Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Optic Atrophy 2 |
|
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign |
OMIM:311050 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy... |
OMIM:611228 |
Null Syndrome |
|
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Decreased... |
ORPHA:280234 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Spasticity, Spastic paraplegia, Inability to walk, Abnormality of peripheral nerve... |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... |
OMIM:601098 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... |
ORPHA:206594 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... |
OMIM:158580 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Tethered cord, Filum terminale lipoma |
OMIM:618351 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Axonal degeneration/regener... |
OMIM:609260 |
Leukodystrophy, Hypomyelinating, 18 |
|
Spasticity, Failure to thrive, Decreased nerve conduction velocity, Abnormal motor nerve conducti... |
OMIM:618404 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Abnormal nerve conduction velocity, Falls, Difficulty walking, Decreased nerve conduction velocit... |
ORPHA:2932 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Difficulty walking, Decreased compound muscle action potential amplitude, Babinski sign, Chaddock... |
OMIM:619112 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Hypertrophic nerve changes, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Hereditary Motor And Sensory Neuropathy V |
|
Spasticity, Decreased motor nerve conduction velocity, Difficulty walking, Peripheral axonal neur... |
OMIM:600361 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Babinski sign,... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... |
OMIM:118210 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Optic atrophy, Slender long bone, Joint hypermobility, Epicanthus, Ptosis, Short... |
ORPHA:1185 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Difficulty walking, Axonal regeneration, Decreased sen... |
OMIM:608323 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... |
ORPHA:401840 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral hypomyelination, Paraly... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Broad-based gait, Decreased motor nerve conduction velocity, Basal lamina oni... |
OMIM:614895 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Slender long bone, Tip-toe gait, Abnormal foot morphology, Absent Achilles reflex, Pes cavus, Mot... |
ORPHA:488333 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Decreased motor nerve conduction velocity, Difficulty walking, Inability to ... |
ORPHA:101077 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Fasciculations, Decreased nerve conduction velocity, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, ... |
OMIM:607706 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:615411 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor, Clusters of axonal regeneration, Decreased num... |
OMIM:607734 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Inability to walk, Decreased ... |
ORPHA:99939 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Difficulty walking, Decreased nerve conduction velocity, Steppage gait, Hand tremor |
ORPHA:352675 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Froment sign, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... |
OMIM:162500 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased amplitude of sensory action potentials, Failure to thrive in infancy, Decreased nerve c... |
ORPHA:90103 |
Three M Syndrome 1 |
|
Short 5th finger, Small for gestational age, Growth delay, Slender long bone, Postnatal growth re... |
OMIM:273750 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Gait disturbance, Tremor, Ataxia |
ORPHA:101078 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609311 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Charcot-Marie-Tooth Disease Type 4A |
|
Vocal cord paresis, Inability to walk, Decreased nerve conduction velocity, Chronic axonal neurop... |
ORPHA:99948 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B... |
OMIM:249900 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... |
OMIM:619279 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Lissencephaly 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:607432 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... |
OMIM:614561 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Steppage gait, Decreased motor nerve conduction velocity, Fasciculations |
OMIM:606595 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio... |
OMIM:605253 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Slender long bone, Flared metaphysis, Camptodactyly of finger, Failure to thrive in infancy, Elbo... |
OMIM:610758 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Spasticity, Difficulty walking, Abnormality of peripheral nerve conduction, Abnormality of extrap... |
ORPHA:101001 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Limitation of joint mobility, Slender long bone, Hypoplastic pelvis, Gait disturbance, Spina bifi... |
ORPHA:2840 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Steppage gait, Decreased motor nerve conduction velocity, Onion bul... |
OMIM:610100 |
Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... |
ORPHA:93323 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Difficulty walking, Decreased motor nerve conduction velocity, Fasciculations |
OMIM:615575 |
Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Fasciculations, Decreased compound muscle action poten... |
OMIM:600882 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Difficulty walking, Postural tremor, Limb ataxia, Gait... |
ORPHA:3115 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Gait disturbance, Tremor, Ataxia |
ORPHA:101075 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Broad-based gait, Tip-toe gait, Difficulty walking, Decreased nerve conduction velocity, Gait imb... |
ORPHA:435387 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... |
ORPHA:2774 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Incoordination, Difficulty ... |
OMIM:302800 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Decreased motor nerv... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Basal lamina onion bulb fo... |
OMIM:214400 |
Leukodystrophy, Hypomyelinating, 2 |
|
Optic atrophy, Progressive spasticity, Spastic paraparesis, Decreased motor nerve conduction velo... |
OMIM:608804 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Gait imbalance, Gait disturbance, Acute demyelinating ... |
ORPHA:101081 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement |
OMIM:615377 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... |
OMIM:613608 |
Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Slender long bone, Intrauterine growth retardation, Bowing of the long... |
OMIM:619795 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Squalene Synthase Deficiency |
|
Slender long bone, Retrognathia, Failure to thrive in infancy, Elbow flexion contracture, Intraut... |
OMIM:618156 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Stepp... |
OMIM:607684 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... |
ORPHA:276435 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... |
OMIM:118651 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Decreased nerve conduction velocity |
ORPHA:868 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Abnormal CNS mye... |
ORPHA:206443 |
Marshall-Smith Syndrome |
|
Optic atrophy, Slender long bone, Retrognathia, Failure to thrive, Increased susceptibility to fr... |
ORPHA:561 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Epiphyseal stippling, S... |
OMIM:600121 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Optic atrophy, Spasticity, Osteopenia, Slender long bone, Telecanthus, Malar flattening, Joint hy... |
OMIM:618590 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Central apnea, Hypertonia, Ataxia... |
ORPHA:71277 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Babinski sign, Decreased compound muscle action potential amplitude, Decreased motor nerve conduc... |
OMIM:605726 |
Folinic Acid-Responsive Seizures |
|
Optic atrophy, Broad-based gait, Respiratory distress, EEG with generalized slow activity, Chorea... |
ORPHA:79097 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Difficulty walking, Decreased motor nerve conduction velocity |
OMIM:620111 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Decreased number o... |
OMIM:618184 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Sensory axonal neuropa... |
ORPHA:139578 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Decreased moto... |
OMIM:601596 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Epicanthus, Pes planus,... |
ORPHA:457395 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... |
OMIM:210720 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Inability to walk, Decreased nerve conduction velocity,... |
ORPHA:457205 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Difficulty walking, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... |
OMIM:618912 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Disproportionate short-limb short stature, Short tibia, Stillbirth, Aplasia/Hypopl... |
OMIM:200700 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance |
ORPHA:99944 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Dystonia, Choreoathetosis, Leukodystrophy |
OMIM:614932 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Spasticity, Decreased nerve conduction velocity, Dysmetria, Babinski sign, Demyeli... |
OMIM:612674 |
Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... |
ORPHA:1106 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Steppage gait, Decreased motor nerve conduction velocity |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axonal degeneration/rege... |
OMIM:614436 |
Microlissencephaly |
|
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... |
ORPHA:1083 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Gait disturbance, Ataxia |
ORPHA:99014 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Steppage gait, Decreased motor nerve conduction velocity |
OMIM:607678 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy, Tremor, Ataxia |
OMIM:619099 |
Amyotrophic Lateral Sclerosis 11 |
|
Upper motor neuron dysfunction, Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity... |
OMIM:218000 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Loss of ambulation, Gait disturbance, Onion bulb formation, ... |
OMIM:615284 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Steppage gait |
OMIM:302802 |
Malan Overgrowth Syndrome |
|
Optic disc pallor, Downslanted palpebral fissures, Slender long bone, Episodic ataxia |
ORPHA:420179 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Inab... |
ORPHA:99950 |
Krabbe Disease |
|
Optic atrophy, Failure to thrive, Decreased nerve conduction velocity, Peripheral demyelination, ... |
OMIM:245200 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Lower limb spasticity, Limb tr... |
ORPHA:401820 |
Monomelic Amyotrophy |
|
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul... |
ORPHA:65684 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Hypertrophic nerve changes, Tongue fasciculations, Broad-based gait, Decreased motor nerve conduc... |
OMIM:145900 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... |
OMIM:606777 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, To... |
OMIM:619862 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Decreased number of sternal ossification centers, Natal tooth, Slender long bone,... |
OMIM:234100 |
Megabladder, Congenital |
|
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... |
OMIM:618719 |
Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Retrognathia, Micrognathia, Decreased calvarial ossification, Decreased body w... |
OMIM:618265 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia |
OMIM:617018 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Spastic paraplegia, Spasticity, Spastic paraparesis, Failure to thrive, Decreased nerve conductio... |
OMIM:238970 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... |
OMIM:118220 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Hand tremor, Difficulty walking, Peripheral demyelination, Decreased compound muscle action poten... |
OMIM:618279 |
Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Neonatal short-limb short stature, Disproportionate short-limb short s... |
OMIM:259420 |
Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Weight loss, V... |
ORPHA:221098 |
Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... |
ORPHA:3095 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Intrauterine growth retard... |
ORPHA:50811 |
Huntington Disease-Like 2 |
|
Involuntary movements, Chorea, Parkinsonism, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Myoclonus, EEG with polyspike wave complexes, Tremor, Enhancemen... |
OMIM:615127 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Small hand, Toe syndactyly, Periodic hypokalemic paresis, Micrognathia, Blepharophimosis, Short f... |
OMIM:170390 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity, Dysmetria, Ankle clonus, Babinski sign, Ataxia, Unsteady gait |
OMIM:159550 |
Three M Syndrome 3 |
|
Slender long bone, Decreased body weight, Joint hypermobility, Prominent calcaneus, Hip dysplasia... |
OMIM:614205 |
Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Failure to thrive, Decreased skull ossification, Brachydact... |
OMIM:602361 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... |
ORPHA:1486 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral demyelination, Gait imb... |
ORPHA:99953 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Peripheral axonal neuropathy, Babinski sign, Ataxia |
OMIM:611105 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Failure to thrive, Decreased nerve conduction velocity, Myoclonus, Intention tremor, Dysmetria, B... |
OMIM:618356 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati... |
OMIM:615490 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Gait disturbance, Steppage gait, Axonal loss |
OMIM:118300 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Tremor, Rigidity, Gait disturbance, Ataxia, Decreased ... |
OMIM:603472 |
Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Axona... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... |
OMIM:118200 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, S... |
OMIM:619598 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Slender long bone, Retrognathia, Downslanted palpebral fissure... |
OMIM:212066 |
Bilateral Polymicrogyria |
|
Pseudobulbar paralysis, Micrognathia, Spastic hemiparesis, Facial diplegia, Abnormal glossopharyn... |
ORPHA:268940 |
Lissencephaly 3 |
|
Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,... |
OMIM:611603 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... |
OMIM:606353 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor, D... |
ORPHA:90117 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Fasc... |
OMIM:616688 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination |
OMIM:616287 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... |
ORPHA:73230 |
Stxbp1-Related Encephalopathy |
|
EEG with abnormally slow frequencies, Spasticity, Inability to walk, Tremor, Hypsarrhythmia, Atax... |
ORPHA:599373 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma |
OMIM:613641 |
Alazami Syndrome |
|
Short palpebral fissure, Sparse eyebrow, Slender long bone, Postnatal growth retardation, Malar f... |
ORPHA:319671 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Tremor, Hereditary Essential, 6 |
|
Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ... |
OMIM:127300 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Inability to walk, Hypsarrhythmia, Delayed myelination, Spastic diplegia |
OMIM:617830 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Failure to thrive, Decreased nerve conduction velocity, Limb dystonia, Delayed myelination, Chore... |
ORPHA:319514 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Spastic gait, Babinski sign, Postural tremor, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Dystonia, Athetosis |
OMIM:300857 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Spastic paraplegia, Decreased motor nerve conduction velocity, Postural tremor, Babinski sign, Lo... |
OMIM:270685 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Carious teeth, Slender long bone, Intrauterine growth retardation, Decreased skull os... |
OMIM:244460 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Decreased compound muscle action potential amplitude, Compound muscle action poten... |
OMIM:616040 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Spasticity, Spastic gait, Decreased motor nerve conduction velocity, Falls, Progressive truncal a... |
OMIM:270550 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Optic atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation... |
ORPHA:99947 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Intr... |
ORPHA:1972 |
Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, Talipes, Talipes equ... |
OMIM:108720 |
Marshall-Smith Syndrome |
|
Hypoplasia of the odontoid process, Prominence of the premaxilla, Decreased body weight, Bullet-s... |
OMIM:602535 |
3M Syndrome |
|
Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Delayed eruption o... |
ORPHA:2616 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... |
OMIM:604563 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
Congenital Myopathy 10A, Severe Variant |
|
Tongue fasciculations, Failure to thrive, Respiratory distress, Abnormal motor nerve conduction v... |
OMIM:614399 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials... |
ORPHA:98755 |
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of the maxilla, Failure to thrive... |
OMIM:608154 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Decreased motor nerve conduction velocity, Motor axonal neuropathy, Axonal loss, Freq... |
OMIM:620068 |
Stuve-Wiedemann Syndrome 1 |
|
Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bo... |
OMIM:601559 |
Sandhoff Disease, Adult Form |
|
Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
Three M Syndrome 2 |
|
Short 5th finger, Severe short stature, Dental malocclusion, Slender long bone, Clinodactyly, Del... |
OMIM:612921 |
Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Mesomelic short statur... |
OMIM:249700 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... |
ORPHA:98856 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... |
ORPHA:216873 |
Microcephalic osteodysplastic primordial dwarfism, type III |
|
Severe short stature, Optic atrophy, Ulnar deviation of finger, Slender long bone, Hypoplasia of ... |
OMIM:210730 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:603516 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... |
OMIM:610245 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Head tremor, Torticollis, Dystonia, Intention tremor |
OMIM:613724 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... |
ORPHA:356961 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Paraplegia, Micrognathia, Genu valgum, De... |
OMIM:271640 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Hand tremor, Fas... |
ORPHA:101085 |
Microcephaly-Micromelia Syndrome |
|
Short palpebral fissure, Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth... |
OMIM:251230 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Chorea, Babinski si... |
OMIM:250100 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
Achondroplasia |
|
Rhizomelia, Neonatal short-limb short stature, Radial bowing, Flared metaphysis, Femoral bowing, ... |
OMIM:100800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Telecanthus, Polydactyly, Short stature, Syndactyly |
OMIM:300484 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Spasticity, Decerebrate rigidity, Leukodystrophy, Tip-toe gait, Decreased nerve co... |
ORPHA:309256 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, Femoral bowing,... |
ORPHA:1860 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio... |
ORPHA:93308 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy |
ORPHA:101082 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Flared metaphysis, Decreased fibular diameter, Telecanthus, Micrognathia, Intrauterin... |
OMIM:616897 |
Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
Meier-Gorlin Syndrome 1 |
|
Small hand, Joint contracture of the hand, Cutaneous finger syndactyly, Genu valgum, Micrognathia... |
OMIM:224690 |
Osteogenesis Imperfecta |
|
Carious teeth, Tetraparesis, Abnormal tibia morphology, Micrognathia, Genu valgum, Decreased skul... |
ORPHA:666 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Tachypnea, Periphera... |
OMIM:604320 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Respiratory distress, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to ... |
ORPHA:240085 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Tongue fasciculations, Decreased motor nerve conduction velocity, Hand tremor, Chronic axonal neu... |
OMIM:162400 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Dyspnea, Dystonia, ... |
ORPHA:98810 |
Short Syndrome |
|
Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodactyly, Delayed eruptio... |
OMIM:269880 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Slender long bo... |
OMIM:610915 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Respiratory ... |
ORPHA:240103 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Gait disturbance, Truncal obesity |
ORPHA:2928 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Unsteady gait, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Thin metacarpal cortices, Thin metatarsal cortices, Slender long bone, Long foot, Eun... |
ORPHA:2463 |
Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Disproportionate short-limb short stature, Obesity, ... |
ORPHA:174 |
Pulmonary Blastoma |
|
Dyspnea, Weight loss |
ORPHA:64741 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Growth delay, Abnormal foot morphology, Up... |
ORPHA:94068 |
Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Failure to thrive, Intrauterine gr... |
OMIM:613804 |
Split Cord Malformation Type I |
|
Diastomatomyelia |
ORPHA:1671 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Abnormal ... |
ORPHA:401830 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormal pyramidal sign, Gliosis, Ataxia, Uns... |
OMIM:256600 |
Meier-Gorlin Syndrome 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Slender long bone, Patellar hypoplasia, Downslanted... |
OMIM:613803 |
Garg-Mishra Progeroid Syndrome |
|
Slender long bone, Slender metacarpals, Postnatal growth retardation, Micrognathia, Short stature... |
OMIM:620601 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Facial diplegia |
OMIM:616286 |
Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Delayed eruption of... |
OMIM:601812 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Postnatal growth retardation, Unilateral ptosis |
ORPHA:91412 |
Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Clinodactyly, Slender long bone, Failure to thrive, Hypoplasia of the ... |
OMIM:613805 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Paralysis, Distal sensory impairment |
OMIM:613710 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropathy, Babinsk... |
OMIM:607317 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Spasticity, Tremor, Delayed CNS myelination, Ataxia |
OMIM:300983 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Kinetic tremor, Tremor |
OMIM:611808 |
Fetal Akinesia Deformation Sequence 1 |
|
Micrognathia, Hip contracture, Talipes equinovarus, Elbow ankylosis, Blepharophimosis, Short palp... |
OMIM:208150 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:613287 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials, Ataxia |
ORPHA:1933 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Spasticity, Decerebrate rigidity, Leukodystrophy, Decreased nerve conduction veloc... |
ORPHA:309263 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Respiratory distress, Hypertonia, Dystonia |
ORPHA:26792 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis, Paresthesia |
OMIM:612740 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Weight loss |
ORPHA:141152 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:608895 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Spasticity, Leukodystrophy, Respiratory distress, Myoclonus, Abnormality of extrap... |
OMIM:614299 |
Van Den Ende-Gupta Syndrome |
|
Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Micrognathia,... |
OMIM:600920 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Involuntary movements, Sensory axonal neuropathy |
ORPHA:238329 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Amelia, Holoprosencephaly, Short femur |
OMIM:601357 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Hand clenching, Congenital knee dislocation, Inability to walk, Postnatal growth retardation, Bil... |
ORPHA:319332 |
Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... |
OMIM:128230 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hand clenching, Arachnodactyly, Blepharophimosis, Ataxia, Optic disc pallor, Hip dislocation, Ost... |
OMIM:620083 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diplegia, Tremor,... |
ORPHA:329478 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:615957 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
Meier-Gorlin Syndrome 2 |
|
Slender long bone, Failure to thrive, Tracheomalacia, Intrauterine growth retardation, Micrognath... |
OMIM:613800 |
Primary Dystonia, Dyt4 Type |
|
Upper limb postural tremor, Blepharospasm, Involuntary movements, Generalized dystonia, Laryngeal... |
ORPHA:98805 |
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Clinodactyly, Epicanthus, Pes planus, Narrow palpebral fissure, Symphalangism of the thumb, Short... |
OMIM:620494 |
Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Epicanthus, Bro... |
ORPHA:56304 |
Tick-Borne Encephalitis |
|
Tongue fasciculations, Incoordination, Speech apraxia, Stiff neck, Abnormal cranial nerve morphol... |
ORPHA:297 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... |
ORPHA:3329 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... |
OMIM:250460 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity |
OMIM:616687 |
Myopathy And Diabetes Mellitus |
|
Tip-toe gait, Respiratory distress, Inability to walk, Peripheral axonal neuropathy, Babinski sig... |
ORPHA:2596 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ba... |
ORPHA:101076 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Spasticity, Decerebrate rigidity, Leukodystrophy, Difficulty walking, Decreased ne... |
ORPHA:309271 |
Wild Type Abeta2M Amyloidosis |
|
Decreased amplitude of sensory action potentials, Tetraparesis, Decreased nerve conduction veloci... |
ORPHA:85446 |
Friedreich Ataxia |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, ... |
ORPHA:95 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Slender long bone, Clinodactyly, Failure to thrive in infancy, Limited elbow extension, Ptosis, H... |
OMIM:613385 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Sparse eyebrow, Short tibia, Unicoronal ... |
OMIM:616300 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t... |
OMIM:277170 |
Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Stiff neck, Abnormality of the vestibulocochlear nerve, Ga... |
ORPHA:268882 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
Tetanus |
|
Autonomic bladder dysfunction, Respiratory distress, Tremor, Rigidity, Opisthotonus, Tachypnea, A... |
ORPHA:3299 |
Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Spasticity, Leukodystrophy, Tremor, Rigidity, Cerebral hypomyelination, Oculomotor... |
OMIM:612438 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Axonal degeneration,... |
OMIM:604168 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Frontalis muscle weakness, Decreased body weight |
OMIM:300580 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, ... |
OMIM:132400 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclusion, Slender ... |
OMIM:616202 |
Leukodystrophy, Hypomyelinating, 24 |
|
Peripheral axonal neuropathy, Tongue fasciculations, Decreased motor nerve conduction velocity, L... |
OMIM:619851 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Gait disturbance, Periodic paralysis |
OMIM:614198 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Spastic paraplegia, Broad-based gait, CNS hypomyelination, Failure to thrive, Gene... |
OMIM:312080 |
Diencephalic Syndrome |
|
Optic atrophy, Decreased body weight, Cachexia, Hydrocephalus, Large hands |
ORPHA:1672 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:164500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Delayed CNS mye... |
OMIM:300423 |
Benign Schwannoma |
|
Peripheral schwannoma, Schwannoma, Vestibular schwannoma, Abnormal cranial nerve morphology, Scle... |
ORPHA:252164 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Spastic paraplegia, Spasticity, Respiratory distress, Inability to walk, Spastic tetraplegia |
OMIM:617977 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... |
OMIM:607831 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Spastic paraplegia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... |
OMIM:256840 |
Spinocerebellar Ataxia Type 37 |
|
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait di... |
ORPHA:363710 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression |
OMIM:251250 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Tetraparesis, Sclerosis of skull base, Femoral bowing, Increased sus... |
OMIM:602080 |
Juvenile Huntington Disease |
|
Broad-based gait, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia, Weight loss, Ataxia, Bradyk... |
ORPHA:248111 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Short humerus, Short ribs, Talipes equino... |
OMIM:607143 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... |
OMIM:602433 |
Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations |
OMIM:615048 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... |
OMIM:600785 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Acute Peripheral Arterial Occlusion |
|
Paralysis, Paresthesia, Impaired distal tactile sensation |
ORPHA:90064 |
Epilepsy, Progressive Myoclonic, 1B |
|
Sensory axonal neuropathy, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Spasticity, Spastic paraparesis, Failure to thrive, Leukodystrophy, Tip-toe gait, ... |
OMIM:614877 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e... |
OMIM:277440 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Chorea, Abnormality of peripheral nerve conduction, Dysmetria, Peripheral hypomyelination, Abnorm... |
ORPHA:48431 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... |
ORPHA:93333 |
Atelosteogenesis Type I |
|
Rhizomelia, Absent or minimally ossified vertebral bodies, Telecanthus, Micrognathia, Talipes equ... |
ORPHA:1190 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Waddling gait, Axonal degeneration |
OMIM:618138 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... |
OMIM:604317 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ... |
OMIM:616710 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ... |
OMIM:618728 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Interictal epileptiform activity, Hippocampal sclerosis, Myoclonus, Tremor |
OMIM:615400 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Gait ataxia, Tremor, Dysmetria, Peripheral axonal neuropathy, S... |
OMIM:618387 |
Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia |
ORPHA:140989 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Involuntary movements, Tip-toe gait, Decreased nerve conduction velocity, Leg dystonia, Ankle clo... |
ORPHA:565624 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo... |
OMIM:618049 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Head titubation, Delayed CNS myelination... |
OMIM:618688 |
Cerebellar-Facial-Dental Syndrome |
|
Severe short stature, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Infancy... |
ORPHA:444072 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Hypsarrhythmia, Tremor |
OMIM:619561 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Elbow flexion contracture, Tremor, Hydrocephalus, Spastic tetrap... |
OMIM:619470 |
Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Clinodactyly, Micrognathia, Sparse eyelashes, Absent eyelashes, Talipes equinovarus,... |
OMIM:264090 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Spasticity, Abnormality of peripheral nerve conduction, Apneic episodes in infancy... |
ORPHA:35069 |
Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
Congenital Myopathy 22B, Severe Fetal |
|
Tapered toe, Shoulder flexion contracture, Slender long bone, Retrognathia, Downslanted palpebral... |
OMIM:620369 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
EEG with abnormally slow frequencies, Spasticity, Abnormality of somatosensory evoked potentials,... |
ORPHA:280219 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Dif... |
OMIM:600081 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
Epilepsy, Progressive Myoclonic 7 |
|
EEG with generalized epileptiform discharges, Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Spasticity, Failure to... |
ORPHA:206436 |
Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Ataxia, Dystonia |
OMIM:618093 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Genu valgum, Micrognathia, Fibular... |
OMIM:613848 |
Familial Cervical Artery Dissection |
|
Paralysis, Facial palsy, Paresthesia |
ORPHA:36382 |
Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata... |
ORPHA:97355 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Obesity, Intrauterine growth retardation, Limb dystonia, Tremor, Ataxia |
OMIM:620270 |
Huntington Disease-Like 1 |
|
Involuntary movements, Incoordination, Chorea, Gait ataxia, Simultanapraxia, Dysmetria, Clumsines... |
ORPHA:157941 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, Advan... |
OMIM:618363 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Involuntary movements, Spasticity, Failure to thrive, Difficulty walking, Abnormal... |
ORPHA:442835 |
Sialidosis Type 1 |
|
Decreased nerve conduction velocity, Myoclonus, Tremor, Gait disturbance, EEG abnormality, Ataxia... |
ORPHA:812 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Respiratory distress, Gait ataxia, Cachexia, Weight loss |
OMIM:612075 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Telecanthus, Micr... |
OMIM:612731 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve stenosis, Aortic valve calcification |
OMIM:114065 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Tachypnea, Gait disturbance, Abnormal pyramidal sign, Ataxia,... |
ORPHA:765 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Hand clenching, Spasticity, Decreased motor nerve conduction velocity, Retrognathia, Arthrogrypos... |
OMIM:618186 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... |
OMIM:617284 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Spasticity, Loss of ambulation, Babinski sign, Tachypnea, Gait disturbance, Ataxia, Optic disc pa... |
OMIM:615838 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sig... |
ORPHA:477673 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
Neurofibromatosis Type 1 |
|
Osteopenia, Slender long bone, Abnormal hip bone morphology, Genu valgum, Pheochromocytoma, Recur... |
ORPHA:636 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn... |
OMIM:258315 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
Spinocerebellar Ataxia 18 |
|
Sensory axonal neuropathy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadocho... |
OMIM:607458 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Diastrophic Dysplasia |
|
Ulnar deviation of finger, Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Dis... |
OMIM:222600 |
Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Tongue fasciculations, Vocal cord paresis, Facial paralysis, Failure to thrive, De... |
ORPHA:99949 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia, EEG abnorm... |
OMIM:617810 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Epi... |
OMIM:258860 |
Optic Atrophy 11 |
|
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Dysmetria, Hyperkinetic movements, De... |
OMIM:617302 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Postural tremor, Dysmetria, Tremo... |
OMIM:607694 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Short ribs, Subpe... |
OMIM:618188 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor motor coordination, Episodic tachypnea, Apnea, Loss of ambulation, Clumsiness, Parkinsonism,... |
ORPHA:79264 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Peripheral demyelination, Chorea, Gait ... |
ORPHA:397946 |
Rabies |
|
Vocal cord paresis, Paresthesia, Cerebral palsy |
ORPHA:770 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... |
OMIM:264700 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Gait ataxia, Intention tremor, Dysmetria, Babinski sign, Demyelinating peripheral ... |
ORPHA:504476 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Retrognathia, Pes cavus, Tremor, Ptosis, Ataxia, Clinodactyly of the 5th finger, D... |
OMIM:619422 |
Kyphomelic Dysplasia |
|
Disproportionate short stature, Limitation of joint mobility, Radial bowing, Micromelia, Flared m... |
OMIM:211350 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia |
OMIM:254120 |
Spinocerebellar Ataxia 1 |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Decreased amplitude of sens... |
OMIM:164400 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, Loss ... |
ORPHA:137898 |
Isaacs Syndrome |
|
Weight loss, EEG abnormality, Fasciculations |
ORPHA:84142 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Failure to thrive, Decreased nerve conduction velocity, Gait ataxia, Demyelinat... |
OMIM:616652 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Decreased compound muscle action potential amplitude, Loss of ambulation, Dyspnea, Facial palsy, ... |
OMIM:603511 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Amyotrophic lateral sclerosis, Difficulty walking, Decreased nerve conduction... |
ORPHA:600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11 |
|
Broad-based gait, Difficulty walking, Decreased compound muscle action potential amplitude, Motor... |
OMIM:620528 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Vocal cord paresis, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration... |
OMIM:601152 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Dif... |
OMIM:241530 |
Spastic Ataxia 2, Autosomal Recessive |
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Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... |
OMIM:600116 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Gai... |
ORPHA:216866 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re... |
ORPHA:96334 |
Juvenile Amyotrophic Lateral Sclerosis |
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Amyotrophic lateral sclerosis, Difficulty walking, Axial dystonia, Opisthotonus, Cachexia, Parkin... |
ORPHA:300605 |
Ear-Patella-Short Stature Syndrome |
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Severe short stature, Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology... |
ORPHA:2554 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Tongue fasciculations, Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Ankle clo... |
OMIM:211530 |
Huntington Disease-Like 2 |
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Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia |
OMIM:606438 |
Spinocerebellar Ataxia 50 |
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Froment sign, Chorea, Postural tremor, Myoclonus, Action tremor, Head tremor, Apraxia, Ataxia |
OMIM:620158 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Corticobasal Syndrome |
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Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis |
OMIM:619141 |
Hereditary Butyrylcholinesterase Deficiency |
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Paralysis |
ORPHA:132 |
Emphysema, Congenital Lobar |
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Respiratory distress |
OMIM:130710 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hand tremor, Fasciculations, Axonal degeneration, Decreased number of peripheral myelinated nerve... |
OMIM:604484 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gliosis, Ataxia, Unstead... |
OMIM:213200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Optic atrophy, Respiratory distress, Chorea, Hemiplegia/hemiparesis, Dystonia, Choreoathetosis |
ORPHA:289916 |
Orofaciodigital Syndrome Ix |
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Toe syndactyly, Short tibia, Telecanthus, Hand polydactyly, Camptodactyly, Short stature |
OMIM:258865 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... |
OMIM:307800 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Abnormality of neuronal migration |
OMIM:618709 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
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Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Parkinsonism, ... |
ORPHA:521406 |
Neuroectodermal Melanolysosomal Disease |
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Optic atrophy, Spasticity, Tremor, Rigidity, Hypertonia, Ataxia |
ORPHA:33445 |
Riboflavin Transporter Deficiency |
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Abnormal cranial nerve morphology, Myoclonus, Tremor, Cachexia, Ptosis, Abnormal autonomic nervou... |
ORPHA:97229 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... |
ORPHA:2590 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Optic atrophy, Oculogyric crisis, Difficulty walking, Inability to walk, Tremor, Dystonia |
ORPHA:330050 |
Lethal Ataxia With Deafness And Optic Atrophy |
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Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... |
ORPHA:1187 |
Huntington Disease |
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Involuntary movements, Decreased body mass index, Difficulty walking, Inability to walk, Chorea, ... |
ORPHA:399 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... |
ORPHA:314632 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
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Spastic paraplegia, Decreased motor nerve conduction velocity, Failure to thrive in infancy, Axia... |
OMIM:619026 |
Striatal Degeneration, Autosomal Dominant 1 |
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Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
Beta-Propeller Protein-Associated Neurodegeneration |
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Optic atrophy, Spastic paraparesis, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal autonomic ... |
ORPHA:329284 |
Igg4-Related Ophthalmic Disease |
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Abnormal fifth cranial nerve morphology, Abnormal morphology of bony orbit of skull, Enlarged lac... |
ORPHA:449563 |
Autosomal Recessive Spastic Paraplegia Type 25 |
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Spastic paraplegia, Paraparesis, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Ataxia, Spasticity, Spastic paraparesis, Dysmyelinating leukodystrophy, Decreased nerve conductio... |
OMIM:609136 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
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Severe short stature, Joint contracture of the hand, Neonatal short-limb short stature, Limitatio... |
OMIM:224400 |
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
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Pulmonic stenosis |
OMIM:264140 |
Wrinkly Skin Syndrome |
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