Structural eye disease
Gene: SLC4A11
FC- Congenital corneal dystrophy: can it be considered an ASD phenotype? If so, example of segregating variants can be found in PMID: 23922488;27057589;26286922Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Corneal endothelial dystrophy and perceptive deafness; Corneal endothelial dystrophy 2, autosomal recessive; Corneal dystrophy, Fuchs endothelial, 4; 217400; 217700; 613268
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC- Congenital corneal dystrophy: can it be considered an ASD phenotype? If so, example of segregating variants can be found in PMID: 23922488;27057589;26286922Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Corneal endothelial dystrophy and perceptive deafness; Corneal endothelial dystrophy 2, autosomal recessive; Corneal dystrophy, Fuchs endothelial, 4; 217400; 217700; 613268
gene: SLC4A11 was added gene: SLC4A11 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy and perceptive deafness, 217400; Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy 2, autosomal recessive, 217700