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

(all 7)

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
• MIM:309500
• ORDO:3242

Ontology

Human Disease   ( DOID:0060179 )