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.

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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

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
Tremor, Abnormality of coordination, Cerebral atrophy, Ataxia, Brain atrophy, Abnormal myelinatio... ORPHA:442835
Autosomal Dominant Non-Syndromic Intellectual Disability
Chorea, Eyelid myoclonus, Cerebral atrophy, Stereotypy, Short stature, Spasticity ORPHA:178469
Mental Retardation, Autosomal Dominant 38
OMIM:616393
Developmental And Epileptic Encephalopathy 33
OMIM:616409

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 pain sensation, Decreased motor nerve conduction velocity, Impaired vibratory sensation,... DECIPHER:29
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Cerebral atrophy, Neurodegener... OMIM:617672
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:105550
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Spinal muscular atrophy, Degeneration of anterior horn cells, Ataxia, Cong... OMIM:607596
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal amyotrophy OMIM:271150
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... OMIM:167320
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Optic Atrophy With Demyelinating Disease Of Cns
Hemiparesis, Ataxia, Optic neuritis, Optic atrophy, Peripheral demyelination, CNS demyelination OMIM:165200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,... OMIM:616437
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy OMIM:253550
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal lower motor neuron morphology, Progressive cer... ORPHA:95434
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Proximal amyotrophy, Degeneration of anterior horn cells, Distal sensory impairment, Axo... OMIM:604484
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... OMIM:180800
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... ORPHA:65684
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Null Syndrome
Peripheral demyelination, Progressive spastic quadriplegia, Demyelinating peripheral neuropathy, ... ORPHA:280234
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Paraparesis, Decr... OMIM:302800
Krabbe Disease
Autoimmune thrombocytopenia, Peripheral demyelination, Hypertonia, Neurodegeneration, CNS demyeli... OMIM:245200
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy OMIM:253400
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Ataxia, Amyotrophic lateral sclerosis OMIM:615911
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph no... OMIM:613179
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Cerebral atrophy, Abnormal pyrami... ORPHA:397946
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demyelinating sensory ... ORPHA:208981
Immunodeficiency 54
Chromosome breakage, Postnatal growth retardation, Intrauterine growth retardation, Adrenocortico... OMIM:609981
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Degeneration of... OMIM:301830
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Lymph node hypoplasia, Panhypogammaglobulinemia, Pneumonia... OMIM:602450
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Peripheral axonal neu... ORPHA:497764
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Ataxia-Telangiectasia
Tremor, Abnormality of chromosome stability, Abnormal testis morphology, Decreased circulating an... ORPHA:100
Spastic Paraplegia With Neuropathy And Poikiloderma
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... OMIM:182815
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Cerebellar atrophy, Torticollis OMIM:618369
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Abnormality of extrapyramidal motor fu... ORPHA:275872
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, H... OMIM:609260
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Basal lamina onion bulb formation,... OMIM:614895
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Peripheral hypomyeli... OMIM:604168
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Leukodystrophy, Decreased proportion of memory B cells, Paraparesis, Panhypoga... ORPHA:79124
Neuromyelitis Optica Spectrum Disorder
Myelitis, Optic neuritis, Peripheral demyelination, Paraplegia, Neuronal loss in central nervous ... ORPHA:71211
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Paresthesia, Orthostatic hypotension, Abnormal upper motor neuron morphology,... OMIM:263570
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Decreased nerve conduction velocity, Spastic tetraparesis, Babinski sign, Peripheral... OMIM:249900
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Optic atrophy, Spastic paraparesis, Babinski sign OMIM:613672
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Brain atrophy, Cranial nerve compres... ORPHA:52430
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyrami... OMIM:614561
Vitamin B12-Unresponsive Methylmalonic Acidemia
Paraparesis, Tetraparesis, Ataxia, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatit... ORPHA:27
Mast Syndrome
Spastic paraplegia, Apraxia, Spastic paraparesis, Abnormal cerebellum morphology, Babinski sign OMIM:248900
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Abnormal nerve conduction velocity, Paraparesis, Ataxia, Optic atrophy ORPHA:99014
Spastic Paraplegia 55, Autosomal Recessive
Spastic paraplegia, Onion bulb formation, Peripheral axonal neuropathy, Babinski sign, Clonus, Op... OMIM:615035
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity OMIM:617018
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Axonal loss, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babins... OMIM:221770
Huntington Disease
Gait ataxia, Gliosis, Chorea, Cerebellar atrophy, Neuronal loss in central nervous system OMIM:143100
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:608627
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Spinal muscular atrophy, Degeneration of anterior horn cells, Progressive distal mu... OMIM:159950
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Basal lamina onion ... OMIM:601596
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity OMIM:611105
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Fatigable weakness, Type 2 muscle fiber atrophy, Prolonged miniature endpl... OMIM:603034
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... ORPHA:99
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Huntington Disease-Like 2
Chorea, Weight loss, Cerebral cortical atrophy, Parkinsonism, Involuntary movements, Caudate atrophy ORPHA:98934
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Generalized hypotonia due to defect at the neuromuscular junc... OMIM:254210
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Babinski sign OMIM:300660
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Mitochondrial Complex I Deficiency, Nuclear Type 15
Spastic tetraplegia, Failure to thrive, Peripheral demyelination, Intrauterine growth retardation... OMIM:618237
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Clumsiness, Progressive spastic paraparesis, Tetraparesis, Ataxia, Abn... ORPHA:206448
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Tetraparesis, Decreased number of peripheral myelinated n... ORPHA:2386
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, S... ORPHA:100024
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability, Postnatal growth retardation, Intrauterine gro... OMIM:600546
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Paral... OMIM:605285
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Amyotrophic lateral scleros... ORPHA:600
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Paraparesis, Spastic paraplegia ORPHA:101005
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Orthostatic hypotension, Peroneal muscle atrophy, Degeneration of anterior horn cells, P... OMIM:118301
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Frequent falls OMIM:618279
Spinocerebellar Ataxia Type 25
Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Abnormal cerebellar corte... ORPHA:101111
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Progressive Non-Fluent Aphasia
Astrocytosis, Temporal cortical atrophy, Senile plaques, Abnormal lower motor neuron morphology, ... ORPHA:100070
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, Acute myeloid leukemia, Failure to thrive, T... OMIM:605724
Machado-Joseph Disease Type 3
Neurogenic bladder, Spinocerebellar tract degeneration, Progressive gait ataxia, Abnormal lower m... ORPHA:276244
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability, Spasticity OMIM:310465
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Spasticity of facial muscles OMIM:606353
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... OMIM:608971
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 25
Cerebellar atrophy, Babinski sign, Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Short stature, Spastic paraparesis, Ataxia ORPHA:2815
Autosomal Recessive Spastic Paraplegia Type 43
Spastic paraparesis, Poor fine motor coordination, Spastic gait, Babinski sign, Spasticity ORPHA:320370
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Nijmegen Breakage Syndrome-Like Disorder
Growth delay, Ataxia, Short stature, Chromosomal breakage induced by ionizing radiation, Spasticity OMIM:613078
Spastic Paraplegia, Epilepsy, And Mental Retardation
Spastic paraplegia, Spastic paraparesis OMIM:182610
Carcinoma Of Esophagus
Weight loss, Lymphadenopathy, Obesity ORPHA:70482
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Choreoathetosis, Spastic paraparesis, ... OMIM:608804
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spastic tetraparesis, Cerebellar atrophy, Peripheral axonal neuropathy, Progressi... ORPHA:496756
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Transcobalamin Deficiency
Abnormality of chromosome stability, Decreased circulating antibody level, Lymphopenia, Neutropen... ORPHA:859
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Ataxia, Failur... OMIM:220111
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents, Cerebral atrophy, Decreased body weight, Cer... OMIM:619060
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Cerebral atrophy, Pau... OMIM:611890
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Cerebellar atrophy, Splenomegaly, Fr... OMIM:616719
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Motor conduction block, Abnormal nerve conduction velocity, Decreased n... ORPHA:2932
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Short stature, Atrophy... OMIM:617862
Spinocerebellar Ataxia 17
Positive Romberg sign, Gait ataxia, Gliosis, Chorea, Limb ataxia, Ataxia, Cerebellar atrophy, Dys... OMIM:607136
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Moderately short stature, Tetraplegia/tetraparesis, Progressive spastic paraparesis, Ankle clonus... ORPHA:506353
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619133
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Hodgkin Lymphoma
Weight loss, Ataxia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Fatigable weakness of respiratory muscles, Hip flexor weakness, Wea... ORPHA:98913
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Neurodegeneration, Ataxia, Cerebellar atrophy, Premature ovarian insufficiency, ... OMIM:615889
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Corpus callosum atrophy, Spastic paraparesis, Global brain atrophy, Abnormal pyra... OMIM:260600
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Gait ataxia, Tremor, Spasticity ORPHA:217012
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system OMIM:614959
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Multiple Sulfatase Deficiency
Cerebral atrophy, Ataxia, Hepatomegaly, Cerebellar atrophy, Splenomegaly, Short stature, Peripher... OMIM:272200
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents, Type 2 muscle fiber atrophy OMIM:601462
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents, Bone marrow... OMIM:609054
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Spastic paraparesis, Abnorm... OMIM:312920
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Weight loss, Neuroendo... ORPHA:100083
Gaucher Disease, Type Iii
Spastic paraparesis, Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, Hepatomegaly,... OMIM:231000
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Knee clonus, Ataxia, Decrea... OMIM:604360
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... OMIM:611228
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... OMIM:606693
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Galloway-Mowat Syndrome 5
Spasticity, Ataxia, Peripheral demyelination, Brain atrophy OMIM:617731
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Decreased nerve conduction velocity OMIM:302802
Peroxisome Biogenesis Disorder 8B
Leukodystrophy, Corpus callosum atrophy, Spastic paraparesis, Ataxia, Cerebellar vermis atrophy, ... OMIM:614877
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Gliosis, Limb ataxia, Ataxia, Dysmetria OMIM:213200
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... OMIM:607483
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Neurodegeneration, Spastic tetraparesis, Ataxia, Ankle c... OMIM:612319
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, CNS demyelination... OMIM:610245
Galactose Epimerase Deficiency
Growth delay, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy, Decreased miniature endplate pot... OMIM:608930
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Pulmonary Blastoma
Weight loss, Recurrent pneumonia ORPHA:64741
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Spinal muscular atrophy, Axonal degeneration, Diaphragmatic eventration,... OMIM:604320
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Postnatal growth retardation, Periphe... OMIM:616733
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Gliosis, Distal sensory impairment, Neuronal loss in central nervous system OMIM:604218
Spinocerebellar Ataxia 37
Frequent falls, Cerebellar atrophy, Tremor, Ataxia OMIM:615945
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Gait ataxia, Peripheral demyelination OMIM:258650
Juvenile Huntington Disease
Gait ataxia, Chorea, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Cerebellar... ORPHA:248111
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Primary Angiitis Of The Central Nervous System
Paraparesis, Tetraparesis, Hemiparesis, Paralysis, Ataxia, Pseudopapilledema, Parkinsonism ORPHA:140989
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Recurrent otitis... ORPHA:277
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Cerebral atrophy, Neuro... OMIM:615157
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Cerebellar atroph... OMIM:607458
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Motor conduction block, Demyelinating peripheral neuro... ORPHA:99953
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Gliosis ORPHA:99802
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Dysmetria, Intenti... ORPHA:423275
Machado-Joseph Disease
Truncal ataxia, Impaired vibratory sensation, Spinocerebellar tract degeneration, Gliosis, Limb a... OMIM:109150
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Neur... OMIM:300894
Fanconi Anemia, Complementation Group Q
Biliary atresia, Growth delay, Short stature, Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... OMIM:607706
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Knee clonus, Ankle clonus, Abnorm... OMIM:275900
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fasciculatio... OMIM:607317
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Mental Retardation, Autosomal Dominant 56
Paraparesis, Ataxia, Spasticity OMIM:617854
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Gait ataxia, Tremor ORPHA:423296
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Glutathionuria
Tremor OMIM:231950
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:604563
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Dysmetria, Intention tremor OMIM:616053
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cerebral atrophy, Cerebral cortica... ORPHA:33445
Autosomal Recessive Spastic Paraplegia Type 35
Dysdiadochokinesis, Spastic paraplegia, Corpus callosum atrophy, Pontocerebellar atrophy, Spastic... ORPHA:171629
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Ataxia, Frontotemporal cerebral atrophy, Postnatal ... ORPHA:391417
Pfapa Syndrome
Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:42642
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Bab... OMIM:615768
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Tremor, Choreoathetosis, Ataxia, Cerebellar atrophy, Cerebral hypomyelination, Sh... OMIM:612438
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Abnormal cerebellum morpholo... OMIM:270500
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Cerebral atrophy, Abnormal pyramid... ORPHA:98762
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmetria, Babin... OMIM:618093
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Decreased sensory nerve co... OMIM:270550
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Ataxia, Hepatomegaly, Myoclonus,... OMIM:615924
Tangier Disease
Hepatomegaly, Splenomegaly, Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia OMIM:205400
Metachromatic Leukodystrophy
Chorea, Decreased nerve conduction velocity, Cholecystitis, Ataxia, Gallbladder dysfunction, Spas... OMIM:250100
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Chorea, Ataxia, Amyotrophic lateral sclerosis, Dis... ORPHA:300605
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Flexion contracture, Abnormal autonomic nervous system physiology, Optic atrophy, Neuron... OMIM:614498
Follicular Lymphoma
Abnormality of the peritoneum, Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decr... OMIM:609311
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Pauci... OMIM:253310
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Cerebellar atrophy, Dy... OMIM:607694
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Cer... ORPHA:101110
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination, Acanthocytosis OMIM:200100
Huntington Disease-Like 2
Chorea, Action tremor, Weight loss, Bradykinesia, Rigidity OMIM:606438
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Fatiguable weakness of proximal limb muscles, Muscle fiber tubular ... ORPHA:2593
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Growth delay, Colitis, B lymphocytopenia, Sp... OMIM:619164
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Leukodystrophy, Corpus callosum atrophy, Symmetric peripheral demyelinati... OMIM:169500
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Classic Hodgkin Lymphoma
Skin rash, Ataxia, Weight loss, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphade... ORPHA:391
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy, Decreased nerve conduct... OMIM:256600
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diff... OMIM:614946
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Pontocerebellar Hypoplasia, Type 4
Gliosis, Congenital contracture OMIM:225753
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Farber Disease
Paraparesis, Intrahepatic cholestasis with episodic jaundice, Brain atrophy, Thrombocytopenia, He... ORPHA:333
Rhabdoid Tumor
Hemiplegia, Weight loss, Neoplasm of the liver, Thrombocytopenia, Anemia, Cerebral palsy, Lymphad... ORPHA:69077
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Foot osteomyelitis, Decreas... OMIM:600882
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Cerebellar atrophy, Parkinsonism, Op... ORPHA:329284
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... OMIM:616291
Behr Syndrome
Tremor, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spasticity, Optic atrophy OMIM:210000
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Truncal ataxia, Diffuse cerebellar atrophy, Limb d... ORPHA:363710
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arthritis, Enterovi... OMIM:300755
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Tremor, Spastic paraparesis, Demyelinating peripheral ... ORPHA:101077
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... OMIM:618170
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Spastic paraparesis, Peripheral demyelination, Peripheral hypomyelination, Demyel... OMIM:609136
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Thrombocytopenia, He... OMIM:603554
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Decreased nerve conduction velocit... ORPHA:90103
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Spastic paraparesis, Cerebellar hypoplasia, Demyelinating peripheral neuropat... ORPHA:313772
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Neurodegeneration, Cerebellar atrophy, Facial palsy, Skeletal muscle atrophy, Myopathy, ... OMIM:616239
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Tremor, Hemolytic anemia, Rigidity OMIM:615010
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Cerebral atrophy, Ataxia, Neuronal loss in central nervous system ORPHA:204
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Neurodegeneration, Bradykinesia, Spastic tetraplegia, Motor axonal neuropath... OMIM:615643
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Flexion contracture, Degeneration of anterior horn cells, Acute infantile ... OMIM:271225
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Ataxia, Cerebral cortical atrophy, Optic atrophy, Spasticity OMIM:300983
Bloom Syndrome
Cryptorchidism, Abnormality of chromosome stability, Bronchiectasis, Postnatal growth retardation... OMIM:210900
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Cerebrooculofacioskeletal Syndrome 1
Arthrogryposis multiplex congenita, Gliosis, Camptodactyly, Knee flexion contracture, Joint contr... OMIM:214150
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Short stature, Optic atrophy, Obesity OMIM:614947
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:610100
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Limb ataxia, Slurred speech, Neurodegeneratio... OMIM:300100
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Pancytopenia, ... ORPHA:507
Ane Syndrome
Generalized amyotrophy, Motor neuron atrophy, Multiple joint contractures ORPHA:157954
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Gliosis, Neuronal loss in central nervous system OMIM:221820
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive OMIM:618951
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Spastic paraparesis, Progressive gait ataxia, Lower limb hypertonia, Progressive cerebellar ataxi... ORPHA:254343
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal pyramidal sign, Resting tremor, Ataxia, Bradykinesia, C... OMIM:617225
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Truncal ataxia, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, I... ORPHA:314978
Developmental And Epileptic Encephalopathy 82
Spastic paraparesis, Cerebellar vermis hypoplasia, Cerebral atrophy, Decreased body weight, Spast... OMIM:618721
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Abnormal cerebel... OMIM:610532
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination, Choreoathetosis, Spastic d... OMIM:231670
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Epilepsy, Progressive Myoclonic, 1B
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria OMIM:612437
Tuberculosis
Weight loss ORPHA:3389
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Riddle Syndrome
Chronic sinusitis, Recurrent pneumonia, Clumsiness, Recurrent sinusitis, Generalized lymphadenopa... ORPHA:420741
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Limb ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:208920
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Tremor, Lower limb spastici... OMIM:600363
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... OMIM:619279
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Hypermanganesemia With Dystonia 2
Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinski ... OMIM:617013
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis OMIM:612936
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, We... ORPHA:157941
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents, Neutropenia, Decreased body weight, Optic ne... OMIM:609053
Fanconi Anemia, Complementation Group S
Ovarian neoplasm, Short stature, Failure to thrive, Anemia, Chromosome breakage OMIM:617883
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinski ... ORPHA:521406
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Frontal cortical atrophy, Abnormality of extrapyramidal motor function, Paraparesis, ... ORPHA:2822
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Hepatomegaly, Impaired T cell function, Failure to thrive, Splenomegaly, Short st... OMIM:201100
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Cryptorchidism, Tremor, Delayed myelination OMIM:617557
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Panhyp... OMIM:601457
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria OMIM:618387
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Global brain atrophy, Cerebellar atrophy, Optic atrophy OMIM:236792
Spastic Paraplegia 75, Autosomal Recessive
Corpus callosum atrophy, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Babinski sign, Optic... OMIM:616680
Microcephaly 10, Primary, Autosomal Recessive
Arthrogryposis multiplex congenita, Cerebellar atrophy, Cerebral atrophy, Gliosis OMIM:615095
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Oculomotor apraxia, Ataxia, Decreased circulating IgA level,... OMIM:208910
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Atrophy of the spinal cord, Weakness due to upper motor neuron dysf... ORPHA:35689
Cerebrotendinous Xanthomatosis
Global brain atrophy, Palatal myoclonus, Abnormality of extrapyramidal motor function, Optic neur... ORPHA:909
Huntington Disease
Decreased body mass index, Clumsiness, Rigidity, Chorea, Cerebral atrophy, Poor fine motor coordi... ORPHA:399
Spinal Arteriovenous Metameric Syndrome
Lymphangioma, Paraparesis ORPHA:53721
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Weight loss, Thrombocytopenia, H... ORPHA:3226
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebellar cyst, Ataxia, D... OMIM:614831
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss, Abnormality of the peritoneum, Lymphadenopathy ORPHA:26790
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Cirrhosis, Microvesicular hepa... OMIM:256810
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Myocl... ORPHA:98763
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Lower limb spasticity, Spastic gait, Babinski s... ORPHA:444099
Lig4 Syndrome
Cryptorchidism, Abnormality of chromosome stability, Leukocytosis, Growth delay, Pancytopenia, He... ORPHA:99812
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology ORPHA:2590
Isaac Syndrome
Fasciculations, Weight loss ORPHA:84142
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Global brain atrophy, Bradykinesia, Frontotemporal cerebral atrophy,... OMIM:612953
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Abnormal pyramidal sign, Decreased number of peripheral myelinated nerve fibe... OMIM:256850
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Cerebral atrophy, Absent pubertal growth spurt, Ataxia, Obesity, Lower limb spasticity, Short sta... ORPHA:464282
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Segmental peripheral demyelination/remyelination, Decreased ne... OMIM:601455
Felty Syndrome
Recurrent pneumonia, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Neutrope... ORPHA:47612
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center, Recurrent skin infections, Recurren... ORPHA:90186
Wilson Disease
Acute hepatitis, Cirrhosis, Clumsiness, Hepatic steatosis, Weight loss, Thrombocytopenia, Jaundic... ORPHA:905
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Gliosis, Abnormal astrocyte morphology ORPHA:168486
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Weight loss, Thrombocytopenia,... ORPHA:47
Thymic Carcinoma
Mediastinal lymphadenopathy, Diaphragmatic paralysis, Neoplasm of the thymus, Weight loss ORPHA:99868
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Short stature, Decreased nerve conduction velocity ORPHA:1368
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Spastic paraparesis, Poor coordination, Abnormal pyramidal sign, Hepatomegaly, C... OMIM:238970
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Progressive Supranuclear Palsy
Abnormal synaptic transmission, Gliosis, Cerebral cortical atrophy, Neuronal loss in central nerv... ORPHA:683
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Babinski sign, Failure to thrive, Abnormal CNS myelination ORPHA:477673
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, Brain atrophy... ORPHA:79263
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction velocity, O... OMIM:218000
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Choreoathetosis, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Small for gestational ag... OMIM:261640
Pelizaeus-Merzbacher Disease
Tremor, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ataxia, Cereb... OMIM:312080
Molybdenum Cofactor Deficiency, Complementation Group B
Hypertonia, Axonal loss, Cerebral atrophy, Growth delay, Opisthotonus, Spastic tetraplegia, Perip... OMIM:252160
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Weight loss, Bradykinesia, Cerebellar ... OMIM:137440
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia... ORPHA:289494
Poliomyelitis
Absent tonsils, Myelitis, Abnormal motor nerve conduction velocity, Paraparesis, Hyperkinetic mov... ORPHA:2912
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss, Liver abscess, Abnormality of the pancreas, Anemia, Neut... ORPHA:54251
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysmetria, Optic atrophy... OMIM:617810
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Chronic otitis media, Macroorchidism, Cerebral cortical at... ORPHA:908
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Hemiparesis, Paralysis, Progressive spastic paraparesis ORPHA:43
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Generalized amyotrophy, Lower limb muscle weakness, Impai... OMIM:601162
Riboflavin Transporter Deficiency
Tremor, Abnormal cranial nerve morphology, Ataxia, Cerebral cortical atrophy, Facial palsy, Cache... ORPHA:97229
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging ORPHA:3417
Fanconi Anemia, Complementation Group L
Abnormality of chromosome stability, Anemia, Intrauterine growth retardation, Bone marrow hypocel... OMIM:614083
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Cerebellar atrophy, Tremor, Ataxia OMIM:617917
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Cerebe... OMIM:617435
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Weight loss, Hepatomegaly, Cachexia, Anemia, Tes... ORPHA:83469
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Cerebellar hypoplasia, Dysmetria, Truncal ataxia OMIM:616127
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Ataxia, Peripheral demyelination OMIM:609033
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Cerebellar atrophy, Myoclonus, Int... OMIM:254900
Fanconi Anemia, Complementation Group F
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Patent ductus arteriosus, Pn... OMIM:603467
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Cerebral atrophy, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Gliosis, Cerebral atrophy, Flexion contracture, Ataxia, Cerebellar gliosis ORPHA:79243
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Synovitis, W... ORPHA:77297
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Weight loss ORPHA:2023
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Growth delay, Cerebral atrophy, Atrophy of the spinal cord, Neutropenia, Po... ORPHA:79282
Spinocerebellar Ataxia, X-Linked 3
Gliosis, Cerebellar atrophy, Dysmetria, Optic atrophy, Neuronal loss in central nervous system, O... OMIM:301790
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm,... ORPHA:97289
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Global brain atrophy, Senile plaques, Spastic hemiparesis, Slurr... ORPHA:282166
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, Short stature, Rigidity OMIM:617836
Glut1 Deficiency Syndrome 2
Tremor, Reticulocytosis, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops OMIM:601382
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypertonia, Cerebral atrophy, Poor fine motor... ORPHA:137898
Myopathy With Extrapyramidal Signs
Tremor, Abnormality of extrapyramidal motor function, Chorea, Ataxia, Peripheral axonal neuropath... OMIM:615673
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Mulibrey Nanism
Hepatomegaly, Cachexia, Short stature, Intrauterine growth retardation ORPHA:2576
Igg4-Related Pachymeningitis
Lymphadenitis, Paraparesis, Increased circulating IgG4 level, Pancreatitis, Sinusitis, Nephritis,... ORPHA:449427
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Cerebellar atrophy, Myoclonus, Dysmetria OMIM:619028
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Scapular winging, Abnormal synaptic transmission at the neuromuscular junct... ORPHA:98915
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Motor Neuropathy, Peripheral, With Dysautonomia
Decreased nerve conduction velocity, Peripheral demyelination OMIM:252320
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Delayed CNS myelination, Growth delay, Cerebellar hypoplasia... OMIM:300514
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Cerebellar a... OMIM:614487
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Cerebral atrophy, Spastic tetraparesis, Growth delay, Opisthotonus, Spastic tetraple... OMIM:252150
Kaposi Sarcoma
Skin rash, Generalized lymphadenopathy, Weight loss, Abnormality of the spleen, Abnormality of th... ORPHA:33276
Leigh Syndrome
Optic atrophy, Gliosis, Ataxia OMIM:256000
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Cerebral atrophy, Ataxia, Brain atrophy, Abnormal myelinatio... ORPHA:442835
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait ataxia, Truncal ataxia, Cerebral cortical atrophy, Cer... ORPHA:85278
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Onion bulb formation, Brain atrophy OMIM:615284
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Pontocerebellar atrophy, Patent ductus arteriosus, Ataxia, Hepatomegaly, Failure to thriv... OMIM:608799
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gliosis, Chorea, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:618321
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Diaphragmatic paralysis, Atopic dermatitis, Abnormal motor nerve conduction velocity, Hyp... ORPHA:466768
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Myoclonus OMIM:261630
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Abnormality of the spleen, Cachexia, Abnormal lower motor ne... ORPHA:93941
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Maculopapular e... ORPHA:98850
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Tremor, Rigidity, Dysmetria OMIM:618090
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Bronchiectasis, Abnormal eosinophil morphology, Weight loss ORPHA:1164
Arnold-Chiari Malformation Type Ii
Paraparesis, Pneumonia, Ataxia, Opisthotonus, Abnormality of the medulla oblongata, Paraplegia, S... ORPHA:1136
Xeroderma Pigmentosum, Complementation Group G
Tremor, Growth delay, Ataxia, Spasticity OMIM:278780
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Oromotor apraxia, Paraparesis, Cerebellar vermis hypoplasia, Cerebellar d... ORPHA:98889
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy OMIM:616668
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Aspiration pneumonia, Abnormal peripheral actio... ORPHA:90117
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Leukoencephalopathy With Vanishing White Matter
Optic atrophy, Gliosis OMIM:603896
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Lymphocytic interstitia... ORPHA:133
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Oculomotor apraxia... OMIM:617145
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Frequent falls, Decreased nerve conduction v... ORPHA:206443
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss, Primary hyperparathyroidism, Abnormal liver parenchyma morphology,... ORPHA:1332
Jaberi-Elahi Syndrome
Tremor, Gait ataxia, Cerebellar atrophy, Dysmetria, Failure to thrive, Optic atrophy, Choreoathet... OMIM:617988
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Gait ataxia, Gliosis, Corpus callosum atrophy, Limb ataxia, Spinocerebellar tract d... OMIM:248500
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spastic paraparesis, Hand tremor, Bradykinesia, Parkinsonism, Babinski sign, Motor axonal neuropa... ORPHA:289560
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Abnormality of extrapyramidal motor function, Decreased number of peripheral myelinated nerve fib... ORPHA:320406
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Abnormal sensory nerve conduction velocity ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, Decreased number of peri... OMIM:615490
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Paraplegia, Weight loss, Vocal cord paresis ORPHA:98897
Anaplastic Thyroid Carcinoma
Goiter, Weight loss, Vocal cord paralysis, Nodular goiter, Lymphadenopathy ORPHA:142
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cirrhosis, Decreased sensory nerve conduction velocity... ORPHA:298
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Tremor, Hypertonia, Cerebral cortical atrop... ORPHA:1192
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Decreased body weight, Brain atrophy, Short stature OMIM:278760
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myoclonus ORPHA:139485
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Arthrogryposis multiplex congenita, Gliosis, Ataxia, Cerebellar atrophy, Diffuse cerebral atrophy... OMIM:617193
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Partial absence of specific an... OMIM:618108
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
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