A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities, and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac, and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).

Synonyms: YY1 haploinsufficiency syndrome

This is just here as a test because I lose it

Term information

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358

hasDbXref

OMIM:617557

has age of onset

http://www.orpha.net/ORDO/Orphanet_409944

http://www.orpha.net/ORDO/Orphanet_409943

has point prevalence range

http://www.orpha.net/ORDO/Orphanet_409979

notation

ORPHA:506358

part of

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_611327

present in

http://www.orpha.net/ORDO/Orphanet_409991