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microcephaly-thin corpus callosum-intellectual disability syndrome

Disease Summary
Associated Targets (1)
Tbio

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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
Orphanet:397951: 
UMLS:C3810080: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found