Ontology highlight
ABSTRACT:
SUBMITTER: Bayram Y
PROVIDER: S-EPMC4332576 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20140714 9
GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome a clinically recognizable phenotype. While this genomic study was in progress mutat ...[more]