Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... |
ORPHA:90283 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal oligodendroglia morphology, Abnormal astrocyte morphology, CNS demyelination |
ORPHA:217260 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Complement Component C1S Deficiency |
|
Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of olig... |
OMIM:312080 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Complex Regional Pain Syndrome |
|
Dysesthesia, Trophic changes related to pain, Allodynia, Somatic sensory dysfunction |
ORPHA:83452 |
Developmental And Epileptic Encephalopathy 14 |
|
Gliosis, Delayed myelination |
OMIM:614959 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Microcephaly 10, Primary, Autosomal Recessive |
|
CNS hypomyelination, Gliosis, Delayed myelination |
OMIM:615095 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Impaired tactile sensation, Allodynia, Hyperesthesia |
ORPHA:51890 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Abnormal myelination |
OMIM:618324 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Gliosis |
OMIM:604484 |
Trigeminal Neuralgia |
|
Paresthesia, Somatic sensory dysfunction, Allodynia |
ORPHA:221091 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Cerebral hypomyelination, CNS demyelination |
OMIM:603896 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... |
ORPHA:79480 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis |
OMIM:300857 |
L-2-Hydroxyglutaric Aciduria |
|
Gliosis, Severe demyelination of the white matter |
OMIM:236792 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Leukodystrophy, Symmetric peripheral demyelination, Gliosis |
OMIM:169500 |
Neurotrophic Keratopathy |
|
Allodynia, Hyperesthesia |
ORPHA:137596 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal myelination, Gliosis, Cerebral hypomyelination |
ORPHA:280210 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Hypoesthesia, Allodynia, Distal sensory impairment, Dementia |
OMIM:603041 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormal myelination |
ORPHA:442835 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Monosomy 18Q |
|
Abnormal myelination, Astrocytoma |
ORPHA:1600 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Astrocytosis |
ORPHA:309854 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal myelination, Abnormal peripheral myelination, Mixed demyelinating and axonal polyneuropathy |
ORPHA:466768 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Abnormal myelination, Gliosis, Delayed myelination |
ORPHA:404454 |
Cockayne Syndrome Type 3 |
|
Abnormal myelination, Demyelinating peripheral neuropathy, Astrocytosis |
ORPHA:90324 |
Degcags Syndrome |
|
Abnormal myelination |
OMIM:619488 |
Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |