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Growth abnormality
- ... important processes involved in skeletal development and cell growth, leading to the bone and skin abnormalities characteristic of terminal osseous dysplasia. FLNA Terminal osseous ...
- ... soon after birth. Affected females have excessive bone growth (hyperostosis), which leads to multiple skeletal abnormalities including an unusually large head (macrocephaly) and abnormal ...
- ... mutations are not fully understood, they lead to abnormalities in the growth, division, and maturation of cells in the hair ...
- ... are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by ...
- ... early stages of development before birth. Other brain abnormalities, including the growth of large cysts in brain tissue, have also ...
- ... immune dysregulation (SPENCDI). This condition is characterized by abnormalities in bone growth and immune system function. The ACP5 gene mutations ...
- ... of folds and grooves. In most cases, these abnormalities impair brain growth, causing the brain to be smaller than normal ( ...
- ... syndrome, which is characterized by limb and facial abnormalities and slow growth before and after birth. These mutations prevent the ...
- ... of copies of chromosome 7 can cause delayed growth and development, intellectual disabilities, distinctive facial features, skeletal abnormalities, delayed speech, and other health problems. Changes in ...
- ... on health and development, including intellectual disability, slow growth, characteristic facial features, weak muscle tone (hypotonia), and abnormalities of the fingers and toes. Changes in chromosome ...