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Delay
- ... with acanthosis nigricans, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). However, in contrast to ... loss, subtle hand and foot abnormalities, and developmental delays. The variant that causes Muenke syndrome substitutes the ...
- ... disease, which causes blindness and sometimes mild developmental delays and problems with other body systems. Individuals missing ... deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus. Brain Dev. ...
- ... sodium channels in skeletal muscle cells. These changes delay the closing of channels made with the SCN4A ... other amino acids at protein position 1448. Variants delay the closing of channels made with the SCN4A ...
- ... with Potocki-Shaffer syndrome include intellectual disability, developmental delay, distinctive facial features, vision problems, and defects in ... encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. Am J Med Genet A. ...
- ... Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which slows growth of ... copies of centrosomes and centrioles, which may also delay cell division. Other studies suggest that changes in ...
- ... impair the function of neurons, leading to developmental delay, hypotonia, and other neurological problems in people with ... syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J ...
- ... with the atypical form have mild to moderate delay in the development of mental and motor skills (psychomotor delay).Deletions of the SLC3A1 gene, the PREPL gene, ...
- ... an unusually small head size (microcephaly), severe developmental delay, and recurrent seizures that are difficult to treat ( ... normal brain development lead to microcephaly, severe developmental delay, and the other signs and symptoms of phosphoglycerate ...
- ... in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. ... 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; ...
- ... This condition is characterized by intellectual disability, developmental delay, speech delay, and distinctive facial features.Most CHD3 gene mutations ...
