microphthalmia with brain and digit anomalies
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
MONDO:0016073
syndromic microphthalmia
is_a
MONDO:0100613
BMP4-related ocular growth disorder
is_a
Bakrania-Ragge syndrome
exact
MCOPS6
exact
anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
related
microphthalmia syndromic 6
related
microphthalmia with brain and digit anomalies
exact
microphthalmia, syndromic 6
related
microphthalmia, syndromic type 6
exact
syndromic microphthalmia type 6
exact