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

• ICD10CM:Q87.5
• OMIM:309500
• ORDO:3242

Ontology

Human Disease   ( DOID:0060179 )