ZFIN Human Disease: syndromic X-linked intellectual disability Siderius type

OBO ID: DOID:0060812

Term Name:	syndromic X-linked intellectual disability Siderius type		Search Ontology:
Synonyms:	mental retardation syndrome, X-linked, Siderius type MRXSSD Siderius X-linked mental retardation syndrome Siderius-Hamel syndrome
Definition:	A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (2)
References:	MESH:C537333 OMIM:300263 ORDO:85287 UMLS_CUI:C1846055
Ontology:	Human Disease ( DOID:0060812 )

Relationships

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

OTHER syndromic X-linked intellectual disability Siderius type PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PHF8	phf8	Intellectual developmental disorder, X-linked syndromic, Siderius type	300263

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None