Clefting disorders
Gene: CDH1
The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. At least 5 unrelated families reported.Created: 11 Nov 2021, 10:28 p.m. | Last Modified: 11 Nov 2021, 10:28 p.m.
Panel Version: 0.145
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Blepharocheilodontic syndrome 1, MIM# 119580
Publications
Gene: cdh1 has been classified as Green List (High Evidence).
Phenotypes for gene: CDH1 were changed from Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC to Blepharocheilodontic syndrome 1, MIM# 119580
Publications for gene: CDH1 were set to 27566442; 28301459
Mode of inheritance for gene: CDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: CDH1 was added gene: CDH1 was added to Clefting_GEL. Sources: Expert Review Green,Other Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH1 were set to 27566442; 28301459 Phenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC