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Gene: Eef1a2 MGI:1096317

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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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

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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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
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Cerebral atrophy, Abnormalit... ORPHA:442835
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Intellectual Developmental Disorder, Autosomal Dominant 38
Generalized tonic seizure, Infantile spasms, 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, Impaired pain sensation,... DECIPHER:29
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotr... OMIM:612577
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration, Seizure OMIM:613068
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Amyotrophic Lateral Sclerosis 16, Juvenile
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness OMIM:614373
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, P... OMIM:617672
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Clonus, Ataxia, Dysmet... OMIM:614877
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis OMIM:608030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor ne... OMIM:105550
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... OMIM:253400
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Focal autonomic seizure, Generalized tonic seizure, Gliosis, Neuronal ... OMIM:614959
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Caudate atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy OMIM:617892
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Abnormal lo... ORPHA:95434
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... OMIM:616437
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Cerebral atrophy, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Degeneration of anterior horn cells, Spinal muscular atrophy OMIM:253550
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Skeletal muscle ... OMIM:105400
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:613954
Monomelic Amyotrophy
Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degeneration of anterio... ORPHA:65684
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, ... OMIM:607734
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Decreased num... OMIM:180800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Axonal degeneration, Proximal amyotrophy, Gliosis, Degeneration of ant... OMIM:604484
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Hand tremor, Incoordination, Dysmetria, Axonal degeneration, Decreased number... OMIM:302800
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Cerebral atrophy, Frequent falls, Fasciculations, Peripheral demy... ORPHA:397946
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Seizure, Cerebral atrophy, Myoclonus, Gliosis, Neuronal loss in central nervous system OMIM:604218
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:602099
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Peripheral demyelination, Abn... ORPHA:280234
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Amyotro... ORPHA:803
Huntington Disease
Seizure, Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system OMIM:143100
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T... ORPHA:353327
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Failure to thrive, Postnatal growth retar... OMIM:609981
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag... OMIM:602450
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Krabbe Disease
Optic atrophy, Progressive spasticity, Failure to thrive, Neurodegeneration, Peripheral demyelina... OMIM:245200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Cerebral atrophy... ORPHA:1320
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Ataxia-Telangiectasia
Ataxia, Spasticity, Abnormality of chromosome stability, Failure to thrive, Aplasia/Hypoplasia of... ORPHA:100
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Ataxia, Failure to thrive, Impaired T cell function, Tetraparesis, Lymphopenia, Lymph ... OMIM:613179
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropa... ORPHA:497764
Pontocerebellar Hypoplasia, Type 1A
Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Limb ataxia, Spinal muscula... OMIM:607596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Subacute Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Leukocytosis, Tremor, Axonal loss, Demyelinating motor neuropathy, Incr... ORPHA:206594
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... OMIM:614561
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Multiple joint contractures, Myopathy, Spin... OMIM:301830
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Neuromyelitis Optica Spectrum Disorder
Myelitis, Peripheral demyelination, Paraplegia, Optic neuritis, Neuronal loss in central nervous ... ORPHA:71211
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Chorea, Caudate atrophy, Weight loss, Parkinson... ORPHA:98934
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Basal lamina onion bulb formation, Peripheral demyelination, Gait ataxia, Dec... OMIM:614895
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Leukodystrophy, Pa... ORPHA:79124
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hand tremor, Peripheral demyelination, Babinski sign, Frequent falls, Onion bulb formation OMIM:618279
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Axonal degeneration/regeneration, Tremor, Decreased number of peripher... OMIM:609260
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Decreased testicular size, Peripheral demyelination, Chorea, Axonal degeneratio... OMIM:604168
Diaminopentanuria
Neurodegeneration, Seizure OMIM:222350
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Leukopenia, Macrocytic anemia, Hepatomegaly, Paraparesis, Pancreatit... ORPHA:27
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy DECIPHER:59
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Tremor OMIM:312910
Developmental And Epileptic Encephalopathy 71
Gliosis, Seizure OMIM:618328
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Inter... ORPHA:1145
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, C... ORPHA:52430
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Hemimegalencephaly
Seizure, Epileptic spasm, Myoclonus, Gliosis, Focal tonic seizure, Atonic seizure, Focal motor se... ORPHA:99802
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl... OMIM:605809
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Paresthesia, Distal sensory impairment, Neurogenic bladde... OMIM:263570
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Peripheral axonal neuropathy, Babinski sign, Ataxia OMIM:611105
Nijmegen Breakage Syndrome-Like Disorder
Spasticity, Chromosomal breakage induced by ionizing radiation, Ataxia, Short stature, Decreased ... OMIM:613078
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Fatigable weakness, Myopathy, Type 1 muscle fiber pr... OMIM:603034
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Myoclonus, Pontocerebellar atrophy, Dystonia, Clumsiness, Delayed CNS myelination, Pa... OMIM:617854
Boucher-Neuhauser Syndrome
Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxi... OMIM:215470
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Gait ataxia, Abnormal cerebellar cortex morphology, Babinski sign, De... ORPHA:101111
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Global brain atrophy, Seizure, Corpus callosum atrophy, Gliosis, Neuronal loss in central nervous... OMIM:221820
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Peripheral axonal neuropathy, Babinski sign, Lower limb spasti... OMIM:615035
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy, N... OMIM:608627
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Upper motor neuron dysfunction, ... ORPHA:506353
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... OMIM:214400
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Tongue fasciculations, Peripheral demyelination, Myelin tomacula, Dec... OMIM:145900
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Decreased nerve ... ORPHA:600
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... OMIM:620378
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... OMIM:254210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Gait ataxia, Ataxia, Segmental peripheral demyelination/remyelination... OMIM:601098
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Hypertonia, Slu... ORPHA:2386
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia, Abnormality of chrom... OMIM:600546
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Gait ataxia, Babinski sign, CNS demyelination, Spastic tetraparesis OMIM:249900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... OMIM:221770
Machado-Joseph Disease Type 3
Degeneration of the striatum, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Cerebe... ORPHA:276244
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Seizure OMIM:613002
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Spasticity, Tetraparesis, Progressive spastic paraparesis,... ORPHA:206448
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Pontocerebellar atrophy, Dysmetria,... OMIM:616053
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ... ORPHA:859
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Peripheral axonal... OMIM:607317
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p... OMIM:620542
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... ORPHA:100024
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... OMIM:606483
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failure to thrive, Intrauterin... OMIM:605724
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Ataxia, Arthrogryposis multipl... ORPHA:2254
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Paraparesis, Tremor, Ataxia ORPHA:99014
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... OMIM:615957
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... OMIM:607483
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Dystonia, Peripheral demyelination, Ataxia OMIM:616684
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n... OMIM:205100
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
N Syndrome
Leukemia, Spasticity, Abnormality of chromosome stability, Cryptorchidism OMIM:310465
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Intrauterine growth retardation, Malar rash, Decreased body weight, Increased susceptibility to s... OMIM:618097
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... OMIM:601462
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neu... ORPHA:101097
Autosomal Recessive Spastic Paraplegia Type 43
Spasticity, Spastic paraparesis, Babinski sign, Spastic gait, Poor fine motor coordination ORPHA:320370
Ceroid Lipofuscinosis, Neuronal, 7
Neurodegeneration, Cerebellar atrophy, Generalized myoclonic seizure, Cerebral atrophy OMIM:610951
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... OMIM:118200
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Anemia, Acute myeloid leukemia, Chromosomal breakage i... OMIM:616435
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Intrauterine growth retardation, Splenomegaly, Chilblains, Rigidity, Tremor, Thro... OMIM:615010
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Myoclonus, Decreased body weight, Chromo... OMIM:619060
Spastic Paraparesis-Deafness Syndrome
Short stature, Spastic paraparesis, Hemiplegia/hemiparesis, Ataxia ORPHA:2815
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axon... OMIM:601596
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay OMIM:614082
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Progressive spastic paraparesis, Peripheral axonal neuropathy,... ORPHA:496756
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu... OMIM:608971
Spinocerebellar Ataxia 17
Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Diffuse c... OMIM:607136
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Abnormal upper motor neuron morphology, Decreased compound muscle a... OMIM:606353
Sandhoff Disease, Adult Form
Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Pontocerebellar Hypoplasia, Type 4
Myoclonus, Gliosis, Seizure OMIM:225753
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegi... OMIM:611890
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Limb muscle weakness, Weakness of facial musculature, Type 2 muscle fiber atrophy, Decreased mini... OMIM:608930
Multiple Sulfatase Deficiency
Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, Splenomegaly, Hepatom... OMIM:272200
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Vocal cord paralysis OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Axonal degeneration/regeneration, Decreased number of peripheral myelinated n... OMIM:607706
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Cerebellar atrophy, Tremor ORPHA:217012
Immunodeficiency 27A
Pneumonia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incre... OMIM:209950
Spinocerebellar Ataxia, Autosomal Recessive 2
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Ataxia OMIM:213200
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Chrom... OMIM:609054
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Spastic ataxia, Gliosis, Torticollis,... OMIM:618369
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Cerebellar atrophy, Myoclonus... OMIM:616494
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy, Neuroendo... ORPHA:100083
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... OMIM:118220
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysdiadochokinesis, Myoclonus, Dysmetria, Sp... OMIM:614487
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, Rigidity, Dystonia... ORPHA:248111
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Spastic paraplegia, Obesity, Decreased number of peripheral myelinated... OMIM:604360
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia OMIM:606438
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism... OMIM:618093
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Congenital Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Cerebellar atrophy, Seizure, Abnormal astrocyte morphology, Gliosis, Status ep... ORPHA:168486
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Decreased nerve conduct... OMIM:604320
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Onion bulb formation OMIM:615185
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Spinocerebellar Ataxia 37
Ataxia, Cerebellar atrophy, Tremor, Frequent falls OMIM:615945
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation damage, Growth delay... OMIM:278780
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Sensory axonal neuropathy, Leukodystr... OMIM:608804
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Gaucher Disease, Type Iii
Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Hepatomegaly, ... OMIM:231000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:86893
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Cerebellar atrophy, Small for gestational age, Cerebral atrophy OMIM:615095
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Peripheral demyelination, Small fo... OMIM:616733
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, Generalized dys... ORPHA:171629
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Neuronal ... OMIM:615924
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemipa... ORPHA:444463
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Paralysis, Per... OMIM:605285
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Spasticity, Spastic paraparesis, Cerebral atrophy, Hepatosplenomegaly, Peripheral demyeli... OMIM:609136
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation OMIM:311070
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral scl... ORPHA:300605
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly ORPHA:42642
Spinocerebellar Ataxia Type 38
Gait ataxia, Cerebellar atrophy, Tremor ORPHA:423296
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Machado-Joseph Disease
Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar tract degene... OMIM:109150
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Seizure, Corpus callosum atrophy, Gliosis OMIM:236792
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait... OMIM:607458
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Ab... ORPHA:101110
Metachromatic Leukodystrophy
Optic atrophy, Peripheral demyelination, Chorea, Cholecystitis, Babinski sign, Gallbladder dysfun... OMIM:250100
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... OMIM:608340
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Cerebellar vermis atrophy, Limb ataxia, ... OMIM:616719
Spinocerebellar Ataxia Type 40
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebellar atrophy, Intenti... ORPHA:423275
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Generalized myoclonic seizure, Focal-onset seizure, Gliosis, Myoclonic spasms, Neuronal loss in c... OMIM:614498
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot osteomyelitis, Fasciculations, Axonal degeneration/regeneration, Decreased number of periphe... OMIM:600882
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Myoclonus, Gliosis, Neuronal loss in central nervous system ORPHA:204
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Spinocerebellar Ataxia 23
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign, CNS demyelination... OMIM:610245
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus... OMIM:253310
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dysto... ORPHA:329284
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... ORPHA:545
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Chor... OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext... OMIM:615362
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Ataxia, Hepat... ORPHA:391
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Aplasia/... ORPHA:79262
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Weight loss, Anemia, ... ORPHA:33355
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination OMIM:605253
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign... OMIM:169500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Intrauterine growth retardation, Chorea, Dysmetria, Peripheral hypomye... ORPHA:48431
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Postnatal growth retardation... ORPHA:391417
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Failure to thrive, Seizure, Neurodegeneration, Brain atrophy, Diffuse cerebra... OMIM:214150
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebral cortical atrophy, Involuntary movements, Sensory axonal neuropathy, Cereb... OMIM:271245
Farber Disease
Hepatic fibrosis, Spasticity, Failure to thrive, Hepatosplenomegaly, Myoclonus, Anemia, Intrahepa... ORPHA:333
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Myoc... OMIM:614946
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Tangier Disease
Peripheral demyelination, Facial diplegia, Splenomegaly, Peripheral axonal neuropathy, Hepatomegaly OMIM:205400
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Gliosis, Neuronal loss in centr... OMIM:256600
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Absence of lymph node germinal center,... ORPHA:277
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysme... ORPHA:98762
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Frequent falls, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Cerebral cortical atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Ce... ORPHA:33445
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Neurodegeneration, Motor axonal neuropathy, Rigidity, Dystonia, Oromandibula... OMIM:615643
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Cerebral atrophy, Seizure, Infantile spasms, Gliosis, Bilateral tonic-... ORPHA:79243
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration... OMIM:271225
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Peripheral hypomyelination OMIM:616287
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Peripheral demyelination ORPHA:2932
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,... ORPHA:313772
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Acanthocytosis, Ataxia OMIM:200100
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... OMIM:613672
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Dystonia, Babinski sign, ... ORPHA:521406
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Failure to thrive, Tremor OMIM:619651
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Cerebral cortical atrophy, Spasticity, Spastic paraparesis, Spastic paraplegia, Failure to thrive... OMIM:238970
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased C... OMIM:607271
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Primary Non-Essential Cutis Verticis Gyrata
Gliosis, Seizure ORPHA:357225
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive, Ovarian carcinoma, Anemia, Ataxia, Short stature, Ovarian... OMIM:617883
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye... OMIM:612438
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, Tr... OMIM:620546
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, ... OMIM:610185
Charcot-Marie-Tooth Disease, Type 4B2
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... OMIM:604563
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Per... OMIM:607250
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Cogwheel rigidity, Myoclonus, Tremor, Limb... ORPHA:363710
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Spastic gait, Cerebellar vermis atro... OMIM:270550
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Epilepsy, Progressive Myoclonic 7
Myoclonus, Cerebellar atrophy, Tremor, Ataxia OMIM:616187
Intellectual Developmental Disorder, X-Linked 12
Seizure, Gliosis, Truncal obesity, Increased body mass index, Small for gestational age OMIM:300957
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Anemia, Chromosomal breakage induced by crosslinking agents, Thrombo... OMIM:617243
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Babinski sign, Abn... OMIM:616680
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb... OMIM:605588
Rhabdoid Tumor
Cerebral palsy, Hemiplegia, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia... ORPHA:69077
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness ORPHA:2590
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... ORPHA:251282
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Limb hypertonia, Gliosis, Ataxia, Optic disc pallor OMIM:612936
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Neurodegeneration, Ragged-red muscle ... OMIM:616239
X-Linked Charcot-Marie-Tooth Disease Type 3
Peripheral axonal neuropathy, Tremor, Spastic paraparesis, Demyelinating peripheral neuropathy ORPHA:101077
Adrenoleukodystrophy
Spastic paraplegia, Neurodegeneration, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, ... OMIM:300100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Dysmetria, Tremor, Lower limb spasticity, A... OMIM:617916
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Pelizaeus-Merzbacher Disease
Optic atrophy, Spastic paraplegia, Global brain atrophy, Abnormal CNS myelination, Failure to thr... OMIM:312080
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Weight loss, Gliosis ORPHA:157941
Glutaric Acidemia I
Failure to thrive, Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Hepa... OMIM:231670
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, CNS hypomyelination, Leukodystrophy, Abnormal cerebellum morphology, Intentio... OMIM:610532
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Tremor, Delayed CNS myelination, Ataxia OMIM:300983
Huntington Disease
Degeneration of the striatum, Decreased body mass index, Involuntary movements, Cerebral atrophy,... ORPHA:399
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... ORPHA:397596
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Peripheral ... OMIM:618387
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers OMIM:618184
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Ataxia, Poor hand-eye coordinati... ORPHA:420741
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Cerebral palsy, Generalized dystonia, Dystonia, Spastic ataxia, Paraparesis, A... OMIM:620358
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degeneration, Peripheral axo... OMIM:208920
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Cerebral atrophy, Progressive spastic paraplegia, Obesi... ORPHA:464282
Developmental And Epileptic Encephalopathy 82
Cerebellar vermis hypoplasia, Spastic paraparesis, Cerebral atrophy, Decreased body weight, Short... OMIM:618721
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Le... OMIM:607694
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Arthrogryposis multiplex congenita, Myopathy OMIM:201550
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Spastic paraparesis, Failure to thrive, Leukodystrophy, Sudanophilic leukod... OMIM:260600
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Axonal regeneration, Onion bulb formation OMIM:608323
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Leigh Syndrome, Nuclear
Gliosis, Failure to thrive, Seizure OMIM:256000
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Olivopontocerebellar atrophy, Dysmetria, Tremor, Babinski sign... OMIM:164500
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Aspiration pneumonia ORPHA:141152
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, CNS demyelination, Ab... ORPHA:909
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Seizure OMIM:608033
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
Dystonia 28, Childhood-Onset
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... OMIM:617284
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Seizure, Cerebral atrophy, Febrile seizure (within the age range of 3 months to 6 years), Myoclon... OMIM:619847
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Degeneration of the lateral corticospinal tracts, Babinski sign, Lowe... OMIM:600363
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Gait ataxia,... OMIM:614831
Spinal Arteriovenous Metameric Syndrome
Lymphangioma, Paraparesis ORPHA:53721
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Chiari malformation, Decreased response to growth hormone stimulatio... OMIM:609053
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoc... ORPHA:79263
Leukoencephalopathy With Vanishing White Matter 1
Gliosis, Seizure OMIM:603896
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Cachexia, Abnormal pyramidal sign, Ataxia, Pal... ORPHA:363717
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus OMIM:616921
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Isaacs Syndrome
Weight loss, Fasciculations ORPHA:84142
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Decreased response to growth hormone stimulation test, Upper m... ORPHA:289494
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Overweight, Gliosis, Seizure ORPHA:457240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Frequent falls, Onion bulb formation OMIM:607684
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... ORPHA:363654
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Progressive spasticity, Obesity, Abnormality of extrapyramidal motor f... ORPHA:2822
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... OMIM:213600
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Tremor, Babinski sign, Abnormal CNS myelination ORPHA:477673
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Spinocerebellar Ataxia 25
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Babinski sign, Oculom... OMIM:608703
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cer... ORPHA:98763
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Pancytopenia, Leukocytosis, Cryptorchidism, ... ORPHA:99812
X-Linked Agammaglobulinemia
Recurrent pneumonia, Failure to thrive, Hepatitis, Conjunctivitis, Osteomyelitis, Skin rash, Abno... ORPHA:47
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia ORPHA:67047
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Delayed menarche, Tremor, Diffuse cerebral ... ORPHA:330050
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Cryptorchidism, Weight loss, Clonus, Ataxia, Poikilocy... OMIM:301310
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Degeneration of the lateral cort... ORPHA:444099
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis ORPHA:43
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Cerebellar atrophy, Cerebral atrophy, Brain atrop... OMIM:604377
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Failure to thrive, Increased m... OMIM:617052
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy, Diaphragmatic paralysis ORPHA:99868
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Chromosome breakage, Biliary atresia, Short stature, Growth delay OMIM:615272
Charcot-Marie-Tooth Disease, Type 4B1
Irregular myelin loops, Facial palsy, Myelin outfoldings OMIM:601382
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination, Ataxia OMIM:609033
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Eryth... OMIM:603554
Meige Disease
Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infections, Absence of... ORPHA:90186
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar ve... OMIM:614381
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Short stature, Bradykinesia OMIM:617836
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Myopathy With Extrapyramidal Signs
Optic atrophy, Frequent falls, Cerebellar dysplasia, Chorea, Leukocytosis, Splenomegaly, Tremor, ... OMIM:615673
Wilson Disease
Failure to thrive, Hepatitis, Acute hepatitis, Splenomegaly, Hepatic steatosis, Increased body we... ORPHA:905
Prune1-Related Neurological Syndrome
Optic atrophy, Tongue fasciculations, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... ORPHA:544469
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Abnormal upper motor neuron morphology, Gait ataxia, Corpus callosu... OMIM:601162
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular ... ORPHA:83469
Aicardi-Goutieres Syndrome 9
Spasticity, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Delayed CNS myelination, Weight lo... OMIM:619487
Secondary Syringomyelia
Facial paralysis, Somatic sensory dysfunction, Paresthesia, Fatigable weakness, Syringomyelia, Hy... ORPHA:99857
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Pituitary adenoma, Increased circulating prolactin concentration, Pituit... ORPHA:97289
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Failure to thrive, Decreased response to growth hormone s... OMIM:603467
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Cerebral cortical atrophy, Congenital contracture, Chorea, Gliosis OMIM:277470
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Dysmetria, Parkinsonism, Lower limb spasticity, Ataxia, ... OMIM:613647
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Spastic gait, Abnormal cerebellum mo... OMIM:275900
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Cerebral atrophy, Abnormalit... ORPHA:442835
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... ORPHA:54251
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Abnormal cranial nerve morphology, Myoclonus, Tremor, Cachexia, Ataxia... ORPHA:97229
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... ORPHA:98856
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Gait ataxia, Decreased number of large peripheral myelinated nerve ... ORPHA:90103
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus... OMIM:617435
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Cerebellar hypopla... OMIM:617810
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Tongue fasciculations, Cerebral atrophy, Leukodystrophy, Peripheral axonal ... OMIM:619851
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss, Mediastinal lymphadenopathy, Abnormal proportion... ORPHA:133
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine esterase inhibi... ORPHA:98915
Molybdenum Cofactor Deficiency, Type B
Cerebral atrophy, Peripheral demyelination, Diffuse cerebral atrophy, Opisthotonus, Hypertonia, M... OMIM:252160
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Segmental peripheral demyelination/remyelination, Frequent falls, Onion bulb formation OMIM:601455
Neuropathy, Hereditary Sensory, Type Ie
Ataxia, Osteomyelitis, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl... OMIM:601457
Aicardi-Goutieres Syndrome 7
Tetraparesis, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, ... OMIM:615846
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Chiari type I malformation, Chromosomal breakage induced by crosslin... OMIM:617244
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Optic atrophy, Failure to thrive, Cerebral atrophy, Intrauterine growth retardation, Peri... ORPHA:79282
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Intrauterine growth retardation, Cerebellar... OMIM:300514
Aggressive Systemic Mastocytosis
Pancytopenia, Hepatosplenomegaly, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Dysmetria, ... OMIM:617710
Progressive Supranuclear Palsy
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system, Abnormal synaptic tr... ORPHA:683
Icf Syndrome
Abnormality of chromosome stability, Lymphopenia, Anemia, Short stature, Abnormality of neutrophi... ORPHA:2268
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetri... OMIM:210000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Foot osteomyelitis, Hand tremor, Osteomyelitis, Chronic axonal neuropathy,... OMIM:162400
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... OMIM:620158
Bloom Syndrome
Decreased circulating IgG level, Chromosome breakage, Bronchiectasis, Abnormality of chromosome s... OMIM:210900
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Hemiparesis, Paralysis, Jaundice, Paraparesis, Thr... ORPHA:319251
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Spasticity, Spastic paraparesis, Intrauterine growth retardation, Proportio... ORPHA:3208
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Abnormal cere... ORPHA:137898
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Seizure, Epileptic spasm, Diffuse cerebral atrophy, Generalized tonic seizure... OMIM:617193
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Tremor, Rigidity, D... OMIM:300894
Fragile X Syndrome
Cerebral cortical atrophy, Otitis media, Sinusitis, Folate-dependent fragile site at Xq28, Macroo... ORPHA:908
Mulibrey Nanism
Short stature, Hepatomegaly, Intrauterine growth retardation, Cachexia ORPHA:2576
Molybdenum Cofactor Deficiency, Type A
Cerebral atrophy, Peripheral demyelination, Opisthotonus, Myoclonic spasms, Axonal loss, Spastic ... OMIM:252150
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Tremor, Ataxia OMIM:619099
Poliomyelitis
Myelitis, Fasciculations, Infectious encephalitis, Hyperkinetic movements, Paralysis, Paraparesis... ORPHA:2912
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Pseudobu... ORPHA:98889
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Spasticity, Failure to thrive, Chorea, Abnormality of Krebs cycle metabolism, Gait... ORPHA:255210
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Progressive spastic paraplegia, Decreased number of peripheral myelinated nerve fi... ORPHA:320406
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Spasticity, Spastic paraparesis, Hand tremor, Motor axonal neuropathy, Rigidity, D... ORPHA:289560
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Paraparesis,... ORPHA:449427
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Hemiparesis, Dystonia, Cerebral cortical hemiatrophy, Parkinsonism, Bradykinesia, Brain a... ORPHA:306669
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Gro... ORPHA:70594
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Skin rash, Weight loss, Generalized lymphade... ORPHA:33276
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Intrauterine growth retardation, Decreased circulating IgA level, Decreased ci... OMIM:617744
Anaplastic Thyroid Carcinoma
Goiter, Weight loss, Lymphadenopathy, Vocal cord paralysis, Nodular goiter ORPHA:142
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Ataxia OMIM:613662
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Facial diplegia, Axonal degeneration/regeneration, Tremor, Peripheral axonal neuropathy, Limb tre... OMIM:218000
Lissencephaly, X-Linked, 2
Gliosis, Seizure OMIM:300215
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Dysmetria, Ataxia OMIM:617917
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Smal... OMIM:261640
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Failure to thrive, Tremor, Cerebellar hypoplasia, Delayed CNS myelination, Hypertonia, Ataxia OMIM:619556
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Chronic axonal neuropathy, Poor gross motor coordination, Demyelinating perip... ORPHA:99948
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Central nervous system degeneration, Global brain atrophy, Amyloid... ORPHA:282166
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Charcot-Marie-Tooth Disease, Type 4B3
Brain atrophy, Onion bulb formation, Myelin outfoldings OMIM:615284
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia OMIM:619028
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Gait ataxia, Dysmetria, Rigidity, Tremor OMIM:618090
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Gliosis, Seizure ORPHA:3240
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Neurodegeneration, Cerebellar atrophy, Seizure, Atrophy/Degeneration affecting the brainstem OMIM:612319
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo... OMIM:617145
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Cachexia, Aplasia/Hypoplasia of the c... ORPHA:85278
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormal mesentery m... ORPHA:93941
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Congenital Disorder Of Glycosylation, Type Ie