Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... |
OMIM:611228 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
Null Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Inability to wa... |
ORPHA:280234 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... |
ORPHA:206594 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency |
ORPHA:640 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... |
OMIM:618404 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Inability to wal... |
ORPHA:101077 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Unsteady g... |
ORPHA:2932 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude, Babinski sign, Difficulty walking, Frequent... |
OMIM:619112 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,... |
OMIM:605253 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Babinski sign, Abnormal ... |
OMIM:600361 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Genu recurvatum, Short stature, Optic atrophy, Reduced bone mineral density, Slender ... |
ORPHA:1185 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Abnormal foot morphology, Absent Achilles reflex, Slender long bone, Hammertoe, Steppage gait, Ga... |
ORPHA:488333 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607706 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction veloci... |
ORPHA:99939 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Difficulty walking, Steppage gait, Hand tremor |
ORPHA:352675 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Segmental peripher... |
OMIM:162500 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Three M Syndrome 1 |
|
Mandibular prognathia, Pes planus, Small for gestational age, Short stature, Joint hypermobility,... |
OMIM:273750 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Ataxia, Tremor, Gait disturbance |
ORPHA:101078 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609311 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... |
OMIM:249900 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement |
OMIM:615377 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Chronic axonal neuropathy |
OMIM:606595 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased sensory nerve conduction... |
OMIM:608323 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Postural tremor, Babinski sign, Unsteady gait, Limb at... |
ORPHA:3115 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Blepharo... |
OMIM:610758 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Limitation of joint mobility, Hip dislocation, Slender long bone, Gait disturbance, Hypoplastic p... |
ORPHA:2840 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturbance, Difficul... |
ORPHA:101001 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Onion bul... |
OMIM:610100 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Inability to walk, Abnormali... |
ORPHA:90117 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking |
OMIM:615575 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Unsteady gait, Impaired tand... |
ORPHA:101097 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Ataxia, Tremor, Gait disturbance |
ORPHA:101075 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Broad-based gait, Decreased nerve conduction velocity, Dyspnea, Poo... |
ORPHA:435387 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Gait disturbance, ... |
ORPHA:101081 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteo... |
ORPHA:2774 |
Squalene Synthase Deficiency |
|
Epicanthus, Failure to thrive in infancy, Optic nerve hypoplasia, Micrognathia, Elbow flexion con... |
OMIM:618156 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Fas... |
ORPHA:276435 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... |
OMIM:608804 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:214400 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmet... |
OMIM:618356 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce... |
OMIM:619795 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Epicanthus, Telecanthus, Hydrocephalus, Optic atrophy, Slender long bone, Malar flatt... |
OMIM:618590 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Diaphragmatic paralysis |
ORPHA:868 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Failure to thrive, Craniosynostosis, Optic atrophy, Reduced bone minera... |
ORPHA:561 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:605726 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myo... |
ORPHA:71277 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... |
OMIM:218000 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Broad-based gait, Ataxia, Apnea, Spastic tetraparesis, Chorea, Delayed myel... |
ORPHA:79097 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Difficulty walking |
OMIM:620111 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased amplitude of sensory act... |
OMIM:618912 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Babinski sign, Spastic paraplegia, Gait distur... |
ORPHA:139578 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,... |
ORPHA:457205 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination |
ORPHA:99944 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy, Dystonia |
OMIM:614932 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, S... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:302801 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dysmetria, Spasticity,... |
OMIM:612674 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Upper motor neuron dysfunction |
OMIM:612577 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia, Respiratory distress |
OMIM:619099 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Gait disturbance, Loss of ambulation, Myelin outfoldings, On... |
OMIM:615284 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Steppage gait |
OMIM:302802 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Malan Overgrowth Syndrome |
|
Episodic ataxia, Slender long bone, Downslanted palpebral fissures, Optic disc pallor |
ORPHA:420179 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ... |
OMIM:610532 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas... |
ORPHA:401820 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Postural tremor, Inability to walk, Unsteady gait, Dem... |
ORPHA:99950 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond... |
ORPHA:65684 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Hypertonia, Decerebrate rigi... |
OMIM:245200 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... |
OMIM:619862 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paral... |
OMIM:614399 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Small for gestational age, Sparse eyelashes, Spina bifida, Micrognathia, Sparse eyeb... |
OMIM:234100 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossificatio... |
OMIM:618265 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal sign, Spastic ... |
OMIM:238970 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Steppage gait, ... |
OMIM:618279 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal glossopharynge... |
ORPHA:221098 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Small for gestational age, Short stature, Slender long bones... |
ORPHA:50811 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysmetria, Bradykinesia, Progressive cere... |
ORPHA:98755 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Unsteady gait, Dysmetria, Ankle clonus |
OMIM:159550 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone... |
ORPHA:1486 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Flared metaphysis, Decreased skull ossification, Slender long bone,... |
OMIM:602361 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale |
OMIM:247610 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
Pulmonary Blastoma |
|
Cough, Dyspnea, Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, T... |
OMIM:604320 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Axonal loss, Steppage gait, Gait disturbance |
OMIM:118300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Gait disturbance, Decreased ... |
OMIM:603472 |
Three M Syndrome 3 |
|
Small for gestational age, Short stature, Growth delay, Slender long bone, Hip dysplasia, Decreas... |
OMIM:614205 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid... |
OMIM:619598 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration |
ORPHA:101029 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Failure to thrive, Pes planus, Short stature, Proximal placeme... |
OMIM:212066 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
Bilateral Polymicrogyria |
|
Spastic tetraparesis, Micrognathia, Spastic hemiparesis, Abnormal pyramidal sign, Facial diplegia... |
ORPHA:268940 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Babinski sign, Abnormal pyrami... |
OMIM:616688 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Distal sensory impairment |
OMIM:616287 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Triangular shaped distal phalan... |
ORPHA:73230 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Delayed myelination, Spa... |
ORPHA:599373 |
Alazami Syndrome |
|
Sparse eyebrow, Postnatal growth retardation, Abnormality of the orbital region, Slender long bon... |
ORPHA:319671 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... |
OMIM:603516 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma |
OMIM:613641 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Babinski sign, Postural tremor, Spastic gait, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Delayed myelination, Optic atrophy, Spastic diplegia, Hypsarrhythmia |
OMIM:617830 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Babinski sign,... |
OMIM:270685 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Carious teeth, Small hand, Short foot, Slender long bone, Birth leng... |
OMIM:244460 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,... |
ORPHA:319514 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia |
OMIM:300857 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine growth retardation |
ORPHA:1506 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... |
OMIM:270550 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... |
OMIM:108720 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Axonal loss, Spasticity, Frequent falls, Motor axonal ... |
OMIM:620068 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Dental... |
OMIM:612921 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill... |
OMIM:608154 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Talipes, Severe generalized osteoporosis, Micrognathia, Hy... |
OMIM:210730 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy |
ORPHA:309169 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Sho... |
ORPHA:2616 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... |
ORPHA:216873 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Synophrys, Distal widening of metacarpals, Coxa vara, Hyperto... |
OMIM:602535 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Atypical Rett Syndrome |
|
Dystonia, Sudden episodic apnea, Involuntary movements, Episodic tachypnea, Impaired pain sensati... |
ORPHA:3095 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... |
ORPHA:101085 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis |
ORPHA:132 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory fa... |
OMIM:614299 |
Slc35A2-Cdg |
|
Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ... |
ORPHA:356961 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Telecanthus, Short stature, Polydactyly, Short tibia |
OMIM:300484 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Abnormal fibula morphology, Coxa vara, Upslanted palpeb... |
ORPHA:1988 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Micromelia, Humeroradial synostosis,... |
OMIM:251230 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Spastic tetraplegia, A... |
OMIM:256600 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Involuntary movements, Respiratory insufficiency, Tongue fasciculations, Se... |
ORPHA:238329 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st... |
OMIM:249700 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture... |
OMIM:224690 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... |
ORPHA:93308 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Telecanthus, Short femur, Fractured radius, Small for gestational age, Decreased fibu... |
OMIM:616897 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Telecanthus, Joint laxity, Small for gestational a... |
OMIM:269880 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorabl... |
ORPHA:240085 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... |
ORPHA:98810 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s... |
ORPHA:240103 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Gait disturbance |
ORPHA:2928 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
OMIM:162400 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Unsteady gait, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Short stature, Aplasia/Hypoplasia of the patella,... |
OMIM:613803 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Short stature, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Birth ... |
OMIM:613804 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination |
ORPHA:401835 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... |
ORPHA:401830 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Arachnodactyly, Joint hypermobility, Synophrys, Abnormality of the... |
ORPHA:2463 |
Split Cord Malformation Type I |
|
Diastomatomyelia |
ORPHA:1671 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis |
OMIM:616286 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, ... |
ORPHA:94068 |
Marcus-Gunn Syndrome |
|
Unilateral ptosis, Postnatal growth retardation, Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... |
ORPHA:309256 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar apl... |
OMIM:613805 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle... |
ORPHA:666 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Difficulty walking, Distal sensory impairment |
OMIM:613710 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, H... |
OMIM:601812 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Normal pressure hydrocephalus, Kinetic tremor |
OMIM:611808 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Reduced vital capacity, Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegi... |
ORPHA:329478 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, Congenital contracture, Wrist flexion contracture, Elbow ankylos... |
OMIM:208150 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign... |
OMIM:607317 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy, Hypertonia, Dystonia, Failure to thrive |
ORPHA:26792 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased b... |
OMIM:300580 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... |
OMIM:600920 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:608895 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Anterior encephalocele, Foot oligodactyly, Holoprosencephaly, Amelia |
OMIM:601357 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Congenital laryngea... |
OMIM:312080 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Knee dislocation, Clinodactyly of the 5t... |
OMIM:620083 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Meier-Gorlin Syndrome 2 |
|
Short stature, Micrognathia, Patellar aplasia, Birth length less than 3rd percentile, Slender lon... |
OMIM:613800 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Tick-Borne Encephalitis |
|
Speech apraxia, Stiff neck, Incoordination, Facial palsy, Paralysis, Tremor, Abnormal glossophary... |
ORPHA:297 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... |
ORPHA:56304 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements... |
ORPHA:98805 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity |
OMIM:616687 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Peripheral axonal neuropathy, Inability to walk, Babinski sign, Progressive... |
ORPHA:2596 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... |
ORPHA:309263 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Tetraplegia, Axonal loss, Tetraparesis, Decreased amplitude ... |
ORPHA:85446 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, D... |
OMIM:211530 |
Tetanus |
|
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n... |
ORPHA:3299 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Respiratory insufficiency due... |
ORPHA:600 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Optic atroph... |
ORPHA:95 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micro... |
ORPHA:2756 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Encephalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow,... |
OMIM:616300 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Cachexia |
ORPHA:1933 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... |
ORPHA:101076 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cachexia, Babinski sign, Respiratory insufficiency, CN... |
OMIM:618186 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe ga... |
ORPHA:216866 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Joint st... |
OMIM:132400 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap... |
OMIM:612438 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Wide anterior fontanel, Fibular h... |
OMIM:201170 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Babins... |
OMIM:604168 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration, Waddling gait |
OMIM:618138 |
Cerebellofaciodental Syndrome |
|
Pes planus, Short stature, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening of all... |
OMIM:616202 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Failure to thrive in infancy, Short stature, Slender long bone, Camptodactyly, Cli... |
OMIM:613385 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... |
OMIM:256840 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Optic atrophy, Large hands, Decreased body weight |
ORPHA:1672 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tongue fasciculations, L... |
OMIM:619851 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem g... |
OMIM:300423 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Apnea, Periodic paralysis |
OMIM:614198 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity |
OMIM:617977 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression |
OMIM:251250 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Myelopathy, Cranial nerve compress... |
ORPHA:268882 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Failure to thrive, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy,... |
OMIM:614877 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... |
ORPHA:93333 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Postnatal growth retardation, Inability to walk, Congenital knee dislo... |
ORPHA:319332 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... |
ORPHA:309271 |
Diastrophic Dysplasia |
|
Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ... |
OMIM:222600 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai... |
ORPHA:765 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Epicanthus, Enlargement of the an... |
OMIM:277440 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Epicanthus, Short femur, Sandal gap, Small for gestational age, Rhizomelia, Hypopl... |
OMIM:607143 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait a... |
OMIM:618387 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Telecanthus, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial fo... |
OMIM:603671 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod... |
OMIM:618688 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At... |
ORPHA:1187 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... |
ORPHA:565624 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst... |
ORPHA:280219 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Respiratory insufficiency due to m... |
ORPHA:2590 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, Respiratory failure, G... |
OMIM:615838 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis |
OMIM:616201 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Hypertonia, Genu varum, Long toe, Absent eyebrow, Intention tr... |
OMIM:264090 |
Perry Syndrome |
|
Hypoventilation, Parkinsonism, Central hypoventilation, Akinesia, Tremor, Rigidity, Respiratory i... |
OMIM:168605 |
Atelosteogenesis Type I |
|
Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h... |
ORPHA:1190 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Elbow flexion contracture, Optic a... |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypsarrhythmia |
OMIM:619561 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Limb dystonia, Bilateral coxa valga, Intrauterine growth retardation |
OMIM:620270 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cach... |
ORPHA:206436 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Respiratory insufficiency, Abnormal au... |
ORPHA:97229 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Micrognath... |
ORPHA:444072 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
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 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Respiratory insufficiency, Athet... |
OMIM:618241 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges |
OMIM:616187 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unstead... |
ORPHA:35069 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, Failure to thrive |
OMIM:616494 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hip contracture, Tapered toe, Shoulder flexion contracture, Talipes, Micrognathia,... |
OMIM:620369 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, Amelogenesis imperfecta, Microretrognathia... |
OMIM:618363 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Ax... |
OMIM:619026 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro... |
OMIM:613848 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG abnormality, Gait distur... |
ORPHA:812 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Faciocardiomelic Syndrome |
|
Osteopenia, Ptosis, Telecanthus, Micrognathia, Large for gestational age, Dental malocclusion, Sl... |
OMIM:612731 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Poor motor coordination, Parkinsonism, Apnea, Episodic tachypnea, Clumsiness, ... |
ORPHA:79264 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Idiopathic Achalasia |
|
Cough, Wheezing, Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis |
OMIM:185500 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Paraparesis, Osteolysis, Femo... |
OMIM:602080 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Limited... |
OMIM:258315 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu... |
OMIM:607458 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
Tuberculosis |
|
Cough, Weight loss |
ORPHA:3389 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ... |
OMIM:605274 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly,... |
OMIM:258860 |
Neurofibromatosis Type 1 |
|
Ataxia, Short stature, Recurrent fractures, Abnormal eyelid morphology, Joint stiffness, Hydrocep... |
ORPHA:636 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... |
ORPHA:477673 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Cough, A... |
OMIM:610978 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Respiratory insufficiency due to muscle weakness, Degeneration of anterior ... |
OMIM:159950 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Communicating hydrocephalus, Short femur, Metaphyseal spurs, Recurrent fractures, Fem... |
OMIM:618188 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spast... |
OMIM:617810 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le... |
OMIM:607694 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
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Waddling gait, Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Loss ... |
OMIM:603511 |
Multifocal Motor Neuropathy |
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Motor conduction block, Fasciculations |
ORPHA:641 |
Yuan-Harel-Lupski Syndrome |
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Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Failure to thr... |
OMIM:616652 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
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Ataxia, Tremor, Optic atrophy, Choreoathetosis, Growth delay, Dystonia, Clinodactyly of the 5th f... |
OMIM:619422 |
Kyphomelic Dysplasia |
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Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Spastic ataxia, Impaired distal proprioception, Tremor, Dysmyelinating leukodystrophy, Unsteady g... |
ORPHA:137898 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr... |
OMIM:264700 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure,... |
ORPHA:280210 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
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Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebella... |
ORPHA:504476 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Rabies |
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Vocal cord paresis, Cerebral palsy, Paresthesia |
ORPHA:770 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Decreased nerve conduction velocity, Vocal cord paralysis, Tremor |
ORPHA:397744 |
Adult Neuronal Ceroid Lipofuscinosis |
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Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia 1 |
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Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... |
OMIM:164400 |
Optic Atrophy 11 |
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Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... |
OMIM:617302 |
Isaacs Syndrome |
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EEG abnormality, Fasciculations, Weight loss |
ORPHA:84142 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
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Respiratory distress |
ORPHA:2680 |
Spastic Ataxia 2, Autosomal Recessive |
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Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Spinocerebellar Ataxia 50 |
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Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
Ear-Patella-Short Stature Syndrome |
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Failure to thrive, Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynost... |
ORPHA:2554 |
Emphysema, Congenital Lobar |
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Respiratory distress |
OMIM:130710 |
Joubert Syndrome 7 |
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Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Oculomotor apraxia, Neonatal breathing dysr... |
OMIM:611560 |
Pfeiffer-Palm-Teller Syndrome |
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Aortic valve stenosis |
ORPHA:2871 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Ataxia, Abnormal pyramidal sign, Dysmetria, Motor axonal neuropathy, Abnormality of peripheral ne... |
ORPHA:48431 |
Multiple System Atrophy, Parkinsonian Type |
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Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Juvenile Amyotrophic Lateral Sclerosis |
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Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, CNS hypomyelination, Upper limb s... |
ORPHA:300605 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Huntington Disease-Like 2 |
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Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Flexio... |
ORPHA:96334 |
Dystonia 11, Myoclonic |
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Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Corticobasal Syndrome |
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Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis |
OMIM:619141 |
Familial Cervical Artery Dissection |
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Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Neuroectodermal Melanolysosomal Disease |
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Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity |
ORPHA:33445 |
Multiple System Atrophy, Cerebellar Type |
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Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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