chromosome 17q12 deletion syndrome
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.
MONDO:0016915
partial deletion of the long arm of chromosome 17
is_a
17q12 deletion syndrome
related
17q12 microdeletion syndrome
exact
17q12 recurrent deletion syndrome
related
Del(17)(q12)
exact
chromosome 17q12 deletion syndrome
exact
monosomy 17q12
exact