RPS23

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber RPS23 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Amber RPS23 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Amber RPS23 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Phenotypes Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Amber RPS23 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Brachycephaly, trichomegaly, and developmental delay, MIM# 617412

4 panels