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chromosome 9p deletion syndrome

Disease Summary
Associated Targets ()

Mondo Description Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Mondo Term and Equivalent IDs
MONDO:0008013:  chromosome 9p deletion syndrome
GARD:0003773: 
MESH:C538024: 
Orphanet:261112: 
SCTID:62599000: