Structural eye disease
Gene: PDE6D
FC: 1 study of a consanguineous family with microphthalmia/coloboma + zebrafish KD model showing microphthalmia, retinal and kidney defects (Thomas et al., 2014 - PMID:24166846)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram); 615665
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC: 1 study of a consanguineous family with microphthalmia/coloboma + zebrafish KD model showing microphthalmia, retinal and kidney defects (Thomas et al., 2014 - PMID:24166846)Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram); 615665
Publications
gene: PDE6D was added gene: PDE6D was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE6D were set to 24166846 Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665