chromosome 9p deletion syndrome
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:0016874
partial deletion of chromosome 9
is_a
9p deletion
exact
9p deletion syndrome
exact
9p monosomy
exact
9p- syndrome
exact
Alfi syndrome
exact
chromosome 9p deletion
exact
deletion 9p
exact
monosomy 9p
exact
monosomy 9p syndrome
exact
monosomy type 9p
exact
partial deletion of chromosome 9p
exact
partial deletion of the short arm of chromosome 9
exact
partial deletion of the short arm of chromosome type 9
exact
partial monosomy 9p
exact
partial monosomy of chromosome 9p
exact
partial monosomy of the short arm of chromosome 9
exact