Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Null Syndrome |
|
Ataxia, Inability to walk, Demyelinating peripheral neuropathy, Decreased nerve conduction veloci... |
ORPHA:280234 |
Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Optic atrophy, Spastic paraplegia, Spasticity, Abnormality of p... |
ORPHA:431329 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... |
OMIM:601098 |
Pulmonic Stenosis And Deafness |
|
Pulmonic stenosis, Ventricular hypertrophy |
OMIM:178651 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Respiratory insufficiency, Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Babinski sign, Frequent falls, Difficulty walking, Decreased compound muscle action potential amp... |
OMIM:619112 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Leukodystrophy, Hypomyelinating, 18 |
|
Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysm... |
OMIM:618404 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerv... |
ORPHA:101077 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:615411 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... |
OMIM:600361 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... |
ORPHA:98890 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Reduced bone mineral density, Short stature, Spina bifida occulta, Slender long ... |
ORPHA:1185 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Resp... |
OMIM:605253 |
Leukodystrophy, Hypomyelinating, 13 |
|
Hypertonia, Ataxia, Failure to thrive, Delayed myelination, Leukodystrophy, Optic atrophy, Spasti... |
OMIM:616881 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Lower limb spasticity, Progressive spastic paraplegia, Spastic gait, ... |
ORPHA:401840 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Voca... |
OMIM:162500 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Tip-toe gait, Pes cavus, Slender long bone, Steppage gait, Hammertoe, Gait disturbance, Abnormal ... |
ORPHA:488333 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Difficulty walking, Decreased nerve conduction velocity, Hand tremor, Steppage gait |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Subaortic Stenosis, Membranous |
|
Subvalvular aortic stenosis |
OMIM:271950 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyeli... |
ORPHA:99939 |
Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
Three M Syndrome 1 |
|
Growth delay, Clinodactyly of the 5th finger, Thick eyebrow, Postnatal growth retardation, Malar ... |
OMIM:273750 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Decr... |
OMIM:609311 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:1368 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... |
ORPHA:90117 |
Roussy-Lévy Syndrome |
|
Clumsiness, Limb ataxia, Decreased motor nerve conduction velocity, Babinski sign, Frequent falls... |
ORPHA:3115 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect |
OMIM:618496 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Intention ... |
OMIM:618356 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity,... |
ORPHA:101081 |
Atrial Fibrillation, Familial, 13 |
|
Left atrial enlargement, Aortic valve stenosis |
OMIM:615377 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased sensory nerve conduction... |
OMIM:608323 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyelination, Spastic tetra... |
OMIM:249900 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, St... |
OMIM:610100 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Difficulty walking, Fasciculations |
OMIM:615575 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Hypertonia, Decreased body weight, Intrauterine growth retardation, Adduc... |
OMIM:610758 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Onion bulb formation, Decreased motor nerve conduction veloci... |
OMIM:618184 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Slender long bone, Gait disturbance, Hypoplastic pelvis, Hip dislocation, L... |
ORPHA:2840 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Gait disturbance, Difficulty walking, Spasticity, Apraxia, Abnormality o... |
ORPHA:101001 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity... |
OMIM:614561 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Onion bulb formation, Decreased motor nerve co... |
OMIM:302800 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Broad-based gait, Poor fine motor coordination, Decreased nerve conduction veloci... |
ORPHA:435387 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Squalene Synthase Deficiency |
|
2-3 toe syndactyly, Retrognathia, Micrognathia, Optic nerve hypoplasia, Slender long bone, Epican... |
OMIM:618156 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Demyelinating motor neuropathy, Spastic paraparesis, Intention tremor, Leukodystrophy, De... |
OMIM:608804 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Peripheral demyelination, Polyneuritis |
OMIM:162600 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Limitation of joint mobility, Micrognathia, Camptodactyly of finger, Cachexia, Slender long bone,... |
ORPHA:2774 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Decreased nerve conduction velocity |
ORPHA:868 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Tongue fasciculations, Abnormal sens... |
ORPHA:276435 |
Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... |
ORPHA:139578 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Diff... |
OMIM:618912 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Short stature, Slen... |
OMIM:619795 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Talipes equinovarus, Short stature, Micrognathia, Camptodactyly of finger, Osteopenia, Brachydact... |
OMIM:211920 |
Marshall-Smith Syndrome |
|
Failure to thrive, Craniosynostosis, Retrognathia, Reduced bone mineral density, Slender long bon... |
ORPHA:561 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... |
OMIM:601560 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decreased number of periphe... |
OMIM:600882 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Disproportionate short-limb short stature, Short femur, Short humerus, Rhizome... |
OMIM:600121 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Hydrocephalus, Malar flattening, Osteopenia, Slender long bone, Optic atrophy, Telecanthus, Epica... |
OMIM:618590 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fasciculations, ... |
ORPHA:65684 |
Charcot-Marie-Tooth Disease Type 4D |
|
Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity... |
ORPHA:99950 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:302801 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, Inability to walk, Decreased nerve conduction vel... |
ORPHA:457205 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Fasciculations, Steppage gait |
OMIM:606595 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Decreased nerve conduction velocity |
OMIM:612577 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Intrauterine growth... |
OMIM:210720 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Optic atrophy, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Hypertonia, Ataxia, Respiratory distress, Delayed myelination, Apnea, Cerebral ... |
ORPHA:79097 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Central apnea, Cho... |
ORPHA:71277 |
Acromesomelic Dysplasia 2A |
|
Stillbirth, Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplas... |
OMIM:200700 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity, Steppage gait |
OMIM:302802 |
Leukodystrophy, Hypomyelinating, 5 |
|
Loss of ambulation, Truncal titubation, Intention tremor, Leukodystrophy, Decreased motor nerve c... |
OMIM:610532 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... |
OMIM:601068 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental periphe... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Megabladder, Congenital |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... |
OMIM:618719 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor, Abnormal ne... |
OMIM:619862 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... |
OMIM:612674 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ly... |
OMIM:601376 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Tongue fasciculations, Abnorm... |
OMIM:614399 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Optic atrophy, Sandal gap, Hypoplasia of the maxilla, Bowing of the long bones, Sh... |
ORPHA:1106 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Inability to walk, Delayed myelination, Spastic diplegia, Optic atrophy, Hypsar... |
OMIM:617830 |
Krabbe Disease |
|
Hypertonia, Failure to thrive, EEG abnormality, Decreased nerve conduction velocity, Decerebrate ... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Gait disturbance, Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Malar flattening, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Metaphyseal chondr... |
OMIM:300660 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Lower limb spasticity, Difficulty walking, Progressive spastic paraplegia, Limb tr... |
ORPHA:401820 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity |
OMIM:611105 |
Malan Overgrowth Syndrome |
|
Downslanted palpebral fissures, Optic disc pallor, Slender long bone, Episodic ataxia |
ORPHA:420179 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Spastic gait, Abnormal motor nerve conduction velocity, Postural tremor, Babinski sign |
ORPHA:100998 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Steppage gait |
OMIM:613641 |
Alazami Syndrome |
|
Motor stereotypy, Short palpebral fissure, Malar flattening, Sparse eyebrow, Stereotypical hand w... |
ORPHA:319671 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasci... |
ORPHA:98755 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Babinski sign, Spastic paraplegia, Spastic gait, Postu... |
OMIM:270685 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia, Failure to thrive, Thick eyebrow, Short stature, Retrognathia, Oste... |
OMIM:212066 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... |
OMIM:616688 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Ankle clonus, Babinski sign, Unsteady gait |
OMIM:159550 |
Hallermann-Streiff Syndrome |
|
Dental malocclusion, Supernumerary tooth, Malar flattening, Small for gestational age, Sparse eye... |
OMIM:234100 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
ORPHA:50811 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Disproport... |
OMIM:259420 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Periodic hypokalemic paresis, Small finger, Hypoplasia of the maxilla, Clinod... |
OMIM:170390 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Failure to thrive, Decreased nerve conduction velocity, Small for gestational age, Axonal degener... |
OMIM:604320 |
Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis |
OMIM:616298 |
Duchenne And Becker Muscular Dystrophy |
|
Gait disturbance, Joint stiffness, Slender long bone, Reduced bone mineral density |
ORPHA:262 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short stature, Abnormal hip bone morphology, Micrognathia, Slender long bone... |
ORPHA:1486 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... |
OMIM:270550 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
Glossopharyngeal Neuralgia |
|
Mandibular pain, Cranial nerve compression, Schwannoma, Weight loss, Vocal cord paralysis, Abnorm... |
ORPHA:221098 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Proximal humeral metaphyseal irregularity, Gliosis, Ulnar deviation of the han... |
OMIM:602613 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... |
OMIM:619598 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
Three M Syndrome 3 |
|
Decreased body weight, Clinodactyly of the 5th finger, Small for gestational age, Short stature, ... |
OMIM:614205 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Dyspnea |
OMIM:606183 |
Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
Huntington Disease-Like 2 |
|
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss, Dystonia |
ORPHA:98934 |
Lissencephaly, X-Linked, 1 |
|
Agyria, Pachygyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hydrocephalus, Short stature, Flared metaphysis, Brachydactyly, Slender long b... |
OMIM:602361 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Episodic tachypnea, Hand apraxia, Pill-rolling tremor, Ste... |
ORPHA:3095 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia, Axonal loss |
OMIM:300857 |
Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria |
OMIM:611603 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis |
OMIM:192600 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... |
OMIM:270500 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Bilateral Polymicrogyria |
|
Facial diplegia, Talipes equinovarus, Pseudobulbar paralysis, Micrognathia, Spastic hemiparesis, ... |
ORPHA:268940 |
Pulmonary Blastoma |
|
Dyspnea, Weight loss, Recurrent pneumonia, Cough |
ORPHA:64741 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Disproport... |
OMIM:127300 |
Acromesomelic Dysplasia 2C |
|
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... |
OMIM:201250 |
Exostoses, Multiple, Type Ii |
|
Coxa vara, Peripheral nerve compression, Short stature, Madelung-like forearm deformities, Genu v... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Coxa vara, Peripheral nerve compression, Short stature, Madelung-like forearm deformities, Genu v... |
OMIM:133700 |
Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Microretrognathia, Hypoplasia of the radius, Radial club hand, S... |
ORPHA:1972 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Abnormal bone ossification, Postnatal growth retardation, Triangu... |
ORPHA:73230 |
Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Birth length less than 3rd percentile, Slender long bone, Carious teeth, Proportionat... |
OMIM:244460 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone |
ORPHA:1506 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduct... |
OMIM:616652 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Brady... |
OMIM:603516 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Osteopenia, Brachydactyly, Delayed eruption of teeth, Slender long bone, Osteolytic... |
OMIM:601812 |
Three M Syndrome 2 |
|
Dental malocclusion, Severe short stature, Malar flattening, Small for gestational age, Short sta... |
OMIM:612921 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Neonatal short-limb short stature, Hypoplasia of the radius, Short tibia, Pseudoarthrosis, Mesome... |
OMIM:156230 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... |
ORPHA:2098 |
Band Heterotopia |
|
Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Dislocation of the femoral head, Intrauterine growth retardation, Cone-shaped epiphyses of the ph... |
OMIM:210730 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Opti... |
ORPHA:216873 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
OMIM:608154 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tetraplegia, Babinski sign, Chorea, Optic atrophy, G... |
OMIM:250100 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Failure to thrive, Delayed myelination, Decreased nerve conduction velocity, Choreoathetosis, Lim... |
ORPHA:319514 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Gait disturbance, Decreased nerve conduction velocity, Truncal obesity |
ORPHA:2928 |
3M Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Short stature, Congenital hip dislocation, Microme... |
ORPHA:2616 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Gait disturbance, Tremor, Progressive spasticity |
OMIM:210000 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve |
ORPHA:228190 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Unsteady gait |
ORPHA:139536 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:101085 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tongue f... |
OMIM:619851 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, 11 pairs of ribs, Genu valgum, Hip subluxation,... |
OMIM:271640 |
Orofaciodigital Syndrome Viii |
|
Short stature, Short tibia, Syndactyly, Polydactyly, Telecanthus |
OMIM:300484 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Upslanted palpebral... |
ORPHA:1988 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Paralysis, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Inability to walk by childhood/adolescence, Poor fine motor coordination, Hand tremor, Impaired v... |
ORPHA:99947 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, Dysmetria, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... |
OMIM:612438 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Carious teeth, Contracture of the proximal interphalan... |
OMIM:601559 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Ataxia, Spastic paraparesis, Tachypnea, Optic atrophy, Spinal cord posterio... |
ORPHA:148 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... |
OMIM:607317 |
Marshall-Smith Syndrome |
|
Hydrocephalus, Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal ... |
OMIM:602535 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Sensory axonal neuropathy, Involuntary movements... |
ORPHA:238329 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor |
OMIM:616710 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Hydrocephalus, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ... |
ORPHA:1860 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign |
OMIM:605726 |
Porphyria, Acute Hepatic |
|
Paresthesia, Paralysis, Respiratory paralysis |
OMIM:612740 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression |
OMIM:602475 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Birth length less than 3rd percentile, Genu valgum, Long eyelashes, Hypopla... |
OMIM:224690 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Secundum atrial septal defect |
OMIM:178650 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... |
ORPHA:70589 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Bradykines... |
ORPHA:240085 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity, Reduced vital capacity, Parkinsonism, Frequ... |
ORPHA:329478 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short femur, Short ribs, Micrognathia, Flared me... |
OMIM:616897 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Decreased nerve conduction velocity, Tip-toe gait, Leukodystrophy, Decerebrate rigidi... |
ORPHA:309256 |
Slc35A2-Cdg |
|
Intrauterine growth retardation, Limb joint contracture, Inability to walk, Talipes equinovarus, ... |
ORPHA:356961 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Meier-Gorlin Syndrome 3 |
|
Coxa vara, Failure to thrive, Talipes equinovarus, Microretrognathia, Short ribs, Short stature, ... |
OMIM:613803 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Meier-Gorlin Syndrome 4 |
|
Failure to thrive, Genu recurvatum, Short stature, Micrognathia, Birth length less than 3rd perce... |
OMIM:613804 |
Fetal Akinesia Deformation Sequence 1 |
|
Intrauterine growth retardation, Ulnar deviation of the hand, Hydrocephalus, Talipes equinovarus,... |
OMIM:208150 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Gliosis, Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior h... |
OMIM:118301 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Dysplasia of the femoral head, Short femur, Abnormally ossified vertebrae,... |
ORPHA:94068 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal bone ossification, Eunuchoid habitus, Malar flattening, Abnormality of the palpebral fis... |
ORPHA:2463 |
Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Wide anterior fonta... |
OMIM:610915 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... |
ORPHA:240103 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Short stature, Micrognathia, Wide capital... |
OMIM:147891 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Paralysis, Distal sensory impairment |
OMIM:613710 |
Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Abnormal fifth cranial nerve morphology, Unilateral ptosis |
ORPHA:91412 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis |
OMIM:616286 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic paraplegia, Lower limb... |
ORPHA:401830 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Respiratory distress, Hypsarrhythmia |
OMIM:616341 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Meier-Gorlin Syndrome 5 |
|
Failure to thrive, Short stature, Micrognathia, Birth length less than 3rd percentile, Hypoplasia... |
OMIM:613805 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Dy... |
ORPHA:98810 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Ataxia, Hydrocephalus, Femoral bowing, Osteopenia, Micromelia, D... |
ORPHA:666 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypertonia, Failure to thrive, Optic atrophy, Dystonia |
ORPHA:26792 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Frontalis muscle weakness, Facial palsy, Respiratory... |
OMIM:300580 |
Hypochondroplasia |
|
Childhood onset short-limb short stature, Aplasia/hypoplasia of the extremities, Malar flattening... |
OMIM:146000 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Babinski si... |
ORPHA:2596 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Optic atrophy, Tremor, Unsteady gait, Incoordination, Obesity |
OMIM:614947 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long met... |
OMIM:600920 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Difficulty walking, Vocal cor... |
ORPHA:600 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus |
OMIM:611808 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Gliosis, Decreased nerve conduction velocity, Abnormal pyramidal sign, Optic atrophy, Spa... |
OMIM:256600 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Ataxia, Clumsiness, Ankle clonus, Knee clonus, Respiratory insufficiency, T... |
OMIM:211530 |
Spinocerebellar Ataxia Type 38 |
|
Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor |
ORPHA:423296 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Leukodystrophy, Decerebrate ri... |
ORPHA:309263 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Short femur, Amelia, Anterior encephalocele, Foot oligodactyly |
OMIM:601357 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Spastic p... |
OMIM:256840 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic ... |
ORPHA:251282 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve |
OMIM:616201 |
Split Cord Malformation Type I |
|
Diastomatomyelia |
ORPHA:1671 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia |
OMIM:600116 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Inability to walk, Sudanophilic leukodystrophy, Optic atrophy, Tremor, Broad-based gait, ... |
OMIM:312080 |
Meier-Gorlin Syndrome 2 |
|
Failure to thrive, Short stature, Tracheomalacia, Micrognathia, Birth length less than 3rd percen... |
OMIM:613800 |
Developmental And Epileptic Encephalopathy 16 |
|
Delayed myelination, Myoclonus, Hemiparesis, Optic atrophy, Dystonia, Abnormality of extrapyramid... |
OMIM:615338 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia |
OMIM:608105 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Abnormal lower motor neuron morphology,... |
ORPHA:2590 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy, Respiratory insufficiency, Abnormal myelination, Inability to walk |
OMIM:618324 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Friedreich Ataxia |
|
Gait imbalance, Inability to walk, Poor fine motor coordination, Limb ataxia, Dysmetria, Intentio... |
ORPHA:95 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia, Decreased nerve conduction velocity |
ORPHA:1933 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... |
OMIM:604168 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Tetraparesis, Decreased amplitude of sensory action potentia... |
ORPHA:85446 |
Tick-Borne Encephalitis |
|
Abnormal autonomic nervous system physiology, Facial palsy, Hyperkinetic movements, Polyneuritis,... |
ORPHA:297 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Spastic paraparesis, Hand tremor, Clasp-knife sign, Decreased motor nerve condu... |
ORPHA:101076 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbell-shaped fem... |
ORPHA:56304 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Microretrognathia, Knee dislocation, Coxa... |
OMIM:618363 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Central sleep apnea, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, ... |
ORPHA:79262 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Optic atrophy, Tremor, Spasticity, Delayed CNS myelination |
OMIM:300983 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:118300 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve |
OMIM:604381 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Retrognathia, Micrognathia, P... |
ORPHA:2756 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... |
OMIM:612447 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth retardation, Sho... |
ORPHA:1505 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Cerebellar gliosis, Abnormal autonomic nervous system physiology, Aspiration pneumonia, A... |
ORPHA:35069 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short stature, Micrognathia, Short ... |
OMIM:201170 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Disproportionate short-limb short stature,... |
OMIM:132400 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress, Blepharospasm, Laryngeal dystonia, Eunuchoid habitus, Dysdiado... |
ORPHA:98805 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:309271 |
Tetanus |
|
Respiratory distress, Hypertonia, Abnormal autonomic nervous system physiology, Opisthotonus, Rig... |
ORPHA:3299 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Loss of ambulation, Decreased compound muscle action potential amplitude, Waddling gait, Dyspnea,... |
OMIM:603511 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria |
OMIM:612437 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:600081 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Clinodactyl... |
OMIM:616202 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Short stature, Slender long bone, Camptodactyly, Limited elbow extension, Hallux valgus, Clinodac... |
OMIM:613385 |
Gabriele-De Vries Syndrome |
|
Malar flattening, Long fingers, Downslanted palpebral fissures, Tremor, Joint laxity, Waddling ga... |
OMIM:617557 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... |
OMIM:618728 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Ataxia, Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreas... |
ORPHA:1187 |
Riboflavin Transporter Deficiency |
|
Sleep apnea, Ataxia, Abnormal autonomic nervous system physiology, Cachexia, Myoclonus, Respirato... |
ORPHA:97229 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Short stature, Hypoplastic ilia, Congenital hip dislocatio... |
ORPHA:93333 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Aspiration pneumonia, Cough, Frequent falls, Optic... |
ORPHA:216866 |
Diencephalic Syndrome |
|
Hydrocephalus, Decreased body weight, Cachexia, Optic atrophy, Large hands |
ORPHA:1672 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Limb ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... |
OMIM:213200 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... |
OMIM:602433 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypertonia, Apnea, Gliosis, Delayed myelination, Abnormal autonomic nervous system physiology, Ba... |
OMIM:614498 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Somatic s... |
ORPHA:363710 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction vel... |
OMIM:619026 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Optic atrophy, Tremor, Spasticit... |
OMIM:164500 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... |
OMIM:607458 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance,... |
OMIM:604484 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology |
ORPHA:353253 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Myoclonus, Fasciculations, Tongue fasciculations, Frequent f... |
OMIM:159950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Leukodystrophy, Rigidity, Tremor, Dystonia |
OMIM:615010 |
Multiple System Atrophy |
|
Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... |
ORPHA:102 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short ... |
OMIM:607143 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelination, Facial ... |
OMIM:601170 |
Diastrophic Dysplasia |
|
Hip contracture, Disproportionate short-limb short stature, Neonatal short-limb short stature, Ta... |
OMIM:222600 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Short palpebral fissure, Craniosynostosis, Micrognathia... |
OMIM:251230 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Tachypnea, Gait disturbance, Tremor, Choreoathet... |
ORPHA:765 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Sparse eyebrow, Delayed eruption of teeth, Long foot, Truncal ataxia, Downslanted ... |
OMIM:264090 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression |
OMIM:251250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Steppage gait, Facial palsy |
OMIM:607684 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hydrocephalus, Optic atrophy, Tremor, Elbow flexion contractu... |
OMIM:619470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Decreased distal sensory nerve action potential, Peripheral axonal neuropathy |
OMIM:618400 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Decreased nerve conduction velocity, Spastic paraparesis, Poor coordination, A... |
OMIM:238970 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Pes cavus, Hammertoe, Tremor, Pes planus, Difficulty walking, Fasciculat... |
OMIM:615048 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... |
ORPHA:248111 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Gliosis, Episodic respiratory distress, Dysmetria, Intention tremor, Unilateral vocal cord paraly... |
OMIM:301790 |
Sialidosis Type 1 |
|
Ataxia, EEG abnormality, Decreased nerve conduction velocity, Myoclonus, Gait disturbance, Tremor... |
ORPHA:812 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Delayed myelination, Myoclonus, Respiratory insufficiency, Rigidity, Athetosis... |
OMIM:618241 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Apnea, Loss of ambulation, Clumsiness, Episodic tachypnea, Poor fine motor coor... |
ORPHA:79264 |
Multifocal Motor Neuropathy |
|
Fasciculations, Motor conduction block |
ORPHA:641 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Babinski sign, Head titubation, Optic atroph... |
OMIM:618688 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Loss of ambulation, Ataxia, Babinski sign, Tachypnea, Gait disturbance, Optic disc pallor, Spasti... |
OMIM:615838 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Transposition of the great arteries, Truncus arteriosus |
OMIM:612474 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Disproportionate short... |
OMIM:271530 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Abnormal autonomic nervous system physiology, Dysdiadochokinesis, Oculogyric crisis, Park... |
OMIM:618049 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis |
OMIM:114065 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Pseudopapilledema, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Hypertonia, Pneumonia |
OMIM:254120 |
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 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
Infantile Krabbe Disease |
|
Respiratory distress, Failure to thrive, Decreased nerve conduction velocity, Opisthotonus, Ankle... |
ORPHA:206436 |
Charcot-Marie-Tooth Disease Type 4C |
|
Failure to thrive, Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve ... |
ORPHA:99949 |
Cerebellar-Facial-Dental Syndrome |
|
Dental malocclusion, Failure to thrive, Taurodontia, Macrodontia of permanent maxillary central i... |
ORPHA:444072 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, CNS hypomyelination |
OMIM:616494 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia |
ORPHA:101005 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Short eyelashes, Micrognathia, Hyperplasia of the maxilla, Osteopenia, Polyd... |
OMIM:612731 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Abnormalit... |
ORPHA:48431 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve |
OMIM:614823 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Gait ataxia, Weight loss |
OMIM:612075 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Huntington Disease-Like 1 |
|
Gliosis, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, EEG abnormality, Simu... |
ORPHA:157941 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Loss of ambulation, EEG abnormality, Decreased nerve conduction velocity, Tip-toe g... |
ORPHA:565624 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis |
OMIM:185500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Tracheomalacia, Respiratory insufficien... |
OMIM:615490 |
Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotensio... |
ORPHA:97355 |
Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Dysmetri... |
OMIM:164400 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Fragmented epiphyses, Epiphyseal dysplasia, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormal pyramidal sign, Cerebral hypomyelination, Head tremor, Athetosis, Dystonic gait,... |
ORPHA:280219 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Omodysplasia 1 |
|
Rhizomelia, Umbilical hernia, Anterolateral radial head dislocation, Disproportionate short-limb ... |
OMIM:258315 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short stature, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foo... |
OMIM:605274 |
Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Clinodactyly of the 5th finger, Retrognathia, Pes cavus, Optic atrophy, Tremor, Choreoath... |
OMIM:619422 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Axonal degeneration, Paradoxical respiration, Peripheral axonal neuropathy,... |
OMIM:620011 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
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Abnormal lower motor neuron morphology |
OMIM:611067 |
Tuberculosis |
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Weight loss, Cough |
ORPHA:3389 |
Spastic Ataxia 2, Autosomal Recessive |
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Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Pleoconial Myopathy With Salt Craving |
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Paralysis |
OMIM:262900 |
Idiopathic Achalasia |
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Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough |
ORPHA:930 |
Tremor, Hereditary Essential, 1 |
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Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Cednik Syndrome |
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Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia |
ORPHA:66631 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Abnormal lower motor neuron morphology |
ORPHA:95434 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
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Ataxia, Dysmetria, Peripheral axonal neuropathy, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
Spinocerebellar Ataxia 48 |
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Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
Dystonia 28, Childhood-Onset |
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Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Laryngeal Abductor Paralysis |
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Paralysis, Congenital laryngeal stridor |
OMIM:308850 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Ataxia, Loss of ambulation, Dysmetria, Leukodystrophy, Babinski sign, Optic atrophy, Tremor, Spas... |
OMIM:607694 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
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Progressive cerebellar ataxia, Demyelinating peripheral neuropathy, Dysmetria, Vestibular areflex... |
ORPHA:504476 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:241530 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Abnormality of e... |
OMIM:300894 |
Paget Disease Of Bone 2, Early-Onset |
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Paraparesis, Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the long bones, T... |
OMIM:602080 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ataxia, Tachypnea, Tremor, CNS demyelination, Peripheral demyelination |
OMIM:220111 |
Orofaciodigital Syndrome Iv |
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Postaxial polydactyly, Short stature, Micrognathia, Short tibia, Brachydactyly, Epicanthus, Short... |
OMIM:258860 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Failure to thrive, Ataxia, Gliosis, Inability to walk, Cerebral hypomyelination, Titubation, Abno... |
ORPHA:280210 |
Migraine, Familial Hemiplegic, 1 |
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Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
Epilepsy, Progressive Myoclonic 7 |
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Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Respiratory distress, Hypertonia, Ataxia, Failure to thrive, Myoclonus, Spasticity |
OMIM:618426 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Failure to thrive, Ataxia, Limb hypertonia, Myoclonus, Rigidity, Optic atrophy, Tremor, Difficult... |
ORPHA:442835 |
Neurofibromatosis Type 1 |
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Joint stiffness, Ataxia, Hydrocephalus, Plexiform neurofibroma, Recurrent fractures, Abnormal hip... |
ORPHA:636 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
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Respiratory distress |
ORPHA:2680 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walkin... |
ORPHA:477673 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Vocal cord paresis, ... |
OMIM:601152 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Mic... |
OMIM:211350 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
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Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Hypertonia, Dysmyelinating leukodystrophy, Loss of ambulation, Progressive cerebellar ataxia, Spa... |
ORPHA:137898 |
Emphysema, Congenital Lobar |
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Respiratory distress |
OMIM:130710 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Multiple System Atrophy, Parkinsonian Type |
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Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... |
ORPHA:98933 |
Ear-Patella-Short Stature Syndrome |
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Failure to thrive, Clinodactyly of the 5th finger, Severe short stature, Craniosynostosis, Retrog... |
ORPHA:2554 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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