non-distal trisomy 9q
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.
MONDO:0016960
partial trisomy of the long arm of chromosome 9
is_a
non-distal duplication 9q
exact
non-distal trisomy type 9q
exact
non-telomeric trisomy 9q
exact