Preferred Label : Brachial amelia, cleft lip, and holoprosencephaly;
Symbol : ACLH;
CISMeF acronym : ACLH;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Brachial amelia, forebrain defects, and facial clefts;
Description : Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital
anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects
consistent with holoprosencephaly. Although the disorder is rarely reported, the features
are consistent enough to constitute a distinct entity (summary by Kariminejad et al.,
2009).;
Inheritance : Isolated cases;
Prefixed ID : %601357;
Origin ID : 601357;
UMLS CUI : C1832434;
Currated CISMeF NLP mapping
HPO term(s)
Semantic type(s)
UMLS correspondences (same concept)