ZFIN Human Disease: Wilson-Turner syndrome

OBO ID: DOID:0060814

Term Name:	Wilson-Turner syndrome		Search Ontology:
Synonyms:	mental retardation, X-linked, syndromic 6 mental retardation, X-linked, with gynecomastia and obesity MRXS6 WTS X-linked intellectual disability-gynecomastia-obesity syndrome
Definition:	A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (2)
References:	GARD:5579 OMIM:309585 ORDO:3459
Ontology:	Human Disease ( DOID:0060814 )

Relationships

is a type of:	syndromic X-linked intellectual disability X-linked recessive disease syndromic X-linked intellectual disability X-linked recessive disease Show first 5 Terms

OTHER Wilson-Turner syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LAS1L	las1l	Wilson-Turner syndrome	309585

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None