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DO Term : Renpenning syndrome [DOID:0060179] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • X-linked mental retardation Renpenning type,
  • Golabi-Ito-Hall syndrome,
  • Sutherland-Haan X-linked mental retardation syndrome,
  • X-linked intellectual disability due to PQBP1 mutations,
  • OMIM:309500,
  • ORDO:3242,
  • 309500,
  • X-linked mental retardation with spastic diplegia,
  • syndromic X-linked mental retardation 8,
  • ICD10CM:Q87.5,
  • X-linked intellectual disability, Renpenning type
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents