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Speech delay
- ... condition is characterized by intellectual disability, developmental delay, speech delay, and distinctive facial features.Most CHD3 gene mutations change single protein building blocks (amino acids) in the CHD3 protein. The majority of mutations ... syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9( ...
- ... been associated with weak muscle tone (hypotonia), developmental delays, delayed speech, seizures, and brain abnormalities. 14-3-3 epsilon ...
- ... birth. Affected individuals often have intellectual disability, developmental delay, impaired speech, sleep problems, distinctive facial features, and mild hand ...
- ... protein is thought to contribute to the developmental delay, intellectual disability, and absent or severely delayed speech characteristic of people with 22q13.3 deletion syndrome. ...
- ... been found to cause microcephaly, seizures, and developmental delay (MCSZ). This ... of speech and motor skills. Rarely, affected individuals also have ...
- ... characterized by severely delayed or impaired development of speech and walking, ... delay, hypotonia, and other neurological problems in people with ...
- ... gene have been associated with hearing loss and speech problems without other ... disabilities, and craniofacial abnormalities. While these features ...
- ... signaling in regions of the brain involved in speech and language and disrupt brain ... and developmental delay. Some people with mutations in chromosome 16 that ...
- ... of the immune system (immunodeficiency), delayed development of speech and motor skills, and ... immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867- ...
- ... prevents normal brain development, leading to intellectual disability, speech problems, and other ... with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. ...
