A mental retardation syndrome with peripheral dysostosis and pug nose.
D000328:Adult; D001763:Blepharoptosis / Q000150:complications; D001848:Bone Diseases, Developmental / Q000150:complications*; D005149:Facial Expression; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008831:Microcephaly / Q000150:complications; D009128:Muscle Spasticity / Q000150:complications; D009667:Nose Deformities, Acquired / Q000150:complications*; D009759:Nystagmus, Pathologic / Q000150:complications; D012640:Seizures / Q000150:complications; D013249:Sternum / Q000002:abnormalities