AP1B1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AP1B1 in Ichthyosis Level 2: Dermatological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability enteropathy deafness ichthyosis keratoderma
Green AP1B1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150
Green AP1B1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150 Intellectual disability enteropathy deafness ichthyosis keratoderma
Green AP1B1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability enteropathy deafness ichthyosis keratoderma
Amber AP1B1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150

5 panels