A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinitis pigmentosa and multiple congenital malformations.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D003398:Craniosynostoses / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome