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

X-linked intellectual disability-retinitis pigmentosa syndrome

Disease Summary
Associated Targets ()

Mondo Description X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Mondo Term and Equivalent IDs
MONDO:0010364:  X-linked intellectual disability-retinitis pigmentosa syndrome
GARD:0008360: 
Orphanet:85332: 
SCTID:719808002: 
UMLS:C0795873: