertonia, Atrophy/Degeneration involv... |
ORPHA:225154 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Lower limb spasticity, Amyotrophic lateral sclerosis, Loss of ambulation, Lower limb muscle weakn... |
OMIM:614373 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... |
OMIM:608030 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet... |
OMIM:617892 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm... |
ORPHA:65684 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Fatty replacement of skeletal muscle, Babinski sign, Hand tremor, Distal amyotrophy, Hammertoe, S... |
OMIM:618279 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... |
OMIM:608340 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity |
OMIM:611895 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Impaired proprioception, Babinski sign, Limb ataxia, Dysmetr... |
ORPHA:101108 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima... |
OMIM:604484 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... |
ORPHA:247604 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Foot dorsiflexor weakness, Thenar muscle atrophy, Segmental peripheral demyelination/remyelinatio... |
OMIM:606483 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Quadriceps muscle ... |
ORPHA:101097 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Segmental per... |
OMIM:180800 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal amyotrophy, Cerebellar vermis atrophy |
OMIM:617018 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Hand muscle atrophy, Lower limb spasticity, Demyelinating motor neuropathy, Spastic paraplegia, O... |
OMIM:615658 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... |
OMIM:159950 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,... |
OMIM:608627 |
Miyoshi Myopathy |
|
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... |
ORPHA:45448 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis |
OMIM:300857 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Steppage gait, Limb muscle weakness, Onion... |
OMIM:620378 |
Myopathy, Distal, 3 |
|
Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abno... |
OMIM:610099 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Tremor,... |
OMIM:609260 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Fatty replacement of skeletal muscle... |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... |
ORPHA:401768 |
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 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, C... |
OMIM:607596 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Babinsk... |
OMIM:612335 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Distal lower limb amyotrophy, Hammertoe, Distal upper limb amyotrophy, Steppage gait, Axonal rege... |
OMIM:615185 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Split hand, Distal amyotrophy, Hammertoe,... |
OMIM:118200 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... |
OMIM:617046 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Segmental peripheral de... |
OMIM:145900 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Inc... |
ORPHA:276435 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... |
OMIM:236792 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Waddling gait, Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle ... |
ORPHA:34515 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... |
OMIM:617672 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... |
OMIM:608358 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... |
ORPHA:482601 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb... |
OMIM:615035 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... |
OMIM:605285 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations |
OMIM:619141 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Skeletal muscle atrophy, Short stature, Scissor gait, Hypertonia, Spasticity |
ORPHA:401805 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... |
ORPHA:219 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... |
OMIM:617760 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait... |
ORPHA:95434 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:118220 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Skeletal muscle atrophy, Short stature, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, ... |
OMIM:615686 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr... |
OMIM:603511 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations... |
OMIM:615048 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Steppage gait, Axonal ... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Distal amyotr... |
OMIM:607677 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... |
ORPHA:370980 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Spastic paraplegia, Optic atrophy, Babinski sign, Abnormal myelinat... |
ORPHA:431329 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Abnormal... |
ORPHA:401820 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Small hypot... |
OMIM:609311 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Onion bulb formation, Facial palsy, Flexion contracture, Distal amyotrophy, ... |
OMIM:607684 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Hand muscle weakness, Peroneal muscle atrophy, Axonal degeneration, Axonal l... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Foot dorsiflexor weakness |
OMIM:616039 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gliosis, Myoclonus, Gait disturban... |
OMIM:221770 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... |
ORPHA:309169 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Scapuloperoneal a... |
OMIM:611067 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Limb-girdle muscle weakness, ... |
OMIM:613818 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb muscle weakness... |
ORPHA:98916 |
Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy, Respiratory paralysis |
OMIM:158650 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat... |
OMIM:117000 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Short metacarpal, Short stature, Ataxia, Centrally n... |
OMIM:248800 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Leukocytosis, Abnorma... |
ORPHA:206594 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet... |
OMIM:602771 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5 |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:600794 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, ... |
ORPHA:101077 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Achilles tendon contracture, Tip-... |
ORPHA:62 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Ro... |
OMIM:611890 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:612539 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P... |
OMIM:606353 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... |
OMIM:608634 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... |
OMIM:253600 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Skeletal muscle atrophy, Distal lower... |
ORPHA:276244 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy,... |
ORPHA:86812 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Toe joint contra... |
OMIM:620310 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Babinski sign, Spasticity, Spastic gait |
OMIM:615681 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Ankle clonus, ... |
OMIM:610250 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Distal amyotrophy, Onion b... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Distal lower limb amyotrophy, Peripheral axonal degeneration, Decreased numbe... |
OMIM:302800 |
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 |
Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atro... |
ORPHA:2254 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... |
OMIM:500002 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Babinski sign, Knee flexion contrac... |
OMIM:615043 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... |
OMIM:601472 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:604563 |
Developmental And Epileptic Encephalopathy 14 |
|
Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo... |
OMIM:614959 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Gait ataxia |
OMIM:253590 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign |
ORPHA:357043 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Short stature, Acute rhabdomyolysis, Ataxia, Chorea, Axonal degen... |
OMIM:604168 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Axonal loss, T... |
OMIM:612954 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Distal amyotrophy, Gait disturba... |
OMIM:311070 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Axonal dege... |
OMIM:600882 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ... |
OMIM:617066 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased number of peri... |
OMIM:607706 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... |
ORPHA:2590 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Unsteady gait, Abno... |
ORPHA:600 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo... |
OMIM:182815 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Upper limb amyotrophy, Distal amyotrophy, Gait imbalance, Difficult... |
ORPHA:99953 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Prolonged central motor conduction time, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia |
OMIM:616282 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Short stature, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, ... |
OMIM:619065 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Ataxia, Coxa valga, Avascular necrosis of the capi... |
ORPHA:559 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Foot dorsiflexor weakness, Distal amyotrophy, Steppage gait, Peripheral demyelination, Axonal deg... |
OMIM:607736 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Ataxia, Abnormal toe morphology, Obesity, Muscular dystrophy... |
ORPHA:459033 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Distal amyotrophy, Steppage gait, Hammertoe, Onion bulb formation |
OMIM:610100 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... |
OMIM:301830 |
Spastic Paraplegia 2, X-Linked |
|
Skeletal muscle atrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
Nonaka Myopathy |
|
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... |
OMIM:605820 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Hand muscle weakness, Unsteady gait, Falls, Dif... |
ORPHA:2932 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Lower limb spasticity, Clonus, Knee flexion contracture, Spastic gait |
ORPHA:401785 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Gait disturbance, Peripheral demyelination |
ORPHA:99944 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa... |
OMIM:601287 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... |
ORPHA:488594 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... |
OMIM:606070 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... |
OMIM:618823 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gliosis, Apraxia, CNS demyelinatio... |
OMIM:221820 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Upper l... |
OMIM:605588 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Upper limb muscle weakness, Distal amyotrophy, Babinski sign, Hypertonia |
OMIM:182960 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly... |
OMIM:604320 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere... |
ORPHA:306692 |
Dysequilibrium Syndrome |
|
Skeletal muscle atrophy, Cerebral palsy, Short stature, Ataxia |
ORPHA:1766 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
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 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... |
ORPHA:521406 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Dpm3-Cdg |
|
Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed... |
ORPHA:263494 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... |
OMIM:618387 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polyminimyoclo... |
OMIM:619574 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo... |
OMIM:616287 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... |
ORPHA:603 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia, Neuronal loss in ce... |
OMIM:600795 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg... |
ORPHA:803 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne... |
ORPHA:100985 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... |
ORPHA:204 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Inability to walk, Motor axonal ne... |
OMIM:618276 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Proxima... |
ORPHA:598 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... |
ORPHA:266 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ... |
OMIM:616516 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... |
ORPHA:99947 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Myopathy, Centronuclear, 4 |
|
Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contractur... |
OMIM:608840 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis, Segmental peripheral demyelination/remyelination, Hand muscle weakness |
OMIM:162500 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... |
OMIM:215470 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
Gemignani Syndrome |
|
Skeletal muscle atrophy, Short stature, Ataxia, Hemiplegia/hemiparesis, Delayed puberty |
ORPHA:2074 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Ragged-red muscle fibers, Lower limb amyotrophy, Babinski sign, Upper limb amyotro... |
OMIM:616924 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Short stature, Corpus callosum atrophy, Hoffmann sign, Bab... |
OMIM:601162 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph... |
OMIM:607791 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Frequent falls, Hand muscle weakness, Decreased number of large... |
ORPHA:99948 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Lower-limb joint contracture, D... |
OMIM:613710 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Inability to walk, Hypoglycosylation of alpha-dystroglycan, Ataxia, Muscular dystrophy |
OMIM:615350 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... |
OMIM:604360 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... |
ORPHA:320370 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Inability to wal... |
OMIM:618184 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Tremor, Distal upper limb amyotrophy, Gait disturbance, Abn... |
ORPHA:101075 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Ankle clonus, ... |
OMIM:611225 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... |
OMIM:620068 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Neurodege... |
OMIM:615643 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Onion bulb formation, Syndactyly, Upper limb muscle weakness, Gait distu... |
OMIM:615284 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Abnormal peripheral nervous system morphology, Muscle fiber cytoplasmatic inclusio... |
OMIM:609524 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Short stature, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... |
OMIM:213200 |
Null Syndrome |
|
Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, ... |
ORPHA:280234 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... |
OMIM:158901 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Rimmed vacuoles |
OMIM:604454 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Broad-based gait, At... |
OMIM:609033 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Ankle flexion contracture, Axonal loss, Distal arthrogryposis, Peripheral hypomyelination, Gait d... |
OMIM:611228 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis |
OMIM:614915 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Hypertonia, Gliosis, Intrauterine ... |
OMIM:615095 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Inability to walk, Flexion contracture, Hip dislocation, Skeletal muscle hypertroph... |
OMIM:613156 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
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Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... |
OMIM:608099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Spinocerebellar Ataxia Type 37 |
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Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia |
OMIM:213000 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Optic atro... |
ORPHA:272 |
Muscular Dystrophy, Congenital, 1B |
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Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Congenital Disorder Of Glycosylation, Type Ie |
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Short palm, Ataxia, Ankle flexion contracture, Tremor, Splenomegaly, Optic atrophy, Upper limb un... |
OMIM:608799 |
Spinocerebellar Ataxia Type 25 |
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Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... |
ORPHA:101111 |
X-Linked Progressive Cerebellar Ataxia |
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Distal lower limb amyotrophy, Babinski sign, Cerebellar vermis atrophy, Unsteady gait, Dysmetria,... |
ORPHA:1175 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Periphe... |
OMIM:605253 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... |
ORPHA:330050 |
Myopathy, Centronuclear, 2 |
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Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexio... |
OMIM:255200 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
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Muscle fiber hyaline bodies, Short stature, Centrally nucleated skeletal muscle fibers, Scapulope... |
OMIM:255160 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
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Cerebellar atrophy, Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Cerebra... |
OMIM:300423 |
Spinocerebellar Ataxia 12 |
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Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy... |
OMIM:181350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon con... |
OMIM:606612 |
Miyoshi Muscular Dystrophy 3 |
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Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... |
OMIM:613319 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
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Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, F... |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
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Decreased number of large peripheral myelinated nerve fibers, Distal amyotrophy, Steppage gait, H... |
OMIM:615376 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:616208 |
Spinal Muscular Atrophy, Infantile, James Type |
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Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va... |
OMIM:619042 |
Spinocerebellar Ataxia 11 |
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Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Muscular Dystrophy, Congenital, Lmna-Related |
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Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... |
OMIM:613205 |
Triose Phosphate-Isomerase Deficiency |
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Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration... |
ORPHA:868 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
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Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... |
OMIM:605726 |
Spinocerebellar Ataxia 17 |
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Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, ... |
OMIM:607136 |
Spastic Ataxia 5, Autosomal Recessive |
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Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dist... |
OMIM:614487 |
Spinocerebellar Ataxia Type 12 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... |
ORPHA:98762 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Bethlem Myopathy |
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Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Congenital Myopathy 18 |
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Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Primary Orthostatic Tremor |
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Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
X-Linked Centronuclear Myopathy |
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Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... |
ORPHA:596 |
Urocanase Deficiency |
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Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
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Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... |
OMIM:271245 |
Congenital Myopathy 4A, Autosomal Dominant |
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Congenital hip dislocation, Limb joint contracture, Facial palsy, Centrally nucleated skeletal mu... |
OMIM:255310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Facial palsy, Inability to walk, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Musc... |
OMIM:613155 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, F... |
ORPHA:353 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu... |
OMIM:607250 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
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Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Tetraparesis,... |
OMIM:616827 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
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Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... |
OMIM:619519 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Oculopharyngodistal Myopathy 3 |
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Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m... |
ORPHA:238329 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Autosomal Dominant Spastic Paraplegia Type 17 |
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Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... |
ORPHA:100998 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Retinal dysplasia, Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Hereditary Motor And Sensory Neuropathy V |
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Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Spasticity, Di... |
OMIM:600361 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... |
OMIM:226670 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
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Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Hand tr... |
ORPHA:352675 |
Machado-Joseph Disease |
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Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign,... |
OMIM:109150 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi... |
OMIM:607459 |
Charcot-Marie-Tooth Disease Type 1F |
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Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Demyelinating motor neuropath... |
ORPHA:101085 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Childhood-Onset Nemaline Myopathy |
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Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Atypical Juvenile Parkinsonism |
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Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
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Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
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Skeletal muscle atrophy, Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance |
ORPHA:101078 |
Myopathy, Distal, 5 |
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Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 20 |
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Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Autosomal Dominant Striatal Neurodegeneration |
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Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Short stature, Centrally nucleated skeletal muscle fibers, Loss of ambulation, Failure to thrive,... |
OMIM:619518 |
Merrf |
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Ataxia, Short stature, Ragged-red muscle fibers, Optic atrophy, Myopathy |
ORPHA:551 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Short st... |
ORPHA:464282 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
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Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Spa... |
OMIM:618369 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
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Spastic tetraparesis, Babinski sign, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher... |
OMIM:249900 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ... |
OMIM:169500 |
Spastic Paraplegia 70, Autosomal Recessive |
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Skeletal muscle atrophy, Achilles tendon contracture, Growth delay, Ankle clonus, Fasciculations,... |
OMIM:620323 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Optic atrophy, Hypertonia, Neurodegenerati... |
OMIM:245200 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... |
ORPHA:1878 |
Adult-Onset Nemaline Myopathy |
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Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... |
ORPHA:171442 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... |
OMIM:607225 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Optic atrophy, Spastic parap... |
OMIM:613162 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral ... |
OMIM:615911 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased muscle mass, Peripheral axonal ... |
OMIM:615490 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Axonal loss, Distal upper limb amyotrophy, Ham... |
OMIM:614455 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postural tremor, Babinski sig... |
ORPHA:3115 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia... |
OMIM:610357 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Abn... |
OMIM:614498 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita |
OMIM:611369 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... |
OMIM:612937 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... |
OMIM:300717 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasc... |
ORPHA:275864 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Centrally nucleated skeletal muscle ... |
ORPHA:324581 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Distal a... |
OMIM:617207 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism |
OMIM:600274 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Ragged-red muscle fibers, Babinski sign, Growth delay, Myopathy, Leukodystrophy, Difficul... |
OMIM:618242 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsine... |
ORPHA:206448 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Swan neck-like deformities of the fingers, Ataxia, Pe... |
OMIM:270550 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Rigidity, Hypertonia, Muscular dystrophy |
OMIM:613869 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, CNS hypomye... |
OMIM:616239 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Inability to walk, Astrocytosis, Difficulty walking, Slender build |
OMIM:611087 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Abnormal motor neuron morphology |
DECIPHER:29 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty w... |
ORPHA:369840 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Segmental peripheral demyelination/remyelination, Unsteady gait, Distal amyo... |
OMIM:601455 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy |
OMIM:310095 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Postnatal growth retardation, Flexion contracture, Left ventricular hy... |
OMIM:616733 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... |
OMIM:500003 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet... |
ORPHA:169189 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fas... |
OMIM:183050 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Clumsiness, Step... |
ORPHA:399086 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased variability in muscle f... |
OMIM:614399 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a... |
ORPHA:401830 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Neurodeg... |
OMIM:615889 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa... |
OMIM:615924 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Delayed puberty |
OMIM:615683 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:615352 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Hip di... |
OMIM:254090 |
Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy |
OMIM:616209 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Hypertonia, Gliosis, Myoclonus, Spasticity |
OMIM:225753 |
Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Paraplegia, Peripheral demyelination, Myelitis |
ORPHA:71211 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ... |
OMIM:619028 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Lower limb muscle weakness, Truncal titubation, Babinski sign, Abnormal pyr... |
OMIM:610532 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... |
ORPHA:2589 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Facial Onset Sensory And Motor Neuronopathy |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... |
OMIM:620161 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
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Optic atrophy, Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Gait disturbance |
ORPHA:1875 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:616094 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Cerebellar atrophy, Babinski sign, Optic atrophy, Distal amyotrophy, Distal lower limb muscle wea... |
ORPHA:468661 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Epilepsy, Familial Adult Myoclonic, 3 |
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Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
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Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, P... |
OMIM:619216 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
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Tremor, Distal amyotrophy, Ataxia |
OMIM:619099 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Abnormality of the dorsal column of the spinal cord, Tremor, Flexion contracture, Hypertonia, Pro... |
ORPHA:137898 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Demyelinating motor neuropathy, Distal amyotrophy, Demyelinating sensory neuropathy |
ORPHA:639 |
Legg-Calvé-Perthes Disease |
|
Skeletal muscle atrophy, Short stature |
ORPHA:2380 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Upper li... |
ORPHA:139536 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:171863 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elb... |
ORPHA:75840 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Thenar muscle ... |
OMIM:270685 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Increased muscle lipid c... |
ORPHA:324604 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Short stature, Abnormal morphology of musculature of pharynx, Ataxia, Titu... |
ORPHA:280210 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatty replacement of skeletal muscle, Abno... |
ORPHA:1320 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Bethlem Myopathy 2 |
|
Scapular winging, Flexion contracture, Hip dislocation, Myopathy, Increased variability in muscle... |
OMIM:616471 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber... |
OMIM:617915 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic par... |
OMIM:615157 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large p... |
OMIM:208920 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Op... |
OMIM:210000 |
Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre... |
OMIM:300580 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
King-Denborough Syndrome |
|
Short stature, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Musc... |
OMIM:619542 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neuronal loss... |
OMIM:604218 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Gait ataxia, Steppage gait, Muscle fiber necro... |
OMIM:258450 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue |
OMIM:602541 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Dpm1-Cdg |
|
Cerebellar atrophy, Sandal gap, Ataxia, Delayed myelination, Optic atrophy, Cerebral atrophy, Kne... |
ORPHA:79322 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Achilles tendon con... |
OMIM:617258 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity |
OMIM:545000 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ... |
OMIM:610245 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Muscular dystrophy |
OMIM:204730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, Hypertonia, Muscular dy... |
OMIM:615351 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... |
ORPHA:97240 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere... |
OMIM:617916 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Abnormal spinal cord morphology, Spastic parap... |
ORPHA:139578 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus, Increased variability i... |
OMIM:617235 |
Hemimegalencephaly |
|
Optic atrophy, Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Decreased testicular size, Lower limb spasticity, Broad-based gait, Ataxia, C... |
ORPHA:320391 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Hypomimic face, Bradykinesi... |
OMIM:615528 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... |
ORPHA:209335 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Gait disturbance, Abnorm... |
ORPHA:99014 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Flexion co... |
OMIM:271225 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
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 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
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 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Muscular dystrophy |
OMIM:300376 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Demyelinating moto... |
OMIM:616479 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Limb joint contracture, Clonus, Delayed myelination,... |
OMIM:613811 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal lower limb amyotrophy,... |
OMIM:613287 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot... |
OMIM:615159 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Flexion cont... |
OMIM:615491 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios... |
ORPHA:276241 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve ... |
ORPHA:320406 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... |
OMIM:619790 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Taper... |
OMIM:218000 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal pyramida... |
OMIM:256600 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... |
OMIM:619862 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Clasp-knife sign, Tibial... |
ORPHA:101076 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia... |
OMIM:612936 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach... |
OMIM:620351 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Neck joint contracture, Achilles tendon con... |
OMIM:255600 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red musc... |
ORPHA:254886 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Limb ataxia, ... |
OMIM:617633 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Action tremor, Rigidity, Splenomegaly, Truncal ataxia, Astrocytosis, Bradykinesia, Poor... |
ORPHA:309854 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter... |
OMIM:125250 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Abnormality of the seventh cranial nerve, Upper limb muscle weakness, ... |
ORPHA:90117 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... |
ORPHA:100070 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Acute demyelinating polyneuro... |
ORPHA:101081 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski sign... |
ORPHA:496689 |
Adducted Thumbs Syndrome |
|
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita, Cerebral dysmyelination |
OMIM:201550 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Weakness of facial musculature, Ataxia, Cerebral atrophy |
OMIM:618637 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Optic atrophy, CNS demyelination, Gliosis, Cerebral hypomyelination, Spasticity |
OMIM:603896 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Rigidity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber... |
OMIM:300718 |
Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Abnormal pyramidal sign, Babinski sign, Dysmetria, Growth delay, Distal am... |
OMIM:618438 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... |
OMIM:616081 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... |
OMIM:300816 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Astr... |
ORPHA:258 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move... |
ORPHA:98759 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Short stature, Ragged-red muscle fibers, Proximal muscle... |
ORPHA:457050 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Autosomal Dominant Spastic Paraplegia Type 41 |
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Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Sp... |
ORPHA:320355 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... |
OMIM:607678 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Spastic paraplegia, Gait disturbance, Tetraparesis, Abnormal upper ... |
OMIM:263570 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Cerebellar glio... |
OMIM:616505 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Foot do... |
OMIM:302801 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Unstead... |
ORPHA:420492 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a... |
ORPHA:306669 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Spinal muscular atrophy, Fasciculations, Proximal amyotrophy |
OMIM:271200 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... |
OMIM:608323 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Ane Syndrome |
|
Multiple joint contractures, Short stature, Motor neuron atrophy, Generalized amyotrophy, Delayed... |
ORPHA:157954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy |
OMIM:309930 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder girdl... |
OMIM:607155 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Axonal degeneration, Diaphragmatic paralysis, Plantar flexion contractur... |
OMIM:620011 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Hy... |
OMIM:617013 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr... |
OMIM:620285 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypogonadism, Myoclonus... |
ORPHA:97229 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... |
OMIM:607088 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Distal ... |
OMIM:612020 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:610185 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Limb dystonia, Bilateral coxa valga, Intrauterine growth retardation |
OMIM:620270 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination |
ORPHA:401835 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Elbow flexion contracture |
OMIM:619470 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar... |
OMIM:616719 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Overlapping fingers, Femoral ... |
OMIM:616531 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Calcaneov... |
ORPHA:93952 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness |
OMIM:615980 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Limb muscle weakness |
OMIM:619133 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, Gait atax... |
OMIM:610246 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross... |
OMIM:619903 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
Optic Atrophy 11 |
|
Delayed CNS myelination, Short stature, Optic nerve hypoplasia, Ataxia, Splenomegaly, Gait apraxi... |
OMIM:617302 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Fr... |
ORPHA:99949 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Flexion contracture, Elbow fle... |
OMIM:214150 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Type 1 muscle fiber... |
OMIM:617519 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Myelin outfoldings, Ataxia, Cerebral dysmyelination, Dysmyelinating leukodystrophy, ... |
OMIM:609136 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetr... |
OMIM:616586 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Spasticity, Diffuse demyelination of ... |
ORPHA:168486 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... |
OMIM:619279 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Calf muscle pseudohypertrophy, Achilles tendon contracture, Flexion contracture, H... |
OMIM:310200 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Lower limb spasticity, Ata... |
OMIM:617193 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy |
OMIM:300983 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... |
OMIM:616907 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula... |
OMIM:612016 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... |
ORPHA:329478 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Neuromyotonia, Fasciculations, Foot dorsiflexor weakness |
OMIM:137200 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign... |
OMIM:608703 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Postural tremor, Chorea, Slurred speech, O... |
ORPHA:98755 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal pyramida... |
ORPHA:99013 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Cerebellar vermis atrophy, Spastic dysarthria, Distal amyotrophy, Spinocerebellar tract d... |
ORPHA:94124 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:100999 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Gliosis |
OMIM:613002 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... |
ORPHA:972 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Sp... |
OMIM:617810 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:604213 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Bab... |
OMIM:612674 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Babinski sign, Proximal amyotrophy, Pr... |
ORPHA:2596 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Dystonia, Chorea, Myoclonus, Difficulty walking, Facial myokymia, Limb hypertonia |
ORPHA:324588 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Babinski sign, Optic atrophy, Spastic par... |
OMIM:619686 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Split hand, Axonal reg... |
OMIM:607831 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Short stature, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Ba... |
OMIM:252011 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... |
ORPHA:139480 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Gait d... |
ORPHA:391417 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Broad hallux, Short stature, Ataxia, Splenomegaly, Cerebral atrophy, Broad th... |
OMIM:272200 |
Tangier Disease |
|
Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular ... |
OMIM:205400 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... |
ORPHA:442835 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Postural tremor, Tremor, Babinski sign... |
OMIM:607694 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amy... |
ORPHA:313772 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Growth delay, Choreoathetosis, Leuk... |
OMIM:614932 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Babinski sign, Optic atrophy,... |
OMIM:270800 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... |
OMIM:617228 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,... |
OMIM:128100 |
Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Gait disturbance,... |
OMIM:250100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Babinski sign, Abnormal pyrami... |
OMIM:616688 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Generalized limb muscle atrophy, Spasticity, Gait ataxia, Progressive cerebellar a... |
ORPHA:466794 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadoc... |
ORPHA:254881 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Nathalie Syndrome |
|
Growth delay, Skeletal muscle atrophy |
OMIM:255990 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Peripheral dy... |
ORPHA:101082 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle ... |
ORPHA:353327 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
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 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia |
ORPHA:1368 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ... |
OMIM:617070 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... |
OMIM:616494 |
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 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Myopathy, Gliosis, Brain atrophy, Increased variability in ... |
OMIM:604377 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Babinski sign, Abnormal pyramid... |
OMIM:248500 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... |
ORPHA:119 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, A... |
OMIM:617710 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
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Resting tremor, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, ... |
OMIM:606703 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Hip dislocation, I... |
ORPHA:171436 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... |
OMIM:157640 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a... |
OMIM:614831 |
Pontocerebellar Hypoplasia, Type 2A |
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Chorea, Optic atrophy, Opisthotonus, Congenital contracture, Gliosis, Extrapyramidal dyskinesia, ... |
OMIM:277470 |
Spinocerebellar Ataxia 2 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait... |
OMIM:183090 |
Parkinson Disease 14, Autosomal Recessive |
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Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesi... |
OMIM:617481 |
Leigh Syndrome |
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Ataxia, Optic atrophy, Gliosis, CNS demyelination, Spasticity |
OMIM:256000 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination, Acanthocytosis |
OMIM:200100 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Leukodystrophy, Dystonia, Loss of ambulation, I... |
OMIM:615010 |
Muscular Dystrophy, Barnes Type |
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Myopathy, Muscular dystrophy |
OMIM:158800 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Demyelinating peripheral neuropathy, Babinski ... |
ORPHA:98 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Optic atrophy, Bradykinesia, Athetosis, Spasticity, Upper motor neuron d... |
OMIM:500001 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Demyelinating sensory neuropathy, Decreased nerve conduction velocity, Demyelinating motor neurop... |
ORPHA:99939 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Optic nerve hypoplasia, R... |
ORPHA:370959 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial m... |
OMIM:618416 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel... |
OMIM:615181 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Distal am... |
OMIM:617675 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... |
ORPHA:206559 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Cerebellar gliosis, Flexion contracture, Cerebral atrophy, Gliosis, Intrauterine growth r... |
ORPHA:79243 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Skeletal muscle atrophy, Exaggerated startle response, Hip flexor weakness, I... |
ORPHA:845 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Babinski sign, Spastic paraplegia |
ORPHA:100988 |
Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ... |
ORPHA:171881 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Eosinophilia, Hand muscle weakness, Tremor, A... |
ORPHA:99965 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation |
OMIM:619405 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... |
OMIM:606071 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Short stature, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opis... |
OMIM:619847 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Centrally nucleated skele... |
OMIM:615368 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unste... |
OMIM:616795 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Neutrophilia, Weakne... |
ORPHA:79139 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Ba... |
OMIM:300055 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness, Testi... |
OMIM:313200 |
Amyotrophy, Monomelic |
|
Upper limb muscle weakness, Interosseus muscle atrophy, Cervical spinal cord atrophy, Fasciculations |
OMIM:602440 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu... |
OMIM:616867 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Postural tremor, Upper limb amyotrophy, Distal lower l... |
ORPHA:99950 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... |
ORPHA:397744 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Failure to thrive in infancy, Flexion contracture, Spastic paraplegia, Growth del... |
OMIM:619026 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
4H Leukodystrophy |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Optic atrophy, Dysmetria, Prog... |
ORPHA:289494 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Retinal detachment, Agenesis of cerebellar vermis, Type II lissencephaly, H... |
OMIM:613153 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Growth delay, Skeletal muscle atrophy |
OMIM:618244 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... |
ORPHA:276198 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Hemiplegia/hemiparesis |
ORPHA:480 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re... |
OMIM:615960 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Skeletal muscle atrophy, Chorea, Ba... |
OMIM:164400 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Optic disc pallor, Peripheral axonal neuropathy, Mild postnatal growth r... |
ORPHA:90324 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Tremor, Growth delay, Spasticity |
OMIM:278780 |
Autosomal Recessive Spastic Paraplegia Type 5A |
|
Lower limb spasticity, Lower limb muscle weakness, Atrophy of the spinal cord, Babinski sign, Spa... |
ORPHA:100986 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Short stature, Ataxia, Tremor, Optic atrophy, Hip dislocation, Abnormal pyram... |
OMIM:614381 |
Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Ataxia, Clonus, Flexion contracture, Babinski sign, Spastic tetraplegia,... |
OMIM:300523 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Short stature, Tremor, Increased variability in muscle fiber diameter, Dysmetr... |
ORPHA:502423 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,... |
ORPHA:1344 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98863 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... |
OMIM:146500 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abno... |
ORPHA:309162 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98853 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Spastic paraplegia, Babinski sign, Abnormal CNS myelination, Difficulty... |
ORPHA:477673 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Delayed CNS myelination, Clonus, Flexion contracture, Brain atrophy, Muscle fiber atrophy, Failur... |
OMIM:620240 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Tremor, Truncal obesity, Hyp... |
OMIM:300957 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Atrophy of the spinal c... |
OMIM:256840 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand tremor, Upper limb muscle weakness... |
ORPHA:100996 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Splenomegaly, Flexion contracture, Skeletal muscle hy... |
OMIM:613327 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... |
OMIM:300623 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... |
OMIM:618877 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... |
ORPHA:206443 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi... |
ORPHA:477774 |
Rabies |
|
Vocal cord paresis, Cerebral palsy |
ORPHA:770 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal... |
OMIM:260600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Hand tremo... |
OMIM:162400 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axon... |
OMIM:252160 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Short stature, Ataxia, Delayed myelination, Flexion contracture, Abnorma... |
ORPHA:59 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Upper limb muscle weakness, Distal amyotrophy, ... |
OMIM:302802 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Onion bulb formation, Lower limb spasticity, Optic neuropathy, Tibialis ... |
ORPHA:320375 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Lymphopenia, Short stature, Ataxia, Tremor, Gait disturbance, Delayed pu... |
ORPHA:100 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Tongue fasciculations, Weakn... |
OMIM:618811 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Gait disturbance, Decreased ... |
OMIM:603472 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, CNS hypomyelination, Growth delay, Muscular dystrophy, Failure to thrive |
ORPHA:88618 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:612126 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive sp... |
ORPHA:496756 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Fasciculations... |
OMIM:614436 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Myelin outfoldings, Hand muscle weakness, Tremor, Inabil... |
ORPHA:99956 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyeli... |
ORPHA:199343 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Growth delay, Gliosis, Myoclonus,... |
OMIM:614946 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Hyp... |
ORPHA:70594 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... |
OMIM:203700 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... |
OMIM:616165 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic... |
ORPHA:255210 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger |
ORPHA:3294 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Abnormal pelv... |
ORPHA:2928 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Distal amyotrophy, S... |
ORPHA:909 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis |
ORPHA:457240 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Megaloblastic anemia, Atrophy of the spinal cor... |
ORPHA:79282 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postnatal growth retardation,... |
OMIM:615419 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multipl... |
OMIM:619334 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axonal l... |
OMIM:252150 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Skeletal muscle hypertrop... |
OMIM:602124 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
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 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Lower limb spasticity, Abnormal pyramidal sign, Optic atrophy, Progressive cerebellar ataxia, Low... |
ORPHA:1177 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Small hand, Limb myoclonus, Gait atax... |
ORPHA:3095 |
Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Growth delay,... |
OMIM:614678 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Sideroblastic anemia, Rhabdomyolysis, Myopathy, Leukopenia, Increased in... |
OMIM:255125 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Diffuse cerebral atrophy, Short stature, Ataxia, Slurred speech |
OMIM:230650 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl... |
OMIM:137440 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Failure to thrive in in... |
ORPHA:477817 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis |
ORPHA:449285 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... |
ORPHA:2821 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Skeletal muscle atrophy, Short stature, Limb joint contracture, Ataxia, Postu... |
OMIM:301072 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... |
OMIM:168600 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... |
OMIM:250460 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ... |
OMIM:614153 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Blepharospasm, Bradykinesia, Gliosis, Neuronal loss in central nervous system, ... |
ORPHA:683 |
Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Lower limb muscle weakness, Clonus, Degeneration of the lateral corticospi... |
ORPHA:100993 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Ataxia, Retinal dystrophy, Elong... |
ORPHA:370022 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Optic a... |
OMIM:615673 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98855 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Macrocytic anemia, Tremor, Dysmetria, Intrauterine growth retardation, H... |
OMIM:615578 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... |
ORPHA:254361 |
Poliomyelitis |
|
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,... |
ORPHA:2912 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Short stature, Ataxia, Tremor, Inabi... |
OMIM:615356 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic atrophy, Abnormal pyramidal sign, Brain... |
OMIM:618228 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Dyston... |
OMIM:617664 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Steppage gait, ... |
ORPHA:168563 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor... |
ORPHA:529665 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Limb muscle weakness, Weakness of facial muscul... |
ORPHA:329336 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Gait ataxia, Atrophy/Degeneration involving the spinal cord, Myoclonus,... |
ORPHA:70595 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Cerebral c... |
ORPHA:101006 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Short stature, Flexion contracture, Babinski sign, Spa... |
OMIM:275900 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Overweight, Obesity, Delayed pubert... |
OMIM:619475 |
Leigh Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary mov... |
ORPHA:506 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Spastic tetrapleg... |
ORPHA:3240 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Brain atrophy, Cerebral atrophy, Abnormal myelination |
ORPHA:85179 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Sandal gap, Short stature, Tremor, Small hand, Gait ataxia, Short f... |
OMIM:300354 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Leukodystrophy |
OMIM:616538 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Peripheral axonal neuropathy, Cachexia, Demyelinating peripheral neuropath... |
ORPHA:298 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Spastic tetra... |
ORPHA:3208 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Hypoplasia of the pons, Optic atrophy, Vocal cord paralysis, Increased cup-to... |
ORPHA:500144 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Tapered finger, Increased variability in muscle fiber diameter, Myoclonus, Type 1 muscle fiber pr... |
OMIM:612949 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Parkinsonism with favorable respon... |
ORPHA:411602 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Skeletal muscle atrophy, Optic atrophy, Short stature, Delayed puberty |
ORPHA:477814 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Babinski sign, Abnormal pyramidal sign, Progressive ... |
ORPHA:513436 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Central Core Disease |
|
Multiple joint contractures, Congenital hip dislocation, Myopathy, Type 1 muscle fiber predominan... |
ORPHA:597 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ... |
OMIM:234200 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi... |
OMIM:610217 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Short stature, Ataxia, Tremor, Splenomegaly, Flexion contracture |
ORPHA:87876 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Muscular dystrophy, Delayed puberty |
OMIM:300200 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:619422 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Myoclonus, Dysmetria |
OMIM:618251 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Opisthotonus, Muscular dystrophy, Art... |
ORPHA:2671 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Global brain atrophy |
OMIM:168601 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... |
ORPHA:79244 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Wide pubic symphysis, Sev... |
ORPHA:239 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Bab... |
ORPHA:157846 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Weight loss, Distal amyotrophy, Brain atrophy,... |
OMIM:164310 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy |
OMIM:614116 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Periodic paralysis |
ORPHA:757 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait, Ma... |
ORPHA:3077 |
Fried Syndrome |
|
Skeletal muscle atrophy, Spastic diplegia |
ORPHA:85335 |
Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degeneration, Short stature |
OMIM:162100 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:457205 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Optic atrophy, Muscular dystrophy, Metatarsus valgus, Aplasia/Hypoplasia... |
ORPHA:899 |
Lissencephaly 8 |
|
Appendicular spasticity, Cerebral hypomyelination, Optic atrophy, Skeletal muscle atrophy |
OMIM:617255 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Postnatal growth retardation, Optic atrophy, Normochromic microcytic anemia, Nonprogressi... |
OMIM:610198 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, CNS hypomyelination, Growth delay,... |
OMIM:103050 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Lower limb spasticity, Limb hypertonia, Lower limb amyotrophy, Spastic gait, Progressive spastic ... |
ORPHA:401815 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... |
OMIM:608931 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Dysmetria, Gait ataxia, Choreoathetosi... |
OMIM:604391 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... |
ORPHA:391428 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus,... |
OMIM:618321 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Cerebral cortical atrophy |
ORPHA:1192 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor ... |
OMIM:619527 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Short stature, Abnormal peripheral myelination, Ataxia, Trem... |
OMIM:216400 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... |
ORPHA:682 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... |
OMIM:616840 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy... |
ORPHA:2388 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Poor coordination, Clumsiness, Congenital fibrosis of extr... |
OMIM:157900 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Tremor, Chorea, Abnormal pyramidal... |
OMIM:606002 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Brain atrophy |
OMIM:619092 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Babinski sign, Unsteady gait, Gai... |
ORPHA:458803 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Spasticity, Brain atrophy |
OMIM:618718 |
Glioblastoma |
|
Glioblastoma multiforme, Paralysis |
ORPHA:360 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Gait ataxia, Spinocerebellar atrophy, Progressive cerebellar ataxia, Spastic dysar... |
ORPHA:95433 |
Peho Syndrome |
|
Cerebellar atrophy, Tapered finger, Optic atrophy, Myoclonus, Peripheral dysmyelination, Neuronal... |
OMIM:260565 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... |
ORPHA:1143 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Impotence, Hypogona... |
OMIM:300100 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic parap... |
ORPHA:83629 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive |
OMIM:619556 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Muscular dystrophy |
OMIM:615249 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability... |
OMIM:616866 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis |
OMIM:300215 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia |
OMIM:617162 |
Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Babinski sign, Cerebral atrophy, CNS hypomyelination, Hyperkinetic movem... |
OMIM:616420 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short humerus, Short femur, Dystonia, Ragged-red muscle fibers, Flexion ... |
ORPHA:17 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Vocal cord paralysis, Clumsin... |
OMIM:211530 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... |
ORPHA:36387 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Xeroderma Pigmentosum, Complementation Group F |
|
Short stature, Ataxia, Tremor, Flexion contracture, Brain atrophy, Decreased body weight |
OMIM:278760 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Spasticity |
ORPHA:88619 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy |
OMIM:613154 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Skeletal muscle atrophy, Delayed CNS myelination, Short stature, Temporal cortical atrophy, Spast... |
OMIM:618862 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Short stature, Congenital diaphragmatic hernia, Tremor, Growth delay, Spasticit... |
OMIM:300978 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Skeletal muscle atrophy, Short stature, Postural tremor, Corpus callosum atrophy, Babinski sign, ... |
ORPHA:447760 |
Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, Peripher... |
OMIM:618733 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Gait disturbance,... |
OMIM:609286 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Dysmet... |
ORPHA:88644 |
Schindler Disease, Type I |
|
Spasticity, Optic atrophy, Generalized amyotrophy, Myoclonus |
OMIM:609241 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, S... |
ORPHA:98673 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Spastic tetraplegia, Growth ... |
OMIM:605013 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Gait ataxia, Spa... |
ORPHA:352641 |
Cockayne Syndrome B |
|
Severe short stature, Small for gestational age, Abnormal peripheral myelination, Ataxia, Postnat... |
OMIM:133540 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2 |
|
Growth delay, Skeletal muscle atrophy, Oculomotor apraxia, Short stature |
OMIM:619759 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Acute rhabdomyolysis, Rhabdomyolysis, Poor coordination, Spastic tetraplegia, Cer... |
OMIM:616878 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Rigidity, Skeletal muscle atrophy, Ataxia |
OMIM:618239 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Small for gestational age, Ataxia, Tremor, Dysmetria, Gliosis, Truncal ataxia, Left ven... |
OMIM:220111 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy, Severe short stature |
ORPHA:3239 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Babinski sign, Flexion contracture, Optic atroph... |
OMIM:609541 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy |
OMIM:607485 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Arachnodactyly, Camptodactyly of finger, Metatarsu... |
ORPHA:2461 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Tremor, Ragged-red muscle fib... |
OMIM:607426 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Abnorma... |
ORPHA:297 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Short stature, Hypertonia, Myoclonus, Abnormal myelination |
ORPHA:289266 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral cortical atrop... |
ORPHA:1020 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Distal amyotrophy, Oculomotor apraxia, Frequent falls |
OMIM:615217 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Corpus callosum atrophy, Ba... |
OMIM:617339 |
Madras Motor Neuron Disease |
|
Facial palsy, Babinski sign, Optic atrophy, Limb fasciculations, Distal amyotrophy |
ORPHA:137867 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis, Weight loss |
OMIM:188580 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:618393 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Short stature, Ataxia, Poor coordination, Limb ataxia, Spasticity |
OMIM:617695 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemi... |
ORPHA:217260 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... |
ORPHA:765 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Short stature, Ataxia, Tremor, Splenomegaly, Slurred speech, Gait distur... |
ORPHA:812 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Skeletal muscle atrophy, Optic disc pallor, Hemolytic anemia, Macrocytic anemi... |
OMIM:615512 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Granulovacuolar degeneration, Bradykines... |
OMIM:609454 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Dystonia, Rhizomelia, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, ... |
OMIM:616271 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... |
ORPHA:268882 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol... |
ORPHA:713 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Failure to thrive, Decrea... |
ORPHA:370079 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Cerebral atrophy, Opisthoto... |
OMIM:619272 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Gm1 Gangliosidosis |
|
Tremor, Decerebrate rigidity, Short stature, Ataxia, Hepatosplenomegaly, Abnormal diaphysis morph... |
ORPHA:354 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Short stature, Tremor, Abnormality of the spleen, Syringomyelia, Clinoda... |
ORPHA:94063 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Congenital Disorder Of Deglycosylation 1 |
|
Delayed CNS myelination, Facial hypotonia, Involuntary movements, Delayed myelination, Chorea, In... |
OMIM:615273 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Limb joint contracture, Short stature, Delayed puberty, Upper motor neur... |
OMIM:612079 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Facial hypotonia, Limb joint contracture, Delayed myelinat... |
ORPHA:404454 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Short stature |
ORPHA:2013 |
Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Distal amyotrophy, Leukodystrophy, Delayed ... |
OMIM:614871 |
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 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Optic atrophy, ... |
OMIM:601152 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Cerebral atrophy, D... |
ORPHA:572798 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Inability to walk, Abnormality of skeletal muscle fiber s... |
ORPHA:168572 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism |
OMIM:606688 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Gait disturbance... |
ORPHA:1803 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Abnormal muscle fiber morphology, Abnormal ... |
ORPHA:3068 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overlapping fingers, Femoral bowing, Macroglossia, Short long bone, Hypoplasia of th... |
OMIM:617022 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Tremor, Babinski si... |
ORPHA:447753 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Short stature, Ataxia |
ORPHA:1933 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, H... |
OMIM:620089 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Hypertonia, Gliosis, In... |
ORPHA:191 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Hemolytic anemia, Viral infection-induced... |
ORPHA:57 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Gliosis, Increased intramyocellular li... |
ORPHA:26791 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... |
ORPHA:79102 |
Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore... |
OMIM:612164 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Leukopenia, Cortic... |
ORPHA:1328 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... |
ORPHA:254892 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... |
OMIM:618056 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Splenomegaly |
ORPHA:2348 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus |
OMIM:619424 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Ulnar deviation of the 3rd finger, Short stature, Ataxia, Proximal placement ... |
OMIM:616263 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber size, Skeletal ... |
ORPHA:79083 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... |
OMIM:617988 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Hypertonia, Short stature, Ataxia |
ORPHA:31 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Spina bifida occulta |
ORPHA:2840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Muscular dystrophy, Adducted thumb |
OMIM:614643 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impotence, Abnorma... |
OMIM:105210 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Gait imbalance, Abnormal aut... |
ORPHA:2828 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
L1 Syndrome |
|
Skeletal muscle atrophy, Spasticity, Aganglionic megacolon, Hemiplegia/hemiparesis |
ORPHA:275543 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Short stature, Growth delay, Myopathy, Muscular dystrophy |
OMIM:307030 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertonia, Opisthotonus |
OMIM:616896 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Short stature, Cerebral atrophy, Facial diplegia, Athetosis, Hyperkineti... |
OMIM:612073 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... |
OMIM:620327 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetraparesis, Brain atrop... |
OMIM:617186 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Incr... |
OMIM:232800 |
Niemann-Pick Disease, Type A |
|
Skeletal muscle atrophy, Delayed CNS myelination, Short stature, Rigidity, Athetosis, Spasticity |
OMIM:257200 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Rhabdomyosarcoma, Acute lymphoblastic leukemia, Growth delay, Muscular dystrophy, ... |
ORPHA:1052 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Growth delay, Skeletal muscle atrophy, Joint contracture, Delayed puberty |
OMIM:615704 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Broad-based gait... |
OMIM:256810 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy, Short stature |
OMIM:221350 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Jo... |
OMIM:615919 |
Choreoacanthocytosis |
|
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate... |
OMIM:200150 |
Amyotrophic Dystonic Paraplegia |
|
Skeletal muscle atrophy, Spastic paraplegia |
OMIM:105300 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:157973 |
Joubert Syndrome 23 |
|
Polydactyly, Cerebellar dysplasia |
OMIM:616490 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Orthostatic hypotension, Exaggerated startle response, Ataxia, CNS hypom... |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, Optic atrophy, Facial diplegia, Facial paralysis |
OMIM:613559 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope... |
OMIM:214500 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonu... |
OMIM:614969 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature |
ORPHA:254875 |
Rett Syndrome |
|
Skeletal muscle atrophy, Short stature, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Ce... |
OMIM:312750 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Growth delay, Fa... |
ORPHA:496641 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Decreased muscle mass, Cerebral dysmyelination, Decreased nerve conduction ve... |
OMIM:261515 |
Cog8-Cdg |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Myoclonus, Atrophy/Degeneration affecting th... |
ORPHA:95428 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Optic nerve dysplasia, Hydromyelia, Muscular dystrophy |
OMIM:615287 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:98896 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukody... |
ORPHA:646 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Skeletal muscle atrophy, Delayed CNS myelination |
OMIM:618603 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Overlapping toe, Adducted thumb, Cutaneous syndactyly, Gray matter heterotop... |
OMIM:617822 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Skeletal muscle atrophy, Short stature, Babinski sign, Slurred speech, Growth del... |
ORPHA:101000 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Short stature, Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chroni... |
OMIM:612780 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping sho... |
ORPHA:85293 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Muscular dystrophy |
ORPHA:300751 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n... |
ORPHA:478029 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Short stature, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Postnat... |
OMIM:612199 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... |
ORPHA:206572 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metacarpal, Toe syndactyly, Short stature, Periodic paralysis, Short meta... |
OMIM:170390 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171430 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Skeletal muscle atrophy |
ORPHA:85283 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy |
ORPHA:371 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Flexion contracture, Oromotor a... |
ORPHA:98889 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Short stature, Splenomegaly, Increased variability in muscle fiber diameter, M... |
OMIM:611881 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Rhabdomyolysis, Growth delay, Delayed puberty, Failure to thrive |
OMIM:263800 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy |
OMIM:254950 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Lower limb spasticity, Delayed myelination, Flexion contracture, Elbow flexion c... |
OMIM:300868 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Limited mobility of pr... |
OMIM:222300 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Ataxia, Severe demyelination of the white matter, Flexion contracture, C... |
ORPHA:481152 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Rhabdomyolysis, Hypogonadism, Ataxia |
ORPHA:79095 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Gliosis |
ORPHA:261652 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures |
ORPHA:2028 |
Léri-Weill Dyschondrosteosis |
|
Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... |
ORPHA:240 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Ce... |
OMIM:124000 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy |
ORPHA:2400 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Ataxia, Cerebral atrophy, G... |
OMIM:615471 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, Delayed my... |
OMIM:615574 |
Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormal pelvic girdle bone morphology, Facial paralysis, Facial palsy |
OMIM:166600 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia |
OMIM:618578 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Short stature, Slurred speech, Dysmetria, Myoclonus |
OMIM:256550 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Growth delay, Paralysis |
OMIM:242100 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Waddling gait, Delayed CNS myelination, Facial hypotonia, Sandal gap, Tremor, Long... |
OMIM:617557 |
Ataxia-Telangiectasia |
|
Lymphopenia, Dystonia, Short stature, Ataxia, Tremor, Inability to walk, Slurred speech, Acute ly... |
OMIM:208900 |
Camurati-Engelmann Disease, Type 2 |
|
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Delayed puberty |
OMIM:606631 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Delayed CNS myelination, Skeletal muscle atrophy, Short stature, Ataxia, Flexi... |
OMIM:300232 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Atrophy of the spinal cord, Paraparesis, Generaliz... |
ORPHA:2822 |
Neutral Lipid Storage Myopathy |
|
Short stature, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscl... |
ORPHA:98908 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:2047 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Short stature, Delayed peripheral myelination, Tapered finger, Mesom... |
OMIM:605039 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Delayed CNS myelination, Short stature, Babinski sign, Cerebral atrophy,... |
OMIM:615802 |
Melas |
|
Peripheral axonal neuropathy, Abnormal central motor function, Short stature, Ataxia, Ragged-red ... |
ORPHA:550 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination, Short stature, Growth delay, Camptodactyly, Intrauterine growth retardation |
OMIM:617333 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Optic nerve hypoplasia, Flexion contracture, Disproportionate short st... |
OMIM:222765 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Growth delay, Intrauterine growth retardation, Cerebral atrophy, Skeletal muscle atrophy |
OMIM:245400 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology |
ORPHA:142 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Crome Syndrome |
|
Renal tubular epithelial necrosis, Cerebellar dysplasia |
OMIM:218900 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... |
ORPHA:94080 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Bowing of the legs, Spinal cord compression, Trapezo... |
OMIM:307800 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Ragged-red muscle fibers, Short stature, Ataxia |
OMIM:530000 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Delayed CNS myelination, Spastic tetraparesis, Babinski sign, Ragged-red muscle fibers, Bradykine... |
OMIM:614924 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Growth delay, Skeletal muscle atrophy, Short stature, Contractures of the large joints |
OMIM:616716 |
Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... |
ORPHA:447788 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Flexion contracture, Hyperkinetic movements,... |
OMIM:300243 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Agyria, Retinal atrophy, Optic nerve hypoplasia, Type II lissencephaly, Optic... |
OMIM:236670 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Periodic hypoka... |
ORPHA:37553 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Muscular dystrophy |
ORPHA:158684 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Polymyositis |
|
Weight loss, Gait disturbance, Abnormal muscle fiber morphology |
ORPHA:732 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Facial palsy, Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Cl... |
OMIM:123000 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Chiari type I malformation, Abnormal... |
ORPHA:221098 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athet... |
ORPHA:25 |
Papillorenal Syndrome |
|
Optic disc coloboma, Short stature, Gliosis |
OMIM:120330 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Splenom... |
OMIM:252010 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Arthrogryposis multipl... |
OMIM:618291 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Skeletal muscle atrophy, Spina bifida occulta |
ORPHA:230839 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Short stature, Myopathy |
ORPHA:85329 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Foot joint contracture, Ataxia, Postnatal growth retardation, Tremor, Opti... |
ORPHA:90321 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Renpenning Syndrome |
|
Growth delay, Skeletal muscle atrophy, Severe short stature |
ORPHA:3242 |
Cartilage-Hair Hypoplasia |
|
Short palm, Metaphyseal dysplasia, Bowing of the long bones, Abnormal distal phalanx morphology o... |
ORPHA:175 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Tremor, Delayed myelination, Distal arthrogryposi... |
ORPHA:506358 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Spasticity, Optic atrophy, Muscular dystrophy, Myoclonus |
OMIM:253280 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Leukodystroph... |
ORPHA:51 |
Kallmann Syndrome |
|
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased fertility, ... |
ORPHA:478 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy |
ORPHA:970 |
Kennedy Disease |
|
Skeletal muscle atrophy |
ORPHA:481 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Optic atrophy, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spas... |
OMIM:618476 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Cerebral ... |
OMIM:614080 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity |
ORPHA:85323 |
Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Fasciculations |
ORPHA:2942 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Distal arthrogryposis, Ataxia, Myopathy |
ORPHA:42 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Abnormality of the autonomic ner... |
ORPHA:43116 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... |
ORPHA:167 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Optic atrophy, O... |
OMIM:614947 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombo... |
OMIM:613179 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Pancytopenia, Broad-based gait, Cachexia, Paralysis, Abnormality of t... |
ORPHA:2072 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Short stature, Shoulder flexion contracture, Quadriceps... |
OMIM:255800 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Short stature |
ORPHA:1486 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle hypertrophy, Skeletal muscle atrophy |
OMIM:608390 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Growth delay, Skeletal muscle atrophy, Flexion contracture, Short stature |
ORPHA:75496 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Skeletal muscle atrophy |
OMIM:300614 |
Trisomy 17P |
|
Skeletal muscle atrophy, Short stature, Flexion contracture, Growth delay, Macroglossia, Hyperton... |
ORPHA:261290 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Skeletal muscle atrophy |
OMIM:616828 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Small for gestational age, Short stature, Ataxia, Inab... |
OMIM:617799 |
Facioscapulohumeral Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:269 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... |
ORPHA:367 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait disturban... |
ORPHA:512 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Dpagt1-Cdg |
|
Arachnodactyly, Ataxia, Akinesia, Tremor, Inability to walk, Flexion contracture, Optic atrophy, ... |
ORPHA:86309 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short stature, Ataxia, CNS hypomyelination, Hypertonia, Gliosis, Intrauterine growth retardation,... |
ORPHA:268261 |
Melorheostosis |
|
Skeletal muscle atrophy |
ORPHA:2485 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Gliosis |
OMIM:618222 |
Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Decreased muscle mass, Chiari malformation, Abnormal ilia... |
ORPHA:3027 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Skeletal muscle atrophy, Hemiplegia/hemiparesis |
ORPHA:156 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Osteolytic defects of the phalanges of th... |
OMIM:201300 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor,... |
ORPHA:3385 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Unilateral vocal cord paresis, Tethered cord, Short stature, Spinal dysraphism |
OMIM:617660 |
Diets-Jongmans Syndrome |
|
Short stature, Gliosis, Congenital diaphragmatic hernia |
OMIM:618846 |
7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis, Postnatal growth retardation, Intrauterine ... |
ORPHA:251061 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... |
ORPHA:368 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Skeletal muscle atrophy, Short stature, Delayed myelination, Cerebral atrophy... |
OMIM:608779 |
Refsum Disease |
|
Skeletal muscle atrophy, Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis |
ORPHA:773 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Oculomotor apraxia, Short stature, Abnormal myelination |
ORPHA:67045 |
Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy |
OMIM:617143 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... |
ORPHA:1358 |
Helsmoortel-Van Der Aa Syndrome |
|
Intrauterine growth retardation, Gliosis, Short stature, Facial palsy |
OMIM:615873 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression, Short stature |
OMIM:259730 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Delayed CNS myelination, Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Hype... |
OMIM:616539 |
Sézary Syndrome |
|
Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
Rett Syndrome |
|
Bradykinesia, Skeletal muscle atrophy, Abnormal autonomic nervous system physiology, Limb apraxia |
ORPHA:778 |
Donohue Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Skeletal muscle atrophy |
OMIM:246200 |
Meier-Gorlin Syndrome 1 |
|
Short palm, Failure to thrive, Small for gestational age, Coxa valga, Aplasia/Hypoplasia of the p... |
OMIM:224690 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Skeletal muscle atrophy, Short stature |
ORPHA:127 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... |
OMIM:605373 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Tremor, Delayed myelination, Choreoatheto... |
ORPHA:1934 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Short stature, Optic atrophy, Hypertonia, Progressive spasticity, Cerebr... |
ORPHA:192 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:607598 |
Farber Disease |
|
Skeletal muscle atrophy, Short stature, Paraparesis, Flexion contracture, Myoclonus, Brain atroph... |
ORPHA:333 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:232500 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Short stature, Postnatal growth retardation, Limb-girdle muscle weakness... |
ORPHA:79240 |
Distal Renal Tubular Acidosis |
|
Growth delay, Short stature, Paralysis |
ORPHA:18 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Cerebral atrophy |
OMIM:614300 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Skeletal muscle atrophy, Short stature |
OMIM:616200 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination, Aplasia of the distal phalanx of the 5th toe, Aplasia of the dist... |
ORPHA:364577 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Knee flexion contracture |
ORPHA:435638 |
Becker Muscular Dystrophy |
|
Skeletal muscle atrophy |
ORPHA:98895 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Growth... |
OMIM:254940 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Short stature |
ORPHA:110 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Joint contracture, Gliosis, Camptodactyly |
OMIM:617403 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the abdomi... |
ORPHA:2990 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Gitelman Syndrome |
|
Rhabdomyolysis, Paralysis, Delayed puberty |
ORPHA:358 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Short stature |
OMIM:614856 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Short stature, Myopathy |
OMIM:619743 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Short stature, Unilateral vocal cord paralysis, Cerebral atrophy, Growth dela... |
OMIM:301030 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Knee flexion contracture |
OMIM:603387 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture |
OMIM:619183 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Severe short stature, Camptodactyly of ... |
ORPHA:2215 |
Monosomy 18Q |
|
Astrocytoma, Short stature, Poor coordination, Growth delay, Choreoathetosis, Abnormal myelination |
ORPHA:1600 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Flexion contracture, Neurodegeneration, Papilledema |
OMIM:309900 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Cerebral palsy, Opisthotonus |
OMIM:210210 |
Recon Progeroid Syndrome |
|
Growth delay, Skeletal muscle atrophy, Short stature |
OMIM:620370 |
Singleton-Merten Syndrome 1 |
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Waddling gait, Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Hip subluxation, H... |
OMIM:182250 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers, Growth delay, Incoordination |
OMIM:223900 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
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Unilateral vocal cord paralysis, Optic atrophy, Flexion contracture of the 2nd finger, Joint cont... |
ORPHA:324540 |
Camurati-Engelmann Disease |
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Skeletal muscle atrophy, Cranial nerve compression, Optic nerve compression, Delayed puberty |
OMIM:131300 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Skeletal muscle atrophy, Short stature, Increased sarcoplasmic glycogen, Growth delay, Delayed pu... |
ORPHA:264580 |
Mucopolysaccharidosis Type 3 |
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Vocal cord paresis, Ataxia, Flexion contracture, Optic atrophy, Abnormal pyramidal sign, Central ... |
ORPHA:581 |
Schinzel-Giedion Syndrome |
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Failure to thrive in infancy, Overlapping toe, Ependymoma, Hypoplastic pubic bone, Vocal cord par... |
ORPHA:798 |
Frontometaphyseal Dysplasia 1 |
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Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... |
OMIM:305620 |
Arthrogryposis And Ectodermal Dysplasia |
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Skeletal muscle atrophy, Short stature, Camptodactyly, Arthrogryposis multiplex congenita, Joint ... |
OMIM:601701 |
Werner Syndrome |
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Skeletal muscle atrophy, Short stature |
ORPHA:902 |
Mucopolysaccharidosis, Type Vii |
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Macroglossia, Flexion contracture, Neurodegeneration, Diastasis recti |
OMIM:253220 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Skeletal muscle atrophy, Myositis |
OMIM:615934 |
Tyrosinemia, Type I |
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Growth delay, Periodic paralysis |
OMIM:276700 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Skeletal muscle atrophy |
OMIM:219080 |
Congenital Myopathy 13 |
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Skeletal muscle atrophy, Short stature, Fatty replacement of skeletal muscle, Flexion contracture... |
OMIM:255995 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Schwartz-Jampel Syndrome |
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Hip contracture, Skeletal muscle atrophy, Short stature, Shoulder flexion contracture, Skeletal m... |
ORPHA:800 |
Hurler Syndrome |
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Macroglossia, Flexion contracture, Neurodegeneration |
OMIM:607014 |
Tbck-Related Intellectual Disability Syndrome |
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Macroglossia, Skeletal muscle atrophy, Diastasis recti, Global brain atrophy |
ORPHA:488632 |
Graft Versus Host Disease |
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Skeletal muscle atrophy, Myositis, Dupuytren contracture |
ORPHA:39812 |
Hereditary Folate Malabsorption |
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Skeletal muscle atrophy |
ORPHA:90045 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Skeletal muscle atrophy, Short stature, Flexion contracture, Optic atrophy, Poor coordination, Ce... |
OMIM:309590 |
Moebius Syndrome |
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Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni... |
ORPHA:570 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Growth delay, Skeletal muscle atrophy |
OMIM:615895 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Growth delay, Skeletal muscle atrophy, Flexion contracture, Delayed puberty |
ORPHA:89842 |
Localized Scleroderma |
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Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Duane Retraction Syndrome |
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Blepharospasm, Skeletal muscle atrophy, Spina bifida occulta, Camptodactyly |
ORPHA:233 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers |
OMIM:256800 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Skeletal muscle atrophy, Short stature, Myopathy |
ORPHA:109 |
Aprosencephaly And Cerebellar Dysgenesis |
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Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia |
OMIM:601374 |
Pituitary Adenoma 4, Acth-Secreting |
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Skeletal muscle atrophy |
OMIM:219090 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Periodic hypokalemic paresis, Delayed puberty |
ORPHA:91347 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Skeletal muscle atrophy, Short stature |
ORPHA:1969 |
Nijmegen Breakage Syndrome |
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Skeletal muscle atrophy, Short stature, Rhabdomyosarcoma, Glioma |
ORPHA:647 |
Immunodeficiency 31C |
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Growth delay, Skeletal muscle atrophy, Short stature, Delayed puberty |
OMIM:614162 |
Pontocerebellar Hypoplasia Type 7 |
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Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati... |
ORPHA:284339 |
Degcags Syndrome |
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Intrauterine growth retardation, Diaphragmatic eventration, Vocal cord paralysis, Abnormal myelin... |
OMIM:619488 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Skeletal muscle atrophy, Cerebral atrophy |
OMIM:618252 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Poo... |
ORPHA:273 |
Igg4-Related Thyroid Disease |
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Vocal cord paralysis |
ORPHA:64744 |
Nijmegen Breakage Syndrome |
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Premature ovarian insufficiency, Neurodegeneration, Rhabdomyosarcoma |
OMIM:251260 |
Codas Syndrome |
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Vocal cord paresis, Short stature |
OMIM:600373 |
Esophageal Atresia |
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Growth delay, Vocal cord paresis, Hypertonia |
ORPHA:1199 |
Cystinosis, Nephropathic |
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Skeletal muscle atrophy, Short stature, Cerebral atrophy, Growth delay, Myopathy, Delayed puberty |
OMIM:219800 |
Lysinuric Protein Intolerance |
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Skeletal muscle atrophy, Short stature |
OMIM:222700 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Flexion contracture, Elbow flexi... |
OMIM:256040 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Skeletal muscle atrophy, Short stature, Myopathy |
ORPHA:536545 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Ataxia, Bilateral crypt... |
OMIM:259050 |
Leprosy |
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Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous sys... |
ORPHA:548 |
Leprechaunism |
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Postnatal growth retardation, Skeletal muscle atrophy, Severe intrauterine growth retardation |
ORPHA:508 |
Marfan Syndrome |
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Skeletal muscle atrophy, Dural ectasia |
ORPHA:558 |
Feingold Syndrome 1 |
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Vocal cord paralysis |
OMIM:164280 |
Stickler Syndrome |
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Macroglossia, Skeletal muscle atrophy, Short stature, Hemiplegia/hemiparesis |
ORPHA:828 |
Williams-Beuren Syndrome |
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Incoordination, Short stature, Poor coordination, Flexion contracture, Vocal cord paralysis, Intr... |
OMIM:194050 |
Idiopathic Hypereosinophilic Syndrome |
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Skeletal muscle atrophy |
ORPHA:3260 |
Atypical Werner Syndrome |
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Skeletal muscle atrophy, Short stature, Calf muscle hypertrophy, Delayed puberty, Abnormality of ... |
ORPHA:79474 |
Pierson Syndrome |
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Skeletal muscle atrophy |
OMIM:609049 |
Orofaciodigital Syndrome Type 14 |
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Abnormal myelination |
ORPHA:434179 |