ZFIN Human Disease: X-linked intellectual disability-psychosis-macroorchidism syndrome

OBO ID: DOID:0060827

Term Name:	X-linked intellectual disability-psychosis-macroorchidism syndrome		Search Ontology:
Synonyms:	Lindsay-Burn syndrome mental retardation with psychosis, pyramidal signs, and macroorchidism mental retardation, X-linked, syndromic 13 MRXS13 PPM-X X-linked mental retardation 79 X-linked mental retardation with spasticity
Definition:	A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (2)
References:	ICD10CM:F71.1 OMIM:300055 ORDO:3077
Ontology:	Human Disease ( DOID:0060827 )

Relationships

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

OTHER X-linked intellectual disability-psychosis-macroorchidism syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MECP2	mecp2	Intellectual developmental disorder, X-linked syndromic 13	300055

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None