tetrasomy 9p
Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).
MONDO:0700043
syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
is_a
Chromosome 9, Tetrasomy 9p
exact
Isochromosome 9p
exact
Mosaic tetrasomy 9p
related
chromosome 9p tetrasomy
related
tetrasomy of short arm of chromosome 9
related
tetrasomy type 9p
exact