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