Gene Summary

Name:
eukaryotic translation elongation factor 1 alpha 2
Synonyms:
Eef1a,  S1

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Human diseases caused by Eef1a2 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 Eef1a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Brain atrophy, Cerebral atrophy, Short stature, Limb hypertonia, Myocl... ORPHA:442835
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Seizure OMIM:616409
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Cerebral atrophy OMIM:616393

The table below shows human diseases predicted to be associated to Eef1a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... DECIPHER:29
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Soma... OMIM:612577
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormal pyramidal si... OMIM:617672
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gliosis, Athetosis OMIM:300857
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy OMIM:608030
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Degeneration of anterior horn cells, Pelvic girdle muscle weakness, Low... OMIM:253400
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy... OMIM:105550
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Abnormal lower motor neuron morpholog... ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Demyelinating motor neuropathy, Decr... ORPHA:206594
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Optic Atrophy With Demyelinating Disease Of Cns
Ataxia, Optic neuritis, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination OMIM:165200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:607734
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment, Pro... OMIM:604484
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Neurodegeneration, Motor... ORPHA:803
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Null Syndrome
Ataxia, Abnormal cerebellum morphology, Demyelinating peripheral neuropathy, Decreased nerve cond... ORPHA:280234
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... ORPHA:65684
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Pallor o... OMIM:602433
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor n... OMIM:302800
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Developmental And Epileptic Encephalopathy 14
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:614959
Krabbe Disease
Hypertonia, Failure to thrive, Decreased nerve conduction velocity, Decerebrate rigidity, Autoimm... OMIM:245200
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Cerebral cortical atrophy, Limb ataxia, Degeneration of anterior horn cells, Basal gangli... OMIM:607596
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Favorable response of weakness to acetylcholine esterase inhibitors, Fatigab... ORPHA:353327
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:602099
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Seizure OMIM:604218
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Short stature, Intention tremor, Bab... ORPHA:397946
Huntington Disease
Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Seizure OMIM:143100
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Ataxia, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Sin... OMIM:613179
Immunodeficiency 54
Intrauterine growth retardation, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomeg... OMIM:609981
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I... ORPHA:276
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Cere... ORPHA:1320
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Abnormal upper motor neuron morphology ORPHA:247604
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Flexion contracture, Degeneration of anterior horn cells, Spinal mus... OMIM:301830
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Cerebral atrophy, Gait ataxia, Cerebellar atrophy OMIM:618369
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... OMIM:601098
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Lymphopenia, Short stature, Tremor, Decreased circulating antibody lev... ORPHA:100
Spinocerebellar Ataxia Type 43
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... ORPHA:497764
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb fo... OMIM:609260
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... ORPHA:275872
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnorm... OMIM:614561
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy, Neurogenic bladder OMIM:615911
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:614895
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Distal sensory impairment, Abnormal upper motor neuron morphology, Pares... OMIM:263570
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Optic neuritis, Myelitis, Paraplegia, Peripheral demyeli... ORPHA:71211
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Hepatomegaly, Leukodystrophy, Hepatosplenomegaly, Hemiparesis, Absence of lymph node... ORPHA:79124
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Short stature, Decreas... OMIM:604168
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... OMIM:214400
Huntington Disease-Like 2
Cerebral cortical atrophy, Parkinsonism, Chorea, Involuntary movements, Weight loss, Caudate atro... ORPHA:98934
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Myoclonus, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... OMIM:614946
Hypertrophic Neuropathy Of Dejerine-Sottas
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... OMIM:145900
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyelination, Spastic tetra... OMIM:249900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... ORPHA:1145
Diaminopentanuria
Neurodegeneration, Seizure OMIM:222350
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Hemimegalencephaly
Status epilepticus, Focal motor seizure, Gliosis, Atonic seizure, Myoclonus, Epileptic spasm, Sei... ORPHA:99802
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Babinski sign, Spastic ataxia, Spastic paraparesis OMIM:613672
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atrophy, EMG: myopathic abnormali... ORPHA:52430
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... OMIM:605809
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Fatigable weakness, Prolonged miniature endplate currents, Limb musc... OMIM:603034
Alpers-Huttenlocher Syndrome
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Ataxia, Pancreatitis, Hepatomegaly, Leukopenia, Tetraparesis, Optic atrophy, Macrocy... ORPHA:27
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Optic atrophy, Tremor, Abnormal nerve conduction velocity ORPHA:99014
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia, Optic atro... OMIM:615035
Spinocerebellar Ataxia 43
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Distal amyotrophy, Skelet... OMIM:608627
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Progressive distal muscular atrophy, Spinal muscular atrophy... OMIM:159950
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... OMIM:254210
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spasticity, A... OMIM:221770
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Mast Syndrome
Abnormal cerebellum morphology, Spastic paraparesis, Babinski sign, Spastic paraplegia, Apraxia OMIM:248900
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Gliosis, Corpus callosum atrophy, Seizure, Global brain ... OMIM:221820
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity OMIM:611105
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... OMIM:118200
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Hypertonia, Clumsiness, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Slu... ORPHA:2386
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Distal amyotrophy, Gait ataxia, Abnormal upper motor neuron morp... OMIM:215470
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Babinski sign OMIM:300660
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle weakness, Gliosis, Decreased nerve conduction velocity, Trophic limb changes, Ort... OMIM:118301
Adult Krabbe Disease
Hemiplegia, Ataxia, Clumsiness, Abnormal pons morphology, Hoffmann sign, Babinski sign, Abnormal ... ORPHA:206448
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Seizure OMIM:613002
Spinocerebellar Ataxia Type 25
Abnormal cerebellar cortex morphology, Decreased number of large peripheral myelinated nerve fibe... ORPHA:101111
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... OMIM:605285
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stabilit... OMIM:600546
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... OMIM:607706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Onion bulb formation OMIM:618279
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
Carcinoma Of Esophagus
Obesity, Weight loss, Lymphadenopathy ORPHA:70482
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Neuronal loss in central nervous system, Gliosis, Generalized myoclonic seizure, Myoclonic spasms... OMIM:614498
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Voca... OMIM:162500
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Degeneration of anterior horn cells, Abnormal lower motor neuron m... ORPHA:276244
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... OMIM:606483
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia ORPHA:101005
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Fatigable weakness, Hand muscle atrop... OMIM:601462
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Dystonia, Peripheral demyelination, Axonal loss OMIM:616684
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... OMIM:607483
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... ORPHA:100070
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... OMIM:118220
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Failure to thrive, Short stature, Bone marrow hypocellulari... OMIM:605724
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... ORPHA:101097
N Syndrome
Cryptorchidism, Leukemia, Spasticity, Abnormality of chromosome stability OMIM:310465
Immunodeficiency 104
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... OMIM:608971
Autosomal Recessive Spastic Paraplegia Type 43
Poor fine motor coordination, Spastic paraparesis, Babinski sign, Spasticity, Spastic gait ORPHA:320370
Nijmegen Breakage Syndrome-Like Disorder
Ataxia, Short stature, Chromosomal breakage induced by ionizing radiation, Spasticity, Growth delay OMIM:613078
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Triceps weakness, Shoulder girdle muscle weakness, EMG: myopa... ORPHA:98913
Spastic Paraparesis-Deafness Syndrome
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Short stature ORPHA:2815
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy, Generalized myoclonic seizure OMIM:610951
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... OMIM:118210
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia, Abnormality of chromosome stability OMIM:614082
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Tremor, Increased hepatocellular lip... OMIM:220111
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Spinocerebellar Ataxia 17
Neuronal loss in central nervous system, Gliosis, Ataxia, Limb ataxia, Dysmetria, Positive Romber... OMIM:607136
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Decreased body weight, Cerebral atrophy, Short stature, Myoclonus, Cerebellar ... OMIM:619060
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Cerebral atrophy, Paucity of anterior horn motor neurons, Abnormal anterior horn... OMIM:611890
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Gliosis, Seizure OMIM:225753
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Short stature, Atrophy/Degeneration affectin... OMIM:617862
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Retrocollis, Hand muscle atrophy, Spasticity of facial mus... OMIM:205100
Hodgkin Lymphoma
Ataxia, Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:98293
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... ORPHA:2932
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Hepatic fibrosis, Spasti... OMIM:616719
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination OMIM:162600
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Congenital Neuronal Ceroid Lipofuscinosis
Status epilepticus, Gliosis, Myoclonic seizure, Abnormal astrocyte morphology, Cerebellar atrophy... ORPHA:168486
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Cerebral atrophy, Cerebellar atrophy, Small for gestational age OMIM:615095
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebellar atrophy, Seizure OMIM:612936
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic ... ORPHA:100083
Multiple Sulfatase Deficiency
Ataxia, Hepatomegaly, Cerebral atrophy, Splenomegaly, Short stature, Spasticity, Cerebellar atrop... OMIM:272200
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination OMIM:608236
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Peripheral axonal neuropathy, Optic atrophy, Progressive spastic paraparesis, Cerebellar atrophy,... ORPHA:496756
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Leukodystrophy, Hypomyelinating, 11
Failure to thrive, Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, CNS... OMIM:616494
Charcot-Marie-Tooth Disease, Type 4J
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... OMIM:611228
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Ankle clonus, Knee clonus, Babinski sign, Spastic paraplegia, ... OMIM:604360
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Gliosis, Dysmetria, Limb ataxia, Gait ataxia OMIM:213200
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Postnatal growt... OMIM:609054
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Demyelinating motor neuropathy, Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressiv... ORPHA:506353
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita, Decreased miniatur... OMIM:608930
Leukodystrophy, Hypomyelinating, 3
Failure to thrive, Spastic paraparesis, Leukodystrophy, Sudanophilic leukodystrophy, Abnormal pyr... OMIM:260600
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic eventration, Degeneration... OMIM:604320
Juvenile Huntington Disease
Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidi... ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... OMIM:615362
Galloway-Mowat Syndrome 5
Brain atrophy, Ataxia, Spasticity, Peripheral demyelination OMIM:617731
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy OMIM:141500
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity OMIM:302802
L-2-Hydroxyglutaric Aciduria
Gliosis, Corpus callosum atrophy, Cerebellar atrophy, Seizure, Global brain atrophy OMIM:236792
Leukodystrophy, Hypomyelinating, 2
Ataxia, Cerebral atrophy, Spastic paraparesis, Demyelinating motor neuropathy, Intention tremor, ... OMIM:608804
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Metachromatic Leukodystrophy
Ataxia, Gallbladder dysfunction, Decreased nerve conduction velocity, Babinski sign, Chorea, Chol... OMIM:250100
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... OMIM:607317
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice ORPHA:79238
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Cerebellar atrophy OMIM:615945
Leukodystrophy, Hypomyelinating, 6
Ataxia, Short stature, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor,... OMIM:612438
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Peripheral demyelination, Small fo... OMIM:616733
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... ORPHA:444463
Spinocerebellar Ataxia 23
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... OMIM:610245
Gaucher Disease, Type Iii
Ataxia, Decreased body weight, Hepatomegaly, Spastic paraparesis, Splenomegaly, Short stature, My... OMIM:231000
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Fatigable weakness, Increased variabil... ORPHA:2593
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... OMIM:618093
Peroxisome Biogenesis Disorder 8B
Failure to thrive, Ataxia, Cerebellar vermis atrophy, Spastic paraparesis, Dysmetria, Leukodystro... OMIM:614877
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia OMIM:606438
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Pseudopapilledema, Tetraparesis, Paralysis ORPHA:140989
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Myoclonus, Abnor... OMIM:615924
Autosomal Recessive Spastic Paraplegia Type 35
Cerebral cortical atrophy, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Pontocereb... ORPHA:171629
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Gait ataxia, Peripheral demyelination OMIM:258650
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... ORPHA:99953
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... OMIM:615157
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Neurodegeneration, T... OMIM:300894
Machado-Joseph Disease
Ataxia, Gliosis, Progressive cerebellar ataxia, Abnormal autonomic nervous system physiology, Lim... OMIM:109150
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Cerebral dysmyelination, Ataxia, Dysmyelinating leukodystrophy, Demyelinating periph... OMIM:609136
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Ataxia, Lower-limb joint contracture, Muscle fiber atrophy, Upper-... ORPHA:300605
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... OMIM:607458
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... OMIM:605253
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Infectious encephalitis, Weight loss, Lymphadenopathy ORPHA:42642
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Cerebellar atrophy ORPHA:423296
Sporadic Creutzfeldt-Jakob Disease
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Astrocytosis ORPHA:204
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Intellectual Developmental Disorder, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Gr... OMIM:619164
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Peripheral axonal neuropathy, Peripheral demyelination OMIM:205400
Glut1 Deficiency Syndrome 2
Ataxia, Cerebral atrophy, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosi... OMIM:612126
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Neurodegeneration, Cerebellar... OMIM:256600
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:609311
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... ORPHA:545
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Seizure ORPHA:357225
Leukodystrophy, Hypomyelinating, 5
Abnormal cerebellum morphology, Truncal titubation, Intention tremor, Leukodystrophy, Onion bulb ... OMIM:610532
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Pauci... OMIM:253310
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski ... OMIM:270500
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Abnormal cerebellar... ORPHA:33445
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... ORPHA:79262
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Skin rash, Hepatos... OMIM:619924
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Gliosis, Brain atrophy, Small for gestational age, Neurodegeneration, Diffuse ... OMIM:214150
Spinocerebellar Ataxia Type 40
Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocerebellar atrophy, Ga... ORPHA:423275
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Rigidity, Hemolytic anemia, Tremor, Dystonia OMIM:615010
Neurodegeneration With Brain Iron Accumulation 6
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Rigidity, Neurodegeneration, Spastic t... OMIM:615643
Reticular Dysgenesis
Failure to thrive, Skin rash, Leukopenia, Chronic otitis media, Abnormality of neutrophils, Weigh... ORPHA:33355
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Decreased number of large peripheral mye... OMIM:270550
Spastic Paraplegia 20, Autosomal Recessive
Abnormal cerebellum morphology, Upper limb spasticity, Spastic paraparesis, Dysmetria, Short stat... OMIM:275900
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... OMIM:615768
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Abnormal cerebellum morphology... ORPHA:98762
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... OMIM:605588
Farber Disease
Paraparesis, Failure to thrive, Brain atrophy, Short stature, Myoclonus, Hepatosplenomegaly, Thro... ORPHA:333
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocerebellar atrophy OMIM:616053
Abetalipoproteinemia
Ataxia, Acanthocytosis, Peripheral demyelination, CNS demyelination OMIM:200100
Classic Hodgkin Lymphoma
Ataxia, Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphade... ORPHA:391
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Abnormal cerebellum morphology, Pseudobulbar paralysis, Leukodystrophy, Babinski sign, Co... OMIM:169500
Combined Oxidative Phosphorylation Deficiency 24
Status epilepticus, Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Cerebell... OMIM:616239
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Postnat... ORPHA:391417
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decreased number of periphe... OMIM:600882
Immunodeficiency 64
Failure to thrive, Decreased circulating IgG level, Increased circulating IgA level, Defective T ... OMIM:618534
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Optic atrophy, Tremo... ORPHA:329284
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism... ORPHA:521406
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Cerebellar atrophy, Myoclonus OMIM:616187
Glutaric Acidemia I
Failure to thrive, Delayed myelination, Hepatomegaly, Opisthotonus, Spastic diplegia, Rigidity, C... OMIM:231670
Spinal muscular atrophy, type I, with congenital bone fractures
Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration of anterior horn cells... OMIM:271225
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Rhabdoid Tumor
Hemiplegia, Neoplasm of the liver, Cerebral palsy, Thrombocytopenia, Weight loss, Anemia, Lymphad... ORPHA:69077
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Short stature, Abnormal pyramidal sign, Optic atrophy, Tremor, Incoordination, Obesity OMIM:614947
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... OMIM:611302
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... ORPHA:363710
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Optic atrophy, Cerebellar atrophy OMIM:210000
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Demyelinating peripheral neuropathy, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadoc... ORPHA:313772
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Ce... OMIM:616291
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Dystonia, Babinski sign, Spastic dysarthria, Spastic paraplegia, Tremor,... ORPHA:251282
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:607271
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Cerebral atrophy, Leukodystrophy, Decreased motor nerve conduction velocity... OMIM:619851
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Failure to thrive, Dystonia OMIM:619651
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... OMIM:618184
Gabriele-De Vries Syndrome
Delayed myelination, Tremor, Cryptorchidism, Intrauterine growth retardation, Dystonia OMIM:617557
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Huntington Disease-Like 1
Gliosis, Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Weight loss ORPHA:157941
Fanconi Anemia, Complementation Group V
Short stature, Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslin... OMIM:617243
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Adducted Thumbs Syndrome
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita OMIM:201550
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Apla... OMIM:610185
Leishmaniasis
Increased circulating antibody level, Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal ... ORPHA:507
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Ataxia, Decreased circulating IgA level, Chromosome breakage, Abnormality of chromosome stability... OMIM:208910
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Ataxia, Cerebellar vermis atrophy, Failure to thrive, Short stature, Int... OMIM:312080
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Small for gestational age, Increased body mass index, Truncal obesity, Seizure OMIM:300957
Adrenoleukodystrophy
Paraparesis, Limb ataxia, Truncal ataxia, Neurodegeneration, Spastic paraplegia, Incoordination, ... OMIM:300100
X-Linked Charcot-Marie-Tooth Disease Type 3
Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerve conduction veloci... ORPHA:101077
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Ataxia, Osteomyelitis leading to amputation due to slow healing fractures, Hep... OMIM:256810
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness ORPHA:2590
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebral cortical atrophy, Dysmetria, Short stature, Leukodystrophy, Babinski sign, Optic... OMIM:607694
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Cerebral atrophy, Short stature, Delayed peripheral myelination, Progressive spastic para... ORPHA:464282
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Status epilepticus, Gliosis, Cerebral atrophy, Small for gestational age, Myoclonus, Febrile seiz... OMIM:619847
Huntington Disease
Clumsiness, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Myoclonus, Babinski sig... ORPHA:399
Tuberculosis
Weight loss ORPHA:3389
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Tremor, Spasticity, Growth delay OMIM:278780
Riddle Syndrome
Ataxia, Clumsiness, Demyelinating peripheral neuropathy, Decreased circulating IgA level, Decreas... ORPHA:420741
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging ORPHA:3417
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Limb ataxia, Axonal degener... OMIM:208920
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria OMIM:612437
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Olivopontocerebellar atrophy, Op... OMIM:164500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Failure to thrive, Neuronal loss in central nervous system, Gliosis, Myoclonu... OMIM:203700
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
Pyruvate Dehydrogenase E1-Alpha Deficiency
Gliosis, Cerebral atrophy, Cerebellar gliosis, Small for gestational age, Infantile spasms, Basal... ORPHA:79243
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Fanconi Anemia, Complementation Group S
Failure to thrive, Ovarian neoplasm, Chromosome breakage, Short stature, Anemia OMIM:617883
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Degeneration of the lateral corticospinal tracts, Clon... OMIM:600363
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Optic atrophy, Tremor, Spasticity, Delayed CNS myelination OMIM:300983
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Opt... ORPHA:254343
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... ORPHA:98856
Cerebrotendinous Xanthomatosis
Paraparesis, Cholelithiasis, Ataxia, Hypermyelinated retinal nerve fibers, Axonal degeneration, B... ORPHA:909
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Fanconi Anemia, Complementation Group I
Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Opti... OMIM:609053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopen... OMIM:601457
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Autosomal Recessive Spastic Paraplegia Type 11
Paraparesis, Ataxia, Cerebral cortical atrophy, Frontal cortical atrophy, Parkinsonism, Periphera... ORPHA:2822
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Lymphangioma ORPHA:53721
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Osteomye... OMIM:162400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Seizure OMIM:608033
4H Leukodystrophy
Ataxia, Decreased response to growth hormone stimulation test, Dysmetria, Short stature, Dysdiado... ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth ven... OMIM:614831
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... ORPHA:79263
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Leukoencephalopathy With Vanishing White Matter
Gliosis, Seizure OMIM:603896
Pseudomyxoma Peritonei
Weight loss, Lymphadenopathy, Inflammation of the large intestine, Abnormality of the peritoneum ORPHA:26790
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Peripheral axonal neuropathy, Tremor, Gait ataxia, Cerebellar atrophy OMIM:618387
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Ataxia, Decreased sensory nerve conduction velocity, Peripheral demyelination OMIM:609033
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Leigh Syndrome
Failure to thrive, Gliosis, Seizure OMIM:256000
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Short stature, Myoclonus, C... OMIM:617284
Developmental And Epileptic Encephalopathy 82
Decreased body weight, Cerebral atrophy, Spastic paraparesis, Short stature, Cerebellar vermis hy... OMIM:618721
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... ORPHA:3226
Charcot-Marie-Tooth Disease, Type 4D
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... OMIM:601455
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Felty Syndrome
Sinusitis, Rhinitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morpho... ORPHA:47612
Lig4 Syndrome
Hepatomegaly, Leukocytosis, Pancytopenia, Growth delay, Cryptorchidism, Lymphadenopathy, Acute le... ORPHA:99812
Spastic Paraplegia 9A, Autosomal Dominant
Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness, Impai... OMIM:601162
Isaacs Syndrome
Fasciculations, Weight loss ORPHA:84142
Spastic Paraplegia 75, Autosomal Recessive
Spastic paraparesis, Dysmetria, Babinski sign, Corpus callosum atrophy, Spastic dysarthria, Optic... OMIM:616680
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Gliosis, Overweight, Seizure ORPHA:457240
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... ORPHA:98763
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Progressive cerebellar ataxia, Sensory ataxia... ORPHA:99857
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Short stature, Abnormality of the lymphat... ORPHA:47
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Gliosis, Abnormal synaptic transmission, Cerebral cortic... ORPHA:683
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Intention tremor, Leukodystrophy, Dy... OMIM:614381
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Short stature, Biliary atresia, Bone marrow hypocellularity, Growth delay OMIM:615272
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Spinocerebellar Ataxia 25
Ataxia, Babinski sign, Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy... OMIM:608703
Wilson Disease
Failure to thrive, Clumsiness, Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic st... ORPHA:905
Meige Disease
Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of lymph node germinal center... ORPHA:90186
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Abnormal CNS myelination ORPHA:477673
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Optic atrophy, Spasticity, Delayed CNS myelination, Spastic tetraparesis, Pericardi... OMIM:619487
Thymic Carcinoma
Weight loss, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Neoplasm of the thymus ORPHA:99868
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Cerebral atrophy, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Growth delay, ... OMIM:252160
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Chiari type I malformation, Dystonia OMIM:617836
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Cerebral cortical atrophy, Chorea, Optic atrophy, Congenital contracture OMIM:277470
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... OMIM:218000
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Decreased nerve conduction velocity, Short stature, Tremor ORPHA:1368
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Dilated fourth ventricle, Tremor, Di... ORPHA:1170
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Degeneration of the lateral corticospinal tracts, Progressive spastic paraparesis,... ORPHA:444099
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Poor gross motor coordination, Decreased number of large peripheral my... ORPHA:99948
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy OMIM:612016
Myopathy With Extrapyramidal Signs
Growth delay, Ataxia, Clumsiness, Hepatomegaly, Leukocytosis, Splenomegaly, Peripheral axonal neu... OMIM:615673
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Progressive spastic paraparesis, Paralysis, Incoordination ORPHA:43
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Fragile X Syndrome
Macroorchidism, postpubertal, Recurrent hand flapping, Congenital macroorchidism, Folate-dependen... OMIM:300624
Fragile X Syndrome
Sinusitis, Cerebral cortical atrophy, Otitis media, Folate-dependent fragile site at Xq28, Chroni... ORPHA:908
Poliomyelitis
Paraparesis, Hyperkinetic movements, Myelitis, Abnormal motor nerve conduction velocity, Paralysi... ORPHA:2912
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Fanconi Anemia, Complementation Group F
Failure to thrive, Cryptorchidism, Decreased response to growth hormone stimulation test, Short s... OMIM:603467
Majeed Syndrome
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Co... ORPHA:77297
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, ... ORPHA:83469
Spinocerebellar Ataxia, X-Linked 3
Neuronal loss in central nervous system, Gliosis, Dysmetria, Optic atrophy, Optic disc pallor, Ce... OMIM:301790
Riboflavin Transporter Deficiency
Ataxia, Cerebral cortical atrophy, Cachexia, Myoclonus, Tremor, Optic disc pallor, Abnormal crani... ORPHA:97229
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Synaptic Congenital Myasthenic Syndromes
Abnormal synaptic transmission at the neuromuscular junction, Hand muscle weakness, Right ventric... ORPHA:98915
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Seizure, C... OMIM:602613
Revesz Syndrome
Hypertonia, Ataxia, Aplastic anemia, Cerebellar hypoplasia, Bone marrow hypocellularity, Intraute... OMIM:268130
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Neuroendocrine neoplasm, Chronic noninfectious ly... ORPHA:97289
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Ataxia, Failure to thrive, Severe demyelination of the white matter, Poor f... ORPHA:79282
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Cerebral cortical atrophy, Hepatomegaly, Decreased nerve conduction velocity, ... OMIM:238970
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Spastic Ataxia 5, Autosomal Recessive
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Cerebellar atr... OMIM:614487
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Delayed menarche, Oculogyric crisis, Optic atrophy, Tremor, Diffuse cerebral atrophy, Cerebellar ... ORPHA:330050
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Limb hypertonia, Pneumonia, Pancytopenia, Spastic tetraparesis, Weight loss, Lower ... OMIM:615846
Pleural Mesothelioma
Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:50251
3-Methylglutaconic Aciduria Type 3
Ataxia, Choreoathetosis, Spastic paraparesis ORPHA:67047
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Fanconi Anemia, Complementation Group B
Aplastic anemia, Cerebellar hypoplasia, Patent ductus arteriosus, Delayed CNS myelination, Growth... OMIM:300514
Christianson Syndrome
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Cachexia, T... ORPHA:85278
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Igg4-Related Pachymeningitis
Paraparesis, Sinusitis, Pancreatitis, Nephritis, Eosinophilia, Lymphadenitis, Increased circulati... ORPHA:449427
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait ataxia, Spasticity, Cerebellar atro... OMIM:617810
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... ORPHA:98850
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Recurrent skin infections, Short stature, Tre... OMIM:617744
Kaposi Sarcoma
Skin rash, Abnormality of the spleen, Generalized lymphadenopathy, Weight loss, Abnormality of th... ORPHA:33276
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Dysmyelinating leukodystrophy, Clumsiness, Progressive cerebellar ataxia, Poor fine m... ORPHA:137898
Rift Valley Fever
Paraparesis, Skin rash, Decerebrate rigidity, Hemiparesis, Increased circulating IgG level, Hepat... ORPHA:319251
Mulibrey Nanism
Cachexia, Intrauterine growth retardation, Hepatomegaly, Short stature ORPHA:2576
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Neuronal loss in central nervous system, Gliosis, Generalized tonic seizure, Epileptic spasm, Atr... OMIM:617193
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Abnormal pyramidal sign, Sensory axonal neuropathy, Spastic parap... OMIM:256850
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity OMIM:619028
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Brain atrophy, Cerebral atrophy, Short stature, Limb hypertonia, Myocl... ORPHA:442835
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Perry Syndrome
Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity OMIM:615284
Icf Syndrome
Lymphopenia, Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Ane... ORPHA:2268
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss, Cerebral cortical atrophy, Abnormal eosinophil morphology ORPHA:1164
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Cerebellar atrophy, Dysmetria OMIM:617917
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Spastic tetraparesis, Grow... OMIM:252150
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Growth delay, Parkinsonism, Hyperkinetic movements, Chorea, Tr... OMIM:619738
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Ataxia, Cerebral atrophy, Dysmetria, Limb hypertonia, Athetosis, Optic atrophy, Tremo... OMIM:617710
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Gait ataxia, Cachexia OMIM:612075
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Cerebral atrophy, Tremor, Neutropenia, Growth delay, Dystonia OMIM:617248
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Dy... ORPHA:139485
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hypertonia, Abnormal peripheral myelination, Brain atrophy, Tongue tremor, Atopic dermatitis, Bab... ORPHA:466768
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Ataxia, Failure to thrive, Cerebellar hypoplasia, Tremor, Delayed CNS myelination OMIM:619556
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Arnold-Chiari Malformation Type Ii
Paraparesis, Ataxia, Opisthotonus, Abnormal medulla oblongata morphology, Paraplegia, Spasticity,... ORPHA:1136
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Ataxia, Weight loss OMIM:613662
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem, Seizure OMIM:612319
Bilateral Perisylvian Polymicrogyria
Paraparesis, Facial diplegia, Pseudobulbar paralysis, Dysmetria, Limb hypertonia, Oromotor apraxi... ORPHA:98889
Lissencephaly, X-Linked, 2
Gliosis, Seizure OMIM:300215
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage, Short stature OMIM:613390
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Otitis media, Leukodystrophy, Tics, Spasticity, Intrauterine growth ret... OMIM:619475
Bloom Syndrome
Growth delay, Decreased circulating IgA level, Decreased circulating IgG level, Chromosome breaka... OMIM:210900
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630