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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Resp... OMIM:605253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental periphe... 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
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
Abnormal lower motor neuron morphology OMIM:611067
Tuberculosis
Weight loss, Cough ORPHA:3389
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Pleoconial Myopathy With Salt Craving
Paralysis OMIM:262900
Idiopathic Achalasia
Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough ORPHA:930
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Tremor, Gait ataxia, Steppage gait OMIM:618387
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Laryngeal Abductor Paralysis
Paralysis, Congenital laryngeal stridor OMIM:308850
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Leukodystrophy, Babinski sign, Optic atrophy, Tremor, Spas... OMIM:607694
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Demyelinating peripheral neuropathy, Dysmetria, Vestibular areflex... ORPHA:504476
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:241530
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormal autonomic nervous system physiology, Abnormality of e... OMIM:300894
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Sclerosis of skull base, Short femur, Femoral bowing, Fractures of the long bones, T... OMIM:602080
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Tachypnea, Tremor, CNS demyelination, Peripheral demyelination OMIM:220111
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short stature, Micrognathia, Short tibia, Brachydactyly, Epicanthus, Short... OMIM:258860
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Ataxia, Gliosis, Inability to walk, Cerebral hypomyelination, Titubation, Abno... ORPHA:280210
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Hypertonia, Ataxia, Failure to thrive, Myoclonus, Spasticity OMIM:618426
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Limb hypertonia, Myoclonus, Rigidity, Optic atrophy, Tremor, Difficult... ORPHA:442835
Neurofibromatosis Type 1
Joint stiffness, Ataxia, Hydrocephalus, Plexiform neurofibroma, Recurrent fractures, Abnormal hip... ORPHA:636
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
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
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Vocal cord paresis, ... OMIM:601152
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Mic... OMIM:211350
Spinocerebellar Ataxia, Autosomal Recessive 16
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
Hypertonia, Dysmyelinating leukodystrophy, Loss of ambulation, Progressive cerebellar ataxia, Spa... ORPHA:137898
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Progressive cerebellar ataxia, Autonomic erectile dysfunction, Abnormal autonomic... ORPHA:98933
Ear-Patella-Short Stature Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Severe short stature, Craniosynostosis, Retrog... ORPHA:2554
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction