ZFIN Human Disease: GAND syndrome

OBO ID: DOID:0070048

Term Name:	GAND syndrome		Search Ontology:
Synonyms:	autosomal dominant intellectual developmental disorder 18 autosomal dominant mental retardation 18 autosomal dominant non-syndromic intellectual disability 18 MRD18
Definition:	An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. (2)
References:	OMIM:615074
Ontology:	Human Disease ( DOID:0070048 )

Relationships

is a type of:	autosomal dominant intellectual developmental disorder autosomal dominant intellectual developmental disorder Show first 5 Terms

OTHER GAND syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GATAD2B	gatad2b	GAND syndrome	615074

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None