RECQL

Panel	Reviews	Mode of inheritance	Details
Amber RECQL in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Photosensitivity facial dysmorphism xeropthalmia skeletal abnormalities
Amber RECQL in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Photosensitivity facial dysmorphism xeropthalmia skeletal abnormalities

Panel

Reviews

Mode of inheritance

Details

Version 1.2374

review

BIALLELIC, autosomal or pseudoautosomal

Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review

BIALLELIC, autosomal or pseudoautosomal

2 panels