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Neurodevelopmental disorder with hypotonia brain abnormalities
- ... or a thin upper lip. Other, less-common abnormalities involving the bones and skin include premature fusion of certain skull bones (craniosynostosis), unusually loose (lax) joints, and loose skin.Neurodevelopmental disorders can also occur in Xia-Gibbs syndrome. Some ...
- ... at position q23.1 can cause MBD5-associated neurodevelopmental disorder ... and foot abnormalities. Most people with MAND also have features similar ...
- Rett syndrome is a neurodevelopmental disorder characterized by typical early ... seizures, cognitive problems, digestive problems, and other symptoms.
- ... half are unable to walk. Weak muscle tone (hypotonia) and difficulty feeding occur in some affected infants. People with cerebro-facio-thoracic dysplasia can have neurodevelopmental problems, such as anxiety, autism spectrum disorder, or self-injuring behavior; however, many people with ...
- ... Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. ... Associated With Microdeletions and Microduplications of Chromosome 17p13. ...
- ... About This Health Condition In a few cases, ... near the center of the brain. In each case, the affected individual had extra ...
- ... contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol ... Neurodevelopmental Disorder (MAND). Eur J Hum Genet. 2016 Aug;24( ...
- ... genes, resulting in the facial, dental, and neurological abnormalities in Timothy syndrome.Other variants in ... This condition is considered to have an ...
- ... disability. They also have an increased risk of neurodevelopmental or psychiatric ... recurrent ear infections, an unusually small head (microcephaly), ...
- ... people with Snijders Blok-Campeau syndrome have brain abnormalities, such as enlarged ... The prevalence of Snijders Blok-Campeau syndrome is ...