SERKAL syndrome

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:alsoKnownAs gptkb:Sex_reversal,_kidney,_adrenal,_and_lung_dysgenesis_syndrome
gptkbp:characterizedBy sex reversal
adrenal dysgenesis
kidney dysgenesis
lung dysgenesis
gptkbp:firstDescribed 2009
gptkbp:hasGeneticBasis homozygous loss-of-function mutation in WNT4
https://www.w3.org/2000/01/rdf-schema#label SERKAL syndrome
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:WNT4_gene
gptkbp:OMIM 611812
gptkbp:symptom gptkb:46,XX_sex_reversal
adrenal insufficiency
pulmonary hypoplasia
renal agenesis
gptkbp:bfsParent gptkb:WNT4
gptkbp:bfsLayer 7