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Article

Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.

American journal of medical genetics. Part A - 1 Jun 2026

Gowda Vykuntaraju K, Roy Amaresh, Disha B, Govindaraj Periyasamy, Srinivasan Varunvenkat M

Abstract excerpt

Biallelic variants in the STAMBP gene are known to cause Microcephaly-capillary malformation syndrome (MICCAP syndrome). Here we report an 18-month-old female with a novel splice site variant, c.376-1G>A in intron-4, with the phenotype of a patient who presented to us with fetal onset growth retardation, developmental delay, drug-resistant seizures, multiple capillary malformations, dysmorphism, tone...

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Identifiers

PMID: 41603106
DOI: 10.1002/ajmga.70067

Genes

STAMBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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