ALPK1

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green ALPK1 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ROSAH syndrome, MIM# 614979
Green ALPK1 in Mendeliome Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979
Green ALPK1 in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Green ALPK1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979

4 panels