banner
Genes Phenotypes Help, News, Blog

Gene: Eef1a2 MGI:1096317

Log in to follow

Gene Summary

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

Order Alleles

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.

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View 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
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Opti... ORPHA:442835
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Intellectual Developmental Disorder, Autosomal Dominant 38
Cerebral atrophy, Infantile spasms, Generalized tonic seizure 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 temperature sen... DECIPHER:29
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Soma... OMIM:612577
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... OMIM:607641
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles OMIM:614373
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Ce... OMIM:617672
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Ataxia, Limb tremor, Brain atrophy, S... OMIM:614877
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proximal amyotrophy OMIM:608030
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Distal am... OMIM:253400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... OMIM:105550
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Developmental And Epileptic Encephalopathy 14
Focal autonomic seizure, Focal motor seizure, Status epilepticus, Gliosis, Neuronal loss in centr... OMIM:614959
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Skeletal muscle atrophy OMIM:617892
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Lim... ORPHA:95434
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C... OMIM:616437
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness ... ORPHA:803
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Dege... OMIM:105400
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv... ORPHA:65684
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... OMIM:180800
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Distal sensory impairment, Degeneration of anterior horn cells, Proximal amy... OMIM:604484
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Cerebella... OMIM:302800
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ... ORPHA:397946
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Seizure, Gliosis, Myoclonus, Neuronal loss in central nervous system OMIM:604218
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Krabbe Disease
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Optic atrophy, Hypertonia, Neurodegenerati... OMIM:245200
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:602099
Huntington Disease
Cerebellar atrophy, Seizure, Neuronal loss in central nervous system, Gliosis OMIM:143100
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General... ORPHA:353327
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Sinusitis, Pure red cell aplasia, Autoimm... OMIM:613179
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Immunodeficiency 54
Chromosome breakage, Failure to thrive, Hepatomegaly, Short stature, Postnatal growth retardation... OMIM:609981
Null Syndrome
Ataxia, Abnormal cerebellum morphology, Optic atrophy, CNS hypomyelination, Progressive spastic q... ORPHA:280234
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Corpus callosum atrophy, Seizure, Gliosis, Global brain atrophy OMIM:236792
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Fatigable weakness of skeletal muscles, Fatty replacemen... ORPHA:1320
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... ORPHA:412066
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Limb ataxia, Degeneration of anterior horn cells, Congenital con... OMIM:607596
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Subacute Inflammatory Demyelinating Polyneuropathy
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Leukocytosis, Choreoa... ORPHA:206594
Ataxia-Telangiectasia
Abnormality of chromosome stability, Failure to thrive, Short stature, Ataxia, Abnormal testis mo... ORPHA:100
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... OMIM:301830
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Neurogenic bladder, Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy OMIM:615911
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystr... OMIM:614561
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy, Distal amyotrophy, N... OMIM:608627
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Huntington Disease-Like 2
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Dystonia, Cerebral cor... ORPHA:98934
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Optic neuritis, Neuronal loss in central nervous system, Peripheral demyelination, My... ORPHA:71211
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Babinski sign, Hand tremor, Frequent falls, Onion bulb formation, Peripheral demyelination OMIM:618279
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Hyp... OMIM:609260
Diaminopentanuria
Seizure, Neurodegeneration OMIM:222350
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Decreased testicular size, Short stature, Ataxia, Chorea, Axonal ... OMIM:604168
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features... OMIM:615400
Hemimegalencephaly
Epileptic spasm, Focal motor seizure, Focal tonic seizure, Seizure, Status epilepticus, Myoclonus... ORPHA:99802
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Spastic Paraparesis And Deafness
Tremor, Short stature, Spastic paraparesis OMIM:312910
Developmental And Epileptic Encephalopathy 71
Seizure, Gliosis OMIM:618328
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... ORPHA:52430
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Paraparesis, Optic atrophy, Anemia, Leukopenia, Choreoat... ORPHA:27
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M... OMIM:605809
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Prolonged miniature endplate currents, Type 2 muscle fiber atrophy, Fatiga... OMIM:603034
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Neurogenic bladder, Distal sensory impairment, Paresthesia, Abnormal upp... OMIM:263570
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto... OMIM:617854
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Corpus callosum atrophy, Seizure, Gliosis, Neuronal loss in central nervous system, Global brain ... OMIM:221820
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... OMIM:615035
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Abnormal cerebellar ... ORPHA:101111
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... OMIM:215470
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp... OMIM:254210
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Hype... OMIM:601098
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... ORPHA:2386
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Modera... ORPHA:506353
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Abnormality of chromosome stability, Pancytopenia, Intrauterine gro... OMIM:600546
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Gait ataxia, CNS demyelination, Peripheral demyelination OMIM:249900
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Myoclonus, Apraxia, Abnormal upper... OMIM:221770
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... OMIM:607483
Immunodeficiency 83, Susceptibility To Viral Infections
Seizure, Gliosis OMIM:613002
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Skeletal muscle atrophy, Distal lower... ORPHA:276244
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Tremor, Splenomegaly, Rigidity, Leukodystrophy, Dysto... OMIM:615010
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy... OMIM:616053
Ceroid Lipofuscinosis, Neuronal, 7
Generalized myoclonic seizure, Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul... ORPHA:100024
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Pancytopenia, Decreased cir... ORPHA:859
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Arthrogrypos... ORPHA:2254
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Optic atrophy, Ataxia ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination, Dystonia OMIM:616684
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Nijmegen Breakage Syndrome-Like Disorder
Ataxia, Short stature, Growth delay, Chromosomal breakage induced by ionizing radiation, Spasticity OMIM:613078
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short stature, T-cell acute lymphoblastic leukemias, Bone marrow hypocell... OMIM:605724
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Short stature, Decreased body ... OMIM:618097
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Prolonged miniature endplate currents, Intrinsic hand muscle atrophy, Fatiga... OMIM:601462
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation, Gait ataxia ORPHA:98916
N Syndrome
Abnormality of chromosome stability, Leukemia, Spasticity, Cryptorchidism OMIM:310465
Autosomal Recessive Spastic Paraplegia Type 43
Babinski sign, Poor fine motor coordination, Spastic paraparesis, Spasticity, Spastic gait ORPHA:320370
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... OMIM:118200
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Short stature, Cerebral atrophy, Myoclonus, Decreased body weight, Failure to... OMIM:619060
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Short stature, Ataxia, Spastic paraparesis ORPHA:2815
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Facial palsy, Chromosomal breakage induced b... OMIM:616435
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Growth delay, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Limb ataxia... OMIM:607136
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, Weakness of facial musculature, Limb muscle weakness, ... OMIM:608930
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Ataxia, Progressive spastic paraparesis, Hoffmann sign, Ba... ORPHA:206448
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy ORPHA:309169
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
Pontocerebellar Hypoplasia, Type 4
Seizure, Gliosis, Myoclonus OMIM:225753
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H... OMIM:205100
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Vocal cor... OMIM:607706
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Cerebellar vermis atrophy OMIM:213200
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Cerebellar atrophy, Gait ataxia ORPHA:217012
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Short stature, Ataxia, Splenomegaly, Cerebral atrophy, CNS demy... OMIM:272200
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Cer... OMIM:618369
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopath... ORPHA:100083
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Chrom... OMIM:609054
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... OMIM:616494
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph... OMIM:209950
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Juvenile Huntington Disease
Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive... ORPHA:248111
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... OMIM:618093
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Myoclonic seizure, Seizure, Status epilepticus... ORPHA:168486
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damag... OMIM:278780
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia, Cerebellar atrophy OMIM:615945
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Facial palsy, Demyelinating motor neuropathy, Rigidity, Head titubation, Babins... OMIM:608804
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Ataxia, Splenomegaly, Myoclonus, Decreased body weight... OMIM:231000
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Gliosis, Neuronal loss in centr... OMIM:256600
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Small for gestational age, Gliosis, Cerebral atrophy OMIM:615095
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Type 2 ... ORPHA:2593
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Small for gestational age, Periphe... OMIM:616733
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... ORPHA:35689
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis OMIM:172700
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus,... OMIM:615924
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Limb ataxia, Progressive cerebellar ata... OMIM:109150
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Ataxia, Chorea, Upper-limb joint contract... ORPHA:300605
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation OMIM:620270
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Ataxia, Cerebral dysmyelination, Portal hypertension, Dysmyelinating leukodystrophy,... OMIM:609136
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Gallbladder dysfu... OMIM:250100
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Myoclonus, Neuronal loss in central nervous system ORPHA:204
Spinocerebellar Ataxia Type 40
Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atrophy, Spastic paraparesis, Intenti... ORPHA:423275
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, Gliosis, Myoclonic spas... OMIM:614498
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Fasciculations, Perip... OMIM:600882
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... OMIM:616719
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, CNS demyelination... OMIM:610245
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... OMIM:612126
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Primary Non-Essential Cutis Verticis Gyrata
Seizure, Gliosis ORPHA:357225
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:253310
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Glios... OMIM:614946
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Seizure, Neurodegenerati... OMIM:214150
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukope... ORPHA:33355
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar hypoplasia, Trun... OMIM:615768
Farber Disease
Short stature, Intrahepatic cholestasis with episodic jaundice, Paraparesis, Lymphadenopathy, Ane... ORPHA:333
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotem... ORPHA:391417
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node germina... ORPHA:277
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... ORPHA:33445
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination, Frequent falls OMIM:611228
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Bilateral tonic-clonic seizure, Infantile spasms, Cerebellar gliosis, ... ORPHA:79243
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... OMIM:169500
Tangier Disease
Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Peripheral demyelination OMIM:205400
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l... OMIM:619164
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocell... ORPHA:391
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis OMIM:616287
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Neurodegeneration, Spastic paraparesis, Or... OMIM:615643
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination, Acanthocytosis OMIM:200100
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria... ORPHA:313772
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... ORPHA:216873
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... OMIM:271225
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, CNS h... OMIM:610532
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... OMIM:613672
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Clonus, Poor coordination, Abnormal pyramidal sign, Spastic parapl... OMIM:238970
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis OMIM:302802
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ataxia, Short stature, Ovarian neoplasm, Ovarian carcinoma, Failure to thriv... OMIM:617883
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Short stature, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leuk... OMIM:612438
Fanconi Anemia, Complementation Group V
Short stature, Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow... OMIM:617243
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Short stature, Ataxia, Tremor, Dysmetria, Gai... OMIM:610185
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Dyskeratosis Congenita, Autosomal Recessive 8
Cerebellar atrophy, Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytope... OMIM:620133
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:604563
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... OMIM:607250
Rhabdoid Tumor
Cerebral palsy, Weight loss, Anemia, Lymphadenopathy, Neoplasm of the liver, Hemiplegia, Thromboc... ORPHA:69077
Caspase 8 Deficiency
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:607271
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat... OMIM:270550
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Ane Syndrome
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy ORPHA:157954
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Clumsiness, Hepatosplenomegaly, Eyelid myoclonus,... ORPHA:2590
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Seizure, Truncal obesity, Gliosis OMIM:300957
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sig... OMIM:616680
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Ataxia, Absent pubertal growth spurt, Short stature, Delayed peripheral my... ORPHA:464282
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N... OMIM:616239
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Optic disc pallor, Ataxia, Gliosis, Limb hypertonia OMIM:612936
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukodyst... OMIM:617916
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:99953
Huntington Disease-Like 1
Cerebellar atrophy, Weight loss, Seizure, Gliosis, Cerebral cortical atrophy ORPHA:157941
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... OMIM:300100
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Spastic paraparesis ORPHA:101077
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Pelizaeus-Merzbacher Disease
Generalized dystonia, Short stature, Writer's cramp, Cerebral dysmyelination, Ataxia, Tremor, Sud... OMIM:312080
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation OMIM:618184
Adducted Thumbs Syndrome
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita OMIM:201550
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia... OMIM:620358
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination ORPHA:99944
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Ataxia, Pneumonia, Recurrent pneumonia, Weight loss, ... ORPHA:420741
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy OMIM:300983
Glutaric Acidemia I
Hepatomegaly, Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Sym... OMIM:231670
Huntington Disease
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Cerebral atrophy... ORPHA:399
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Opti... OMIM:607694
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
Developmental And Epileptic Encephalopathy 82
Cerebellar vermis hypoplasia, Short stature, Spastic tetraplegia, Cerebral atrophy, Spastic parap... OMIM:618721
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal... OMIM:260600
Tuberculosis
Weight loss ORPHA:3389
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... OMIM:600363
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Cerebral atrophy, Seizure, Status epilepticus, Myoclonus, Gliosis, Feb... OMIM:619847
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon... ORPHA:314632
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Seizure, Gliosis OMIM:608033
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spa... OMIM:617284
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Chi... OMIM:609053
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Abnormal pyramidal s... OMIM:614831
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Pa... ORPHA:909
Spinal Arteriovenous Metameric Syndrome
Lymphangioma, Paraparesis ORPHA:53721
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Frequent falls, Onion bulb formation, Facial palsy OMIM:607684
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Leukoencephalopathy With Vanishing White Matter 1
Seizure, Gliosis OMIM:603896
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Paraparesis, Atrophy of the spina... ORPHA:2822
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Inflammation of the large intestine, Weight loss, Lymphadenopathy ORPHA:26790
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... ORPHA:363717
Isaacs Syndrome
Fasciculations, Weight loss ORPHA:84142
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Decreased response to growth hormone stimula... ORPHA:289494
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme... ORPHA:79263
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Seizure, Bilateral tonic-clonic seizure, Gliosis ORPHA:457240
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive... OMIM:619824
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Leigh Syndrome
Seizure, Failure to thrive, Gliosis OMIM:256000
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Babinski sign... OMIM:608703
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Abnormal synaptic tr... ORPHA:683
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia OMIM:600116
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Myopathy, Gliosis, Brain atrophy, Increased variability in ... OMIM:604377
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Spastic paraplegia, Babinski sign, Abnormal CNS myelination, Failure to thrive ORPHA:477673
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Oste... ORPHA:47
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn... ORPHA:47612
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Charcot-Marie-Tooth Disease, Type 4B1
Myelin outfoldings, Irregular myelin loops, Facial palsy OMIM:601382
Lig4 Syndrome
Hepatomegaly, Abnormality of chromosome stability, Pancytopenia, Cryptorchidism, Leukocytosis, Ac... ORPHA:99812
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Short stature, Eczema... OMIM:617052
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Optic atrophy, Dystonia,... ORPHA:330050
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... OMIM:137440
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... ORPHA:98856
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... OMIM:256850
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Peripheral demyelination, Ataxia OMIM:609033
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Short stature, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmet... OMIM:614381
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Sensory ataxia, ... ORPHA:99857
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Short stature, Biliary atresia, Growth delay, Bone marrow hypocellularity OMIM:615272
Developmental Delay And Seizures With Or Without Movement Abnormalities
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia OMIM:617836
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Short stature, Po... ORPHA:1170
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss ORPHA:99868
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Clum... ORPHA:905
Myopathy With Extrapyramidal Signs
Hepatomegaly, Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, C... OMIM:615673
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatic fibrosis, Hepatic steatosis, Hemolytic anemia, Delayed CNS myelination, Hepat... OMIM:619487
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Clonus, Spastic tetraparesis, Delayed myelination, Optic atrophy, Cerebral at... ORPHA:544469
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa... OMIM:601457
Pontocerebellar Hypoplasia, Type 2A
Chorea, Optic atrophy, Congenital contracture, Gliosis, Cerebral cortical atrophy OMIM:277470
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Bradykine... OMIM:617435
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Cerebral cortical atrophy, ... ORPHA:97229
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Corpus callosum atrophy, Gait ataxia, Generalized amyotrophy, Abnor... OMIM:601162
Fragile X Syndrome
Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28, Otitis media, Chronic otitis me... ORPHA:908
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... OMIM:613647
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ... OMIM:619738
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Chromosomal brea... OMIM:603467
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Opti... ORPHA:442835
Leukodystrophy, Hypomyelinating, 24
Peripheral axonal neuropathy, Severe short stature, Cerebral atrophy, B lymphocytopenia, Tongue f... OMIM:619851
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... ORPHA:83469
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Short stature, Abnormal cerebellum morphology, Babinsk... OMIM:275900
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Ataxia, Hypertonia, Bone marrow hypocellula... OMIM:268130
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Prolonged miniatur... ORPHA:98915
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apraxia... OMIM:617810
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Frequent falls, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:601455
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para... ORPHA:444099
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Megaloblastic anemia, Severe demyelination of the white matter, Atrophy of the spinal cor... ORPHA:79282
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia, Cerebral atrophy OMIM:614116
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axon... OMIM:252160
Fanconi Anemia, Complementation Group R
Growth delay, Chiari type I malformation, Anemia, Bone marrow hypocellularity, Chromosomal breaka... OMIM:617244
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia,... OMIM:615846
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodys... ORPHA:137898
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Delayed CNS myelination, Aplastic anemia, Patent ductus arte... OMIM:300514
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro... OMIM:617710
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Decreased number of large peripheral myelinated nerve fibers, ... OMIM:162400
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Failure to thr... ORPHA:90103
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spastici... OMIM:210000
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... ORPHA:98850
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... OMIM:210900
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Ataxia, Proportionate short stature, Spastic tetraparesis, Babinski sign, W... ORPHA:3208
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Se... OMIM:617193
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly ORPHA:2576
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... OMIM:300894
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Icf Syndrome
Abnormality of chromosome stability, Short stature, Abnormality of neutrophils, Decreased circula... ORPHA:2268
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Peripheral axonal neuropathy, Ataxia OMIM:619099
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, Ectopic posterior pituitary, Cerebellar vermis hypop... ORPHA:98889
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Dysmetria, Gait ataxia OMIM:618090
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Cerebral cortical atrophy, Weight loss ORPHA:1164
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Dystonia, Cerebral cortical hemia... ORPHA:306669
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Paraparesis, Nephritis,... ORPHA:449427
Poliomyelitis
Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations, Myelitis, Infectious encephalitis... ORPHA:2912
Rift Valley Fever
Skin rash, Paralysis, Paraparesis, Jaundice, Hepatitis, Uveitis, Anemia, Hemiparesis, Increased c... ORPHA:319251
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of th... ORPHA:33276
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axonal l... OMIM:252150
Lissencephaly, X-Linked, 2
Seizure, Gliosis OMIM:300215
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra... ORPHA:70594
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Ataxia, Dysmetria OMIM:617917
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tremor, Limb tremor, Facial diple... OMIM:218000
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Failure to thrive, Cachexia, Weight loss OMIM:612075
Charcot-Marie-Tooth Disease, Type 4B3
Myelin outfoldings, Onion bulb formation, Brain atrophy OMIM:615284
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Recurrent skin infections, Tremor, Decreased circulating antibody level, Growth de... OMIM:617744
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Spasti... ORPHA:289560
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Slender build, Cachexia, Weight loss OMIM:613662
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Hypertonia, Cerebellar hypoplasia, Failure to thrive OMIM:619556
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Charcot-Marie-Tooth Disease Type 4A
Decreased number of large peripheral myelinated nerve fibers, Poor gross motor coordination, Poor... ORPHA:99948
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycl... ORPHA:255210
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit... ORPHA:133
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Seizure, Neurodegeneration, Atrophy/Degeneration affecting the brainstem OMIM:612319
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... ORPHA:93941
Christianson Syndrome
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Aplasia/Hypoplasia of the ce... ORPHA:85278
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss, Lymphadenopathy, Nodular goiter, Goiter ORPHA:142
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Pontocerebel... OMIM:608799
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Immunodeficiency 102
Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r... OMIM:301082
Ataxia-Telangiectasia
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circul... OMIM:208900
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers OMIM:615376
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c... ORPHA:100070
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Hypoparathyroidism, Spastic tet... ORPHA:496756
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Macroglossia, Cerebral cor... OMIM:248500
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Myoclonic-Atonic Epilepsy
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus OMIM:616421
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Myoclonus, Peripheral dysmyelination, Neuronal loss in central... OMIM:260565
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Spi... OMIM:162210
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, ... ORPHA:363400
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atro... OMIM:618877
Oculopharyngodistal Myopathy
Vocal cord paresis, Recurrent aspiration pneumonia, Paraplegia, Weight loss ORPHA:98897
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Lymphadenopat... ORPHA:139402
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Leukodystrophy, Otitis media, Hepatic steatosis, Intention tremor, Ataxia, Ov... OMIM:619475
Fanconi Anemia, Complementation Group O
Chromosome breakage, Short stature, Cryptorchidism OMIM:613390
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Opt... ORPHA:254930
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... OMIM:618108
Arachnoid Cyst
Facial palsy, Paraparesis, Cranial nerve compression, Abnormal cerebellum morphology, Slurred spe... ORPHA:2356
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy, ... ORPHA:1332
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, C... OMIM:616005
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Small for gestational age, Thrombocytopenia, Chromosomal breakage in... OMIM:227645
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... OMIM:613280
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Splenome... ORPHA:824
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cerebellar atrophy, Abnormal peripheral myelination, Tremor, Atrophy of the spinal cord, Upper mo... ORPHA:466768
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Tremor, Cryptorchidism, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Cerebral... ORPHA:1192
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Infantile spasms, Cerebral atrophy, Seizure, Neurodegeneration, Myoclonus, Gliosis OMIM:618321
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... OMIM:615490
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... OMIM:618986
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Short stature, Ataxia ORPHA:1368
Mirage Syndrome
Short stature, Cryptorchidism, Patent ductus arteriosus, Paraplegia, Anemia, Leukopenia, Aspirati... OMIM:617053
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Aspiration pneumonia, Spastic... ORPHA:216866
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... OMIM:102700
Spinocerebellar Ataxia 42
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Peripheral axonal neuropathy, Parkinsonism, Spastic paraparesis ORPHA:397725
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Seizure, Diffuse cerebral atrophy, Gliosis ORPHA:3240
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia OMIM:617162
Fanconi Anemia, Complementation Group L
Chromosome breakage, Delayed CNS myelination, Anemia, Growth delay, Bone marrow hypocellularity, ... OMIM:614083
Gm1 Gangliosidosis
Generalized dystonia, Short stature, Ataxia, Tremor, Splenomegaly, Patent ductus arteriosus, Opti... ORPHA:354
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit... OMIM:300055
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... OMIM:616505
Xeroderma Pigmentosum, Complementation Group F
Short stature, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damage, Brain atr... OMIM:278760
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Small for gestational age, Chromosomal breakage induced by crosslink... OMIM:600901
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral a... OMIM:203700
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Short stature, Cachexia, Ataxia, Optic atrophy, Choreoathetosis, Dy... ORPHA:702
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Sialidosis Type 2
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly ORPHA:87876
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Goiter, Periodic paralysis, Weight loss OMIM:613239
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Fatigable weakness of neck muscles, Gl... ORPHA:26791
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Mitochondrial Neurogastrointestinal Encephalomyopathy
Peripheral axonal neuropathy, Cachexia, Demyelinating peripheral neuropathy, Decreased number of ... ORPHA:298
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607831
Holocarboxylase Synthetase Deficiency
Ataxia, Eczema, Weight loss, Growth delay, Keratoconjunctivitis, Thrombocytopenia, Perioral eczema ORPHA:79242
Kleefstra Syndrome Due To A Point Mutation
Seizure, Failure to thrive, Gliosis, Large for gestational age ORPHA:261652
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss, Lymphadenopathy ORPHA:2221
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Small for gestational age, Chromosomal breakage induced by crosslink... OMIM:227650
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... ORPHA:94080
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Onion bulb formation OMIM:614455
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Erythroderma,... ORPHA:3162
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Ataxia, Optic atrop... OMIM:614298
Brucellosis
Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased circu... ORPHA:1304
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor ... OMIM:617013
Triosephosphate Isomerase Deficiency
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tre... OMIM:615512
Radial-Renal Syndrome
Chromosome breakage, Short stature OMIM:179280
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Chronic Hiccup
Weight loss ORPHA:396
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Autoimmune ... ORPHA:760
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Anemia ORPHA:75233
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Sensory axonal... ORPHA:98764
Spastic Paraplegia 9B, Autosomal Recessive
Short stature, Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Tetraplegia, G... OMIM:616586
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore... OMIM:612164
Mohr-Tranebjaerg Syndrome
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Optic atrophy, Abnormal p... ORPHA:52368
Cockayne Syndrome B
Hepatomegaly, Failure to thrive, Severe short stature, Small for gestational age, Abnormal periph... OMIM:133540
Nephroblastoma
Neoplasm of the liver, Weight loss, Lymphadenopathy ORPHA:654
Pelizaeus-Merzbacher Disease, Connatal Form
Gliosis, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Ataxia ORPHA:280210
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal myelination, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Micron... ORPHA:309854
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Bronchiectasis, Lymphadenopathy ORPHA:411703
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph... OMIM:266600
Erythrokeratodermia Variabilis
Skin rash, Abnormal testis morphology, Short stature, Weight loss ORPHA:317
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Spastic parap... ORPHA:363722
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia OMIM:168605
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Hepatomegaly, Self-mutila... ORPHA:2388
Sneddon Syndrome
Facial palsy, Tremor, Decreased circulating total IgM, Hemiplegia, Lymphopenia OMIM:182410
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Ataxia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:3452
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Ddost-Cdg
Short stature, Tremor, Oromotor apraxia, CNS hypomyelination, Failure to thrive, Hepatic steatosis ORPHA:300536
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babi... OMIM:128100
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Failure to thrive, Short stature, Abnormal peripheral myelinati... OMIM:216400
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti... ORPHA:228360
Typhoid
Hepatomegaly, Ataxia, Skin rash, Tremor, Splenomegaly, Hypertonia, Infectious encephalitis ORPHA:99745
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Small for gestational age, Thrombocytopenia, Chromosomal breakage in... OMIM:227646
Sjogren-Larsson Syndrome
CNS demyelination, Spasticity, Short stature, Spastic paraparesis OMIM:270200
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Cachexia, Babinski sign, CNS hypomyelination, Facial diplegia, Dystonia, Spas... OMIM:618186
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Growt... ORPHA:90362
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration OMIM:615889
Parkinson Disease 1, Autosomal Dominant
Gliosis, Myoclonus, Global brain atrophy OMIM:168601
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o... ORPHA:400
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... ORPHA:320375
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Oculomo... ORPHA:529665
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Rhizomelia, Patent ductus arteriosus, Weight loss, Severe short-limb dwarfism, Fail... ORPHA:1842
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Small for gestational age, Proportionate short stature, Severe demyelination of the white matter,... ORPHA:391408
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy OMIM:607485
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Rhizomelia, Ataxia, Tremor, Recurrent pneumonia, Cerebral atrophy, ... OMIM:616271
Familial Acute Necrotizing Encephalopathy
Seizure, Gliosis ORPHA:88619
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... OMIM:618060
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Frequent falls, Optic... ORPHA:99949
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen... ORPHA:520
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Patent ductus arteriosu... OMIM:620327
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Abnormal pons morphology, Elevated circula... ORPHA:85327
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Cerebral atrophy, Hypertonia, Intrauterine growth retarda... OMIM:616801
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Short stature, Parkinsonism, Tremor, Obesity, Macroorchidism ORPHA:3077
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... ORPHA:101085
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Recurrent tons... ORPHA:171876
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Seizure, Neurodegeneration OMIM:620210
Fanconi Anemia, Complementation Group U
Growth delay, Unilateral facial palsy, Patent ductus arteriosus, Chromosome breakage OMIM:617247
Tay-Sachs Disease
Cerebellar atrophy, Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Opti... ORPHA:845
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, W... ORPHA:85408
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Short stature, Cachexia ORPHA:1389
Neuroblastoma, Susceptibility To, 1
Ataxia, Weight loss, Myoclonus, Failure to thrive, Ganglioneuroma, Anemia OMIM:256700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Small for gestational age, Ataxia, Cerebellar vermis hypoplasia, Increased hepatocellul... OMIM:220111
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ... ORPHA:284
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse... ORPHA:478029
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Peripheral hypomyelination, Action tremor ORPHA:199343
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Cryptorchidism, Growth delay, Anemia, Chromosomal breakage induced b... OMIM:613951
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Scheie Syndrome
Hepatomegaly, Cerebral palsy, Splenomegaly, Rhinitis, Spastic paraparesis ORPHA:93474
Q Fever
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Thro... ORPHA:781
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Ata... OMIM:214500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Periodic paralysis, Weight loss OMIM:188580
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
Scrub Typhus
Anterior uveitis, Skin rash, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encep... ORPHA:83317
Leigh Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Chorea, Optic a... ORPHA:506
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Ataxia, Impaired T cell function, Tremor, Splenomegaly, Failure to t... OMIM:201100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Aicardi-Goutières Syndrome
Myositis, Tremor, Abnormal pyramidal sign, Hypertonia, Leukodystrophy, Extrapyramidal muscular ri... ORPHA:51
Acute Transverse Myelitis
Abscess, Paraparesis, Babinski sign, Paraplegia, Abnormality of extrapyramidal motor function, CN... ORPHA:139417
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor, Atrophy of the spinal cord, Increased circulating antibody level, Fascicula... ORPHA:99965
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Skin rash, Pustule, Splenomegaly, Cervical lym... ORPHA:50918
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Delayed CNS myelination, Ataxia, Splenomegaly, Schistocytosis, Hypochromic ... OMIM:616084
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... OMIM:105210
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l... ORPHA:100086
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... ORPHA:2552
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Short stature, Ataxia, Eczema, Postnatal growth retardation, Thyroiditis, Weig... OMIM:212750
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Flexion contracture,... OMIM:301072
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Takayasu Arteritis
Increased inflammatory response, Weight loss, Arthritis, Inflammatory abnormality of the eye, Anemia ORPHA:3287
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Optic disc pallor, Limb joint contracture, Facial hypotonia, Achilles tendon ... ORPHA:404454
Aceruloplasminemia
Refractory anemia, Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involu... ORPHA:48818
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... ORPHA:100080
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... ORPHA:646
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Chiari type I malformat... ORPHA:221098
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Tremor, Chorea, Abnormal pyramidal si... OMIM:606002
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ... ORPHA:324964
X-Linked Creatine Transporter Deficiency
Short stature, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Atopic dermatitis, Weight loss, Anemia ORPHA:2070
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Bilateral tonic-clonic seizure, Corpus callosum atrophy, Seizure, Gliosis, Fa... OMIM:261515
Waardenburg Syndrome, Type 4A
Ataxia, Leukodystrophy, Spastic paraparesis OMIM:277580
Polyarteritis Nodosa
Pericarditis, Polyneuritis, Sensory axonal neuropathy, Weight loss ORPHA:767
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Short stature, Ataxia, Hepa... OMIM:256810
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... OMIM:619381
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Tremor, Splenomegaly, Jaundice, Keratitis, Neutropenia in presence of... ORPHA:525731
Meningioma
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Reduced cir... ORPHA:2495
Focal Myositis
Myositis, Weight loss ORPHA:48918
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... ORPHA:160
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia... ORPHA:99027
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormal peripheral myelination, Increased circulating gonadotropin level, Testicul... ORPHA:168563
Rett Syndrome
Dystonia, Short stature, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity, Cerebra... OMIM:312750
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation ORPHA:1133
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Hemiplegia/hemipar... ORPHA:183
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Seizure, Neurodegene... ORPHA:391428
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Gm2 Gangliosidosis, Ab Variant
Seizure, Neurodegeneration, Cerebral atrophy ORPHA:309246
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Uveitis, Tetraparesis, Spasticity OMIM:164200
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased motor nerv... ORPHA:79139
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Short stature OMIM:602361
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Babinski sign, CNS hypomyelination, Growth delay, Spastic paraparesis, Han... ORPHA:280229
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Anemia, Hepatomegaly ORPHA:2930
Fatal Familial Insomnia
Neuronal loss in central nervous system, Ataxia, Myoclonus, Weight loss OMIM:600072
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Short stature, Dysdiadochokinesis, Peripheral hypomyelination, Chroni... OMIM:612780
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... ORPHA:97287
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Rigidity, Weight loss, Bradykinesia, Dystonia, Parkinsonism with fa... ORPHA:411602
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of chromosome stability, Rhizomelia, Abnormality of the pancreas, Decre... ORPHA:175
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Senile plaques, Neuronal l... OMIM:601104
Malt Lymphoma
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Posterior uveitis, Anemia ORPHA:52417
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Tremor, Dysmetria, Intrauterine growth retardation, Hypersegmentation of neutr... OMIM:615578
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Short stature... ORPHA:647
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis, Weight loss ORPHA:2902
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... ORPHA:449400
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Hepa... ORPHA:1333
Jaberi-Elahi Syndrome
Appendicular spasticity, Tremor, Optic atrophy, Cerebellar vermis atrophy, Dysmetria, Gait ataxia... OMIM:617988
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato... ORPHA:79128
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Ataxia, Postnatal growth retardation, Thrombocytopenia, Tremor, Optic atrophy, Abn... OMIM:612199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Chorea... OMIM:615356
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Delay... ORPHA:572798
12Q14 Microdeletion Syndrome
Short stature, Tremor, Abnormality of the spleen, Chiari malformation, Intrauterine growth retard... ORPHA:94063
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Caudate atrophy, Cerebellar vermis hypopl... OMIM:615574
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Optic atrophy, Spastic diplegia, Opist... ORPHA:206436
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Abnormal superior cerebellar peduncle morphology, Torticollis, Jaundice... ORPHA:370348
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... ORPHA:100082
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Dysmetria, Hand tremor, Truncal obesity, Spastic paraparesis, Decreased testicular size ORPHA:3041
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Argininemia
Cerebellar atrophy, Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestas... OMIM:207800
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Weight loss, Lymphadeno... ORPHA:85450
Flynn-Aird Syndrome
Ataxia, Cerebral cortical atrophy, Cachexia ORPHA:2047
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Leukocytosis, Jaundice, Lipid accu... ORPHA:20
Gm2-Gangliosidosis, Ab Variant
Seizure, Neurodegeneration, Cerebral atrophy, Myoclonic seizure OMIM:272750
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Ataxia, Acne, Orchitis, Splenomegaly, Re... ORPHA:117
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... ORPHA:723
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Hirschsprung Disease
Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Cirr... ORPHA:465508
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Cerebral atrophy, Grow... OMIM:222300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Iron deficiency anemia, Inflammation... OMIM:301074
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Atrophy of the spinal cord, Optic atrophy, Hemiparesis, Brain atro... ORPHA:395
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... ORPHA:167
X-Linked Charcot-Marie-Tooth Disease Type 2
Optic disc pallor, Clasp-knife sign, Optic neuropathy, Babinski sign, Hand tremor, Spastic parapa... ORPHA:101076
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Abnormal oligodendroglia morphology, ... ORPHA:217260
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Giant Cell Arteritis
Pericarditis, Ataxia, Mediastinal lymphadenopathy, Optic atrophy, Weight loss, Arthritis ORPHA:397
Graves Disease, Susceptibility To, 1
Goiter, Weight loss OMIM:275000
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Pancreatitis ORPHA:188
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Short stature, Cachexia ORPHA:1933
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Mitochondrial Complex I Deficiency, Nuclear Type 2
Seizure, Gliosis OMIM:618222
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Short stature, T... ORPHA:84
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Poems Syndrome
Papilledema, Weight loss, Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, ... ORPHA:2905
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology ORPHA:139578
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... OMIM:618056
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Iron deficiency anemia, Paragan... ORPHA:100075
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Optic ... OMIM:181000
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Delayed CNS myelination, Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Cirrhosis, B... OMIM:616539
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Short stature, Abnormal cerebellum morphology, Babinski sign, Slurred speech, Gro... ORPHA:101000
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Leukocytosis, Weight loss, Extrapyramidal dyskinesia, Thrombocytosis, Spast... ORPHA:134
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulatin... ORPHA:29073
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... ORPHA:90003
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss, Acute leukemia ORPHA:729
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:29072
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Facial hypotonia, Chorea, Intrinsic hand muscle atrophy, Dysmetria, Athetosis... OMIM:615273
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Renpenning Syndrome
Growth delay, Severe short stature, Decreased testicular size, Cachexia ORPHA:3242
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Ataxia, Cachexia, Hepatomegaly ORPHA:42
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Seizure, Abnormal spinal cord morphology, Axonal degeneration ORPHA:88628
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Small for gestational age, Failure to thrive in infancy, Typical ... ORPHA:268261
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Hand tremor, Weight loss ORPHA:99819
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Peripheral axonal neuropathy, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progres... OMIM:607459
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Optic atro... OMIM:234200
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Portal ... ORPHA:1454
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology ORPHA:99947
Say-Barber-Miller Syndrome
Short stature, Eczema, Impaired neutrophil chemotaxis, Erythema nodosum, Cryptorchidism, Babinski... ORPHA:3132
Cockayne Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Optic disc pallor, Atax... ORPHA:191
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Cachexia, Skin rash, Optic atrophy, Spasticity, Demyelinating peripheral n... ORPHA:220295
Papillorenal Syndrome
Seizure, Gliosis OMIM:120330
Congenital Tufting Enteropathy
Optic disc coloboma, Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failu... ORPHA:92050
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Pituitary adenoma, A... ORPHA:144
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Short stature, Ataxia, Cryptorchidism, Spastic paraparesis ORPHA:369891
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Spastic tetraplegia, Severe failure to thrive, Intrauterine growth retar... ORPHA:371364
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis OMIM:231680
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Cachexia, Paralysis, Splenomegaly, Abnormality of the spleen, Thromboc... ORPHA:2072
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Tremor, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activ... OMIM:251100
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
African Trypanosomiasis
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Papilledema, Hepatomegaly, Abnormal central moto... ORPHA:3385
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Gliosis, Generalized myoclonic seizure, Neuronal loss in central nervo... OMIM:300868
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Pituitary adenoma, A... ORPHA:440437
Ménétrier Disease
Giant hypertrophic gastritis, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Hurler Syndrome
Hepatomegaly, Cerebral palsy, Short stature, Abnormality of the tonsils, Splenomegaly, Abnormal p... ORPHA:93473
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Weight loss, Constrictive pericarditis,... ORPHA:67
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Listeriosis
Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis... ORPHA:533
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA lev... ORPHA:2298
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ... OMIM:601495
Supranuclear Palsy, Progressive, 2
Neuronal loss in central nervous system, Gliosis, Granulovacuolar degeneration OMIM:609454
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ... OMIM:168600
Bohring-Opitz Syndrome
Short stature, Delayed peripheral myelination, Mesomelic/rhizomelic limb shortening, Supernumerar... OMIM:605039
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Sial... ORPHA:449395
Wilson Disease
Hepatocellular carcinoma, Tremor, Osteoarthritis, Hand tremor, Limb dystonia, Hepatic steatosis, ... OMIM:277900
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Small for gestational age, Ataxi... ORPHA:699
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Cerebral atrophy, Seizure, Gliosis, Failure to thrive OMIM:124000
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... ORPHA:199299
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Abnormal medulla oblongata morphology, Facial palsy, Paralysis, T... ORPHA:297
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Acrodermatitis Enteropathica
Short stature, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis, C... ORPHA:37
Cerebral Visual Impairment
Central nervous system degeneration, Seizure, Neurodegeneration ORPHA:447788
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Skin rash, Tremor, Abnormality of the pancreas, Jaundice, Abnormal pin... ORPHA:69665
Helsmoortel-Van Der Aa Syndrome
Tonic seizure, Typical absence seizure, Obesity, Seizure, Truncal obesity, Gliosis, Failure to th... OMIM:615873
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Secondary Short Bowel Syndrome
Enterocolitis, Cholestasis, Weight loss, Growth delay, Failure to thrive ORPHA:95427
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Poor coordination, Optic atrophy, Defective DNA repair after ultr... OMIM:610965
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Failure to thrive in infancy ORPHA:477817
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Mucopolysaccharidosis, Type Ii
Seizure, Neurodegeneration, Cervical cord compression OMIM:309900
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Erdheim-Chester Disease
Osteomyelitis, Ataxia, Skin rash, Retroperitoneal fibrosis, Abnormal cerebellum morphology, Weigh... ORPHA:35687
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Vacu... ORPHA:275761
Adrenomyeloneuropathy
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... ORPHA:139399
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
8P23.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Patent ductus arteriosus, Obesity, Weight loss, Growth delay, Intr... ORPHA:251071
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P... ORPHA:31204
Osteosarcoma
Weight loss ORPHA:668
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Ataxia, Weight loss, Apraxia, Pancreatic hypoplasia, Intrauterine g... ORPHA:99885
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Optic atrophy, Vocal cord paralysis, Poor fine motor coordination, Myelin outfoldings ORPHA:99956
Cutis Laxa, Autosomal Recessive, Type Iid
Seizure, Failure to thrive, Gliosis OMIM:617403
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Focal-onset seizure, Seizure, Neurodegeneration OMIM:618476
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growt... ORPHA:293978
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Liposarcoma
Weight loss ORPHA:69078
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Jaundice, Patent ductus arteriosus, Cerebral atrophy, Growth delay, Hyp... OMIM:617248
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine c... ORPHA:100078
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Familial Glucocorticoid Deficiency
Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Leydig cell neoplasia, F... ORPHA:361
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:913
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Polymyositis
Hepatomegaly, Pericarditis, Arthritis, Weight loss ORPHA:732
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Abnormal spinal cord morphology, Seizure, Limb myoclonus, Global brain atrophy ORPHA:139396
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Patent ductus arteriosus, Multilobulated spl... OMIM:601186
X-Linked Intellectual Disability, Cabezas Type
Short stature, Cachexia, Tremor, Obesity, Decreased testicular size ORPHA:85293
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97282
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Seizure, Neurodegeneration, Cerebral atrophy OMIM:610217
Camurati-Engelmann Disease
Hepatomegaly, Ataxia, Facial palsy, Cachexia, Splenomegaly, Optic atrophy, Leukopenia, Delayed pu... ORPHA:1328
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Silver-Russell Syndrome
Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth retardation, Cryptorchidi... ORPHA:813
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine growth retardation, Fa... ORPHA:217346
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Elevated circulating growth hormone concentrat... ORPHA:97280
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Ce... OMIM:615530
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Chronic otitis media, Prosta... ORPHA:900
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a... ORPHA:85443
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ren... ORPHA:49041
Eales Disease
Optic disc pallor, Anterior uveitis, Spastic paraparesis ORPHA:40923
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers OMIM:201300
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... OMIM:146500
Oculopharyngodistal Myopathy 1
Ataxia, Facial palsy, Tremor, Weight loss, Brain atrophy OMIM:164310
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Spastic paraparesis OMIM:500013
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Cranial nerve compression, Pitu... ORPHA:652
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Spastic parap... OMIM:619234
Mucolipidosis Type Ii
Short stature, Postnatal growth retardation, Splenomegaly, Weight loss, Hepatosplenomegaly, Otiti... ORPHA:576
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97283
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... ORPHA:79102
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Seizure, Neurodegeneration, Cerebral atrophy OMIM:616878
Sarcoidosis
Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hemolytic anemia, Hepa... ORPHA:797
Diets-Jongmans Syndrome
Seizure, Gliosis OMIM:618846
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Diffuse cerebral atrophy, Severe B lymphocytopenia, Superficial dermal perivascular... ORPHA:83617
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anemia OMIM:175500
Split Cord Malformation
Paraparesis, Chiari malformation ORPHA:573278
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss ORPHA:2126
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Short Syndrome
Severe short stature, Weight loss ORPHA:3163
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Growth delay, Otitis media, Chronic rhinitis... ORPHA:667
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Acute Disseminated Encephalomyelitis
Myelitis, Seizure, Abnormal spinal cord morphology, Atypical absence status epilepticus ORPHA:83597
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Biotinidase Deficiency
Ataxia, Skin rash, Optic neuropathy, Optic atrophy, Conjunctivitis, Spastic paraparesis, Eczemato... ORPHA:79241
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Conjunctivitis, Pancreatitis, Anemia ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss, Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Growth delay, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine ... ORPHA:309031
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Tremor, Increased ci... ORPHA:91347
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, Inflammation of the lar... ORPHA:29207
Addison Disease
Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Thiamine-responsive megaloblas... ORPHA:85138
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Peripheral hypomyelination OMIM:618733
Epidermal Nevus Syndrome
Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Hypertonia ORPHA:35125
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss ORPHA:1501
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Growth delay, Incoordination OMIM:223900
Malignant Atrophic Papulosis
Peritonitis, Arteritis, Weight loss ORPHA:679
Superficial Siderosis
Cerebellar atrophy, Atrophy of the spinal cord, Abnormal spinal cord morphology, Seizure, Atrophy... ORPHA:247245
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration OMIM:615919
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis OMIM:256800
Trisomy 18
Short stature, Cachexia, Cryptorchidism, Growth delay, Hypertonia, Chiari malformation, Intrauter... ORPHA:3380
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermedia... ORPHA:91500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Failure to thrive, Delayed peripheral myelination ORPHA:364577
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Distal arthrogryposis, Facial hypotonia, Gliosis ORPHA:506358
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Cystinosis, Nephropathic
Hepatomegaly, Short stature, Failure to thrive in infancy, Splenomegaly, Cerebral atrophy, Weight... OMIM:219800
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Oculodentodigital Dysplasia
Ataxia, Optic atrophy, Spastic paraparesis, Aplasia/Hypoplasia of the cerebellum, Spasticity ORPHA:2710
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Weight loss, Arthritis ORPHA:93672
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Failure to thrive, Aspiration pneumonia, Weight loss ORPHA:1018
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Weight loss, Delayed puberty ORPHA:95409
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Hurler Syndrome
Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Foix-Alajouanine Syndrome
Progressive spastic paraparesis, Frequent falls, Myelitis ORPHA:79093
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia ORPHA:79430
Juvenile Polyposis Of Infancy
Refractory anemia, Short stature, Cachexia, Patent ductus arteriosus, Anemia ORPHA:79076
Schwartz-Jampel Syndrome
Short stature, Cachexia, Blepharospasm, Hypertonia, Decreased body weight, Testicular torsion, De... ORPHA:800
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weight loss, Arthritis ORPHA:221
Nijmegen Breakage Syndrome
Neurodegeneration, Glioma OMIM:251260
Bannayan-Riley-Ruvalcaba Syndrome
Short stature, Hashimoto thyroiditis, Cachexia ORPHA:109
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Testicular microlithiasis, Bronchiectasis, Weight loss ORPHA:60025
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Aspiration pneumonia, Weight loss ORPHA:2020
Norrie Disease
Clonus, Cachexia, Cryptorchidism, Optic atrophy, Hypertonia, Delayed puberty, Aplasia/Hypoplasia ... ORPHA:649
Stickler Syndrome
Short stature, Cachexia, Hemiplegia/hemiparesis, Osteoarthritis, Uveitis, Chronic otitis media, S... ORPHA:828
Amoebiasis Due To Free-Living Amoebae
Seizure, Abnormal spinal cord morphology ORPHA:68
Microphthalmia, Syndromic 2
Short stature, Cryptorchidism, Patent ductus arteriosus, Spastic paraparesis, Decreased body weig... OMIM:300166
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Urinary bladder inflammation, Bronchiectasis, Weight loss, Arthritis, Ke... ORPHA:99921
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Proteus Syndrome
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Acne, Testicular adrenal rest tumor, Weight loss, Failure to thrive, Decreased tes... ORPHA:90794
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly ORPHA:75565
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Delayed menarche, Osteoarthritis, Weight loss ORPHA:740
Marfan Syndrome
Arthralgia/arthritis, Slender build, Cachexia ORPHA:558
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Goodpasture Syndrome
Glomerulonephritis, Anemia, Weight loss OMIM:233450
Primary Sjögren Syndrome
Seizure, Abnormal spinal cord morphology ORPHA:289390
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida ORPHA:2369
Tetrasomy 9P
Seizure, Abnormal spinal cord morphology ORPHA:3310
Primrose Syndrome
Seizure, Neurodegeneration, Truncal obesity OMIM:259050
Intellectual Developmental Disorder, Autosomal Dominant 38
Cerebral atrophy, Infantile spasms, Generalized tonic seizure OMIM:616393

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Eef1a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Eef1a2.

No publications found that use IMPC mice or data for Eef1a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Eef1a2tm35669(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eef1a2em1(IMPC)Hmgu Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter