Severe microcephalyGene: SMO
Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis).
Sources: Expert list
Created: 3 Sep 2020, 8:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Microcephaly, congenital heart disease, polydactyly, aganglionosis
Variants in this GENE are reported as part of current diagnostic practice
gene: SMO was added gene: SMO was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMO were set to 32413283 Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis Review for gene: SMO was set to GREEN gene: SMO was marked as current diagnostic