ZFIN Human Disease: KINSSHIP syndrome

OBO ID: DOID:0112383

Term Name:	KINSSHIP syndrome		Search Ontology:
Synonyms:	AFF3-related mesomelic dysplasia KINS Steichen-Gersdorf type mesomelic dysplasia
Definition:	A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (2)
References:	OMIM:619297
Ontology:	Human Disease ( DOID:0112383 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER KINSSHIP syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AFF3	aff3	KINSSHIP syndrome	619297

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None