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Gene: Egr2 MGI:95296

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
early growth response 2
Synonyms:
Krox20,  Egr-2,  Zfp-25,  Krox-20,  NGF1-B

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Egr2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Egr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900

The table below shows human diseases predicted to be associated to Egr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le... OMIM:607694
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Loss ... OMIM:603511
Multifocal Motor Neuropathy
Motor conduction block, Fasciculations ORPHA:641
Yuan-Harel-Lupski Syndrome
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Failure to thr... OMIM:616652
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Growth delay, Dystonia, Clinodactyly of the 5th f... OMIM:619422
Kyphomelic Dysplasia
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
Spastic ataxia, Impaired distal proprioception, Tremor, Dysmyelinating leukodystrophy, Unsteady g... ORPHA:137898
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurr... OMIM:264700
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Respiratory failure,... ORPHA:280210
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebella... ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Rabies
Vocal cord paresis, Cerebral palsy, Paresthesia ORPHA:770
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor ORPHA:397744
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Chorea, Babinski sign, Optic atroph... OMIM:164400
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... OMIM:617302
Isaacs Syndrome
EEG abnormality, Fasciculations, Weight loss ORPHA:84142
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:241530
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor OMIM:620158
Ear-Patella-Short Stature Syndrome
Failure to thrive, Severe short stature, Camptodactyly of finger, Aplastic clavicle, Craniosynost... ORPHA:2554
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Oculomotor apraxia, Neonatal breathing dysr... OMIM:611560
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis ORPHA:2871
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Abnormal pyramidal sign, Dysmetria, Motor axonal neuropathy, Abnormality of peripheral ne... ORPHA:48431
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, CNS hypomyelination, Upper limb s... ORPHA:300605
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Flexio... ORPHA:96334
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity ORPHA:33445
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Neuropathy, Hereditary Motor And Sensory, Okinawa Type