Ontology highlight
ABSTRACT:
SUBMITTER: Al-Hamed MH
PROVIDER: S-EPMC7565137 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Al-Hamed Mohamed H MH Alsahan Nada N Tulbah Maha M Kurdi Wesam W Ali Wafa'a W Sayer John A JA Imtiaz Faiqa F
Genes 20200820 9
<h4>Background</h4>Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Biallelic pathogenic variants of <i>TMEM94</i> are associated with IDDCDF.<h4>Methods and results</h4>In a prenatal setting, where fetal abnormalities were detected using antenatal sonography ...[more]