World Of Taxonomy
C192098Level 4

Microcephaly-Capillary Malformation Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay.

**Synonyms:** - MICCAP

GET/api/v1/systems/nci_thesaurus/nodes/C192098
Official DownloadCC BY 4.0Source

Hierarchy Explorer

Loading...

Cross-system equivalences0

No cross-system equivalences mapped for this node.