Search Ontology:
Human Disease

Renpenning syndrome

Term ID
DOID:0060179
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
Ontology
Human Disease   ( DOID:0060179 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models