Search results
Results From The WOW.Com Content Network
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. [2] In newborns, symptoms include weak muscles, poor feeding, and slow development. [2] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. [2]
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
Prader–Willi (PWS) and Angelman syndrome (AS) are distinct neurogenetic disorders caused by chromosomal deletions, uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS depends on if there is a lack of the paternally expressed gene to contribute to the region.
The following is a list of genetic disorders and if known, ... Prader–Willi syndrome: 15q DCP Scheuermann's disease: 1q21-q22 or 7q22 Sickle cell disease: 11p P
"Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy and Prader-Willi syndrome," read the Angelman Syndrome Foundation website. "People with ...
People normally have two copies of this chromosome in each cell, one copy from each parent. Prader–Willi syndrome occurs when the paternal copy is partly or entirely missing. In about 70% of cases, [citation needed] Prader–Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. The genes in this region are ...
Potocki–Shaffer syndrome; Potter sequence; Prader–Willi syndrome; Pre-excitation syndrome; Precordial catch syndrome; Premenstrual syndrome; Presumed ocular histoplasmosis syndrome; Pretzel syndrome; Primary pigmented nodular adrenocortical disease; Primrose syndrome; Progeroid syndromes; Progressive supranuclear palsy; Prolonged grief ...
Sotos syndrome Cerebral Gigantism; ... Prader–Willi syndrome; Proteus syndrome; Prune belly syndrome; R ... List of ICD-9 codes 740–759: congenital anomalies ...