chromosome 13q14 deletion syndrome
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0016911
partial deletion of the long arm of chromosome 13
is_a
Del(13)(q14)
exact
chromosome 13q14 deletion syndrome
exact
chromosome 13q14 deletion syndrome, isolated cases
exact
del(13q14)
exact
deletion 13q14
exact
monosomy type 13q14
exact