| syndroom van grote lengte, verstandelijke handicap en congenitale afwijking van aangezicht
syndroom van grote lengte, mentale retardatie en faciale dysmorfie
Tatton-Brown-Rahman-syndroom
TBRS
DNA-methyltransferase-3-alfa-gerelateerd overgroeisyndroom
overgroeisyndroom van Tatton-Brown-Rahman
DNMT3A-gerelateerd overgroeisyndroom
syndroom van Tatton-Brown-Rahman
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| A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. |
