<unk> 's major clinical features include physical disability, usually mild; hyperactive behavior, often with a slow personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, "open-mouthed" expression, a thin upper lip, a full or pouting upper lip; and most or complete loss of the corpus callosum. About a third of reported cases of individuals with<unk>  die in infancy, usually due to respiratory infection; premature death is rare after infancy. Developmental effects Associated with agenesis (absence) of the corpus callosum, intellectual disabilities are common among individuals with<unk> . Motor ability is also impaired as a result of<unk> , and it also affects the development of semen. During childhood, problems arise in the gastrointestinal and gastroesophageal systems of the body. The most common gastrointestinal problems include constipation from an imperforate anus and gastroesophageal reflux. Cardiopulmonary defects contribute to roughly 60% of premature deaths in infants with<unk> . Septal defects are the most common. After infancy, long-term survival has been recorded beyond the age of 50.
FG syndrome
Gitelman syndrome
Mungan syndrome
Muir–Torre syndrome
Sly syndrome
Perlman syndrome
MORM syndrome
Angelman syndrome