ZFIN Human Disease: X-linked intellectual disability-short stature-overweight syndrome

OBO ID: DOID:0112056

Term Name:	X-linked intellectual disability-short stature-overweight syndrome		Search Ontology:
Synonyms:	MRX12 MRX35 X-linked mental retardation 12 X-linked mental retardation 35
Definition:	A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. https://pubmed.ncbi.nlm.nih.gov/26166480/
References:	OMIM:300957 ORDO:457240
Ontology:	Human Disease ( DOID:0112056 )

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 X-linked intellectual disability-short stature-overweight syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
THOC2	thoc2	Intellectual developmental disorder, X-linked 12	300957

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None