Hao-Fountain syndrome due to 16p13.2 microdeletion
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.
MONDO:0014805
Hao-Fountain syndrome
is_a
MONDO:0016894
partial deletion of the short arm of chromosome 16
is_a
16p13.2 microdeletion syndrome
exact
Del(16)(p13.2)
exact
chromosome 16P13.2 deletion syndrome
exact
chromosome 16p13.2 deletion syndrome
exact
monosomy 16p13.2
exact