Stickler Syndrome
Gene: PLOD3
Complex phenotype that includes features of a Stickler-like syndrome.
High myopia described in 3/5 described unrelated families
One description of retinal detachment
Facial dysmorphism with midface hypoplasia, microretrognathia
Other features include developmental delay and sensorineural hearing loss
Sources: LiteratureCreated: 18 Mar 2020, 4:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
Publications
Phenotypes for gene: PLOD3 were changed from Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia to Lysyl hydroxylase 3 deficiency, MIM#612394; Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia
Gene: plod3 has been classified as Green List (High Evidence).
Gene: plod3 has been classified as Green List (High Evidence).
gene: PLOD3 was added gene: PLOD3 was added to Stickler Syndrome. Sources: Literature Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to 18834968; 30237576; 30463024; 31129566 Phenotypes for gene: PLOD3 were set to Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia Penetrance for gene: PLOD3 were set to unknown Review for gene: PLOD3 was set to GREEN