Conditions / Genetic
Renpenning syndrome
info · Genetic · ICD-10: Q87.5
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.
Signs and symptoms
- Global developmental delay
- Microcephaly
- Short philtrum
- Narrow face
- Short stature
- Cupped ear
- Cataract
- Intellectual disability
- Poor suck
- Camptodactyly
Also known as: Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked mental retardation syndrome; X-linked intellectual disability due to PQBP1 mutations; X-linked intellectual disability, Renpenning type; X-linked mental retardation Renpenning type