ZFIN Human Disease: Renpenning syndrome

OBO ID: DOID:0060179

Term Name:	Renpenning syndrome		Search Ontology:
Synonyms:	Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome syndromic X-linked mental retardation 8 X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia
Definition:	An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. http://en.wikipedia.org/wiki/Renpenning%27s_syndrome
References:	ICD10CM:Q87.5 OMIM:309500 ORDO:3242
Ontology:	Human Disease ( DOID:0060179 )

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 Renpenning syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PQBP1	pqbp1	Renpenning syndrome	309500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None