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CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.
ADNP syndrome is caused by non-inherited mutations in the ADNP gene. [10] Spanning about 40 kb of DNA, the ADNP gene maps to the chromosomal position chr20q13.13 in the human genome. [ 9 ] The protein produced from this gene helps control the activity ( expression ) of other genes through a process called chromatin remodeling .
These disorders comprise developmental language disorder, learning disorders, developmental coordination disorders, and autism spectrum disorders (ASD). [2] In broader definitions, attention deficit hyperactivity disorder (ADHD) is included, and the term used is neurodevelopmental disorders . [ 1 ]
HNRNPH2-related disorder is considered as a neurodevelopmental disorder (NDD) caused by heterozygous mutation in the HNRNPH2 gene on the chromosome Xq22. [ 1 ] [ 2 ] This gene (GenBank: NM_019597.4) [ 3 ] encodes a member of a family of ubiquitous heterogeneous nuclear ribonucleoproteins (HNRNP).
GRIN disorders (also GRIN-related disorders) are a group of neurodevelopmental disorders that result from mutations in genes coding for subunits of an N-methyl-D-aspartate (NMDA) receptor, which leads to dysfunction of glutamate signaling.
RNU4-2 / ReNU syndrome is one of the most prevalent monogenic neurodevelopmental disorders, with variants in RNU4-2 estimated to account for around 0.4% of all neurodevelopmental disorders. [2] The syndrome is an autosomal dominant genetic disorder caused by de novo variants in RNU4-2 , a gene on chromosome 12 , which encodes the small nuclear ...
Neurodevelopmental disorders are a group of mental conditions affecting the development of the nervous system, which includes the brain and spinal cord.According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, published in 2013, these conditions generally appear in early childhood, usually before children start school, and can ...
As of 2022, there is one clinical trial in clinicaltrials.gov, to test if phenylbutyrate is safe and well tolerated in children with STXBP1 encephalopathy and SLC6A1 neurodevelopmental disorder. Pre-clinical and experimental work on a gene replacement therapy is currently underway, aiming to produce a custom adeno-associated virus (AAV ...