Ontology highlight
ABSTRACT:
SUBMITTER: Qiao F
PROVIDER: S-EPMC6877748 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Frontiers in genetics 20191119
Autosomal dominant mental retardation-7 (MRD7) is a rare anomaly, characterized by severe intellectual disability, feeding difficulties, behavior abnormalities, and distinctive facial features, including microcephaly, deep-set eyes, large simple ears, and a pointed or bulbous nasal tip. Some studies show that the disorder has a close correlation with variants in <i>DYRK1A</i>. Herein we described a Chinese girl presenting typical clinical features diagnosed at 4 years old. Whole-exome sequencing ...[more]