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microcephaly-thin corpus callosum-intellectual disability syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT40 affected individuals also show microcephaly, spasticity, thin corpus callosum, pyramidal signs.
Mondo Term and Equivalent IDs
MONDO:0014273: microcephaly-thin corpus callosum-intellectual disability syndrome
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615599
Orphanet:397951
UMLS:C3810080
MONDO:0014273
High level summary of knowledge for a disease, including descriptions and datasource references.