ZFIN Human Disease: Rafiq syndrome

OBO ID: DOID:0081097

Term Name:	Rafiq syndrome		Search Ontology:
Synonyms:
Definition:	An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/29908352/
References:	OMIM:614202
Ontology:	Human Disease ( DOID:0081097 )

Relationships

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

OTHER Rafiq syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MAN1B1	man1b1a man1b1b	Rafiq syndrome	614202

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None