ZFIN Human Disease: female-restricted syndromic X-linked intellectual disability 99

OBO ID: DOID:0112025

Term Name:	female-restricted syndromic X-linked intellectual disability 99		Search Ontology:
Synonyms:	female-restricted syndromic X-linked mental retardation 99 MRXS99F X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Definition:	A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. https://pubmed.ncbi.nlm.nih.gov/26833328/
References:	GARD:13638 OMIM:300968
Ontology:	Human Disease ( DOID:0112025 )

Relationships

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

OTHER female-restricted syndromic X-linked intellectual disability 99 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
USP9X	usp9	Intellectual developmental disorder, X-linked 99, syndromic, female-restricted	300968
USP9Y	usp9	Intellectual developmental disorder, X-linked 99, syndromic, female-restricted	300968

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None