Condition: Micrognathism


rs1060499548 in ABL1 gene and Micrognathism PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1135401778 in BPTF gene and Micrognathism PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs1554333853 in CDK13 gene and Micrognathism PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs864309486 in GMNN gene and Micrognathism PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

rs1563686762 in RAD21;UTP23 gene and Micrognathism PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.