ZFIN Human Disease: syndromic X-linked intellectual disability 14

OBO ID: DOID:0060821

Term Name:	syndromic X-linked intellectual disability 14		Search Ontology:
Synonyms:	mental retardation, X-linked, syndromic 14
Definition:	A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (2)
References:	MESH:C537724 OMIM:300676 ORDO:323 ORDO:776 SNOMEDCT_US_2023_03_01:422437002 UMLS_CUI:C0796022
Ontology:	Human Disease ( DOID:0060821 )

Relationships

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

OTHER syndromic X-linked intellectual disability 14 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UPF3B	upf3b	Intellectual developmental disorder, X-linked syndromic 14	300676

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None