ZFIN Human Disease: non-syndromic X-linked intellectual disability 104

OBO ID: DOID:0112018

Term Name:	non-syndromic X-linked intellectual disability 104		Search Ontology:
Synonyms:	MRX104 X-linked mental retardation 104
Definition:	A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. https://pubmed.ncbi.nlm.nih.gov/25644381/
References:	OMIM:300983
Ontology:	Human Disease ( DOID:0112018 )

Relationships

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

OTHER non-syndromic X-linked intellectual disability 104 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FRMPD4	frmpd4	Intellectual developmental disorder, X-linked 104	300983

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None