You are using an outdated browser. Please upgrade your browser to improve your experience.

Renpenning syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.
Uniprot Description A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies.
Disease Ontology 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.
Mondo Term and Equivalent IDs
MONDO:0010653:  Renpenning syndrome
GARD:0009509: 
MESH:C537761: 
Orphanet:3242: 
SCTID:699669001: 
UMLS:C0796135: