Autosomal Dominant Non-Syndromic Intellectual Disability Type 7
Presentation
Entire Body System
- Epilepsy
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet. 2012;49:731–6. [PubMed: 23099646] Deciphering Developmental Disorders Study Group. [ncbi.nlm.nih.gov]
- Developmental Delay
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay. Sci Rep. 2020;10:9849. [PMC free article: PMC7299959] [PubMed: 32555303] Luco SM, Pohl D, Sell E, Wagner JD, Dyment DA, Daoud H. [ncbi.nlm.nih.gov]
- Disability
A de novo mutation in DYRK1A causes syndromic intellectual disability: a Chinese case report. Front Genet. 2019;10:1194. [ncbi.nlm.nih.gov]