Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...

occurs in Angelman syndrome, except the defective chromosome 15 is from the mother, or two copies are from the father. Prader–Willi syndrome has no cure...

Harry Angelman (13 August 1915 – 8 August 1996) was a British consultant paediatrician who identified and named Angelman syndrome. Angelman was born in...

MIR9-3 host gene NIPA2: encoding protein Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 NUSAP1: encoding protein Nucleolar and spindle associated...

deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome. The chromosomal...

Rett-like syndromes. Pitt-hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome, Mowat Wilson syndrome, and ATR-X syndrome. As more...

Prader–Willi syndrome Angelman syndrome Neurofibromatosis type I Neurofibromatosis type II Williams syndrome Miller–Dieker syndrome Smith–Magenis syndrome Rubinstein–Taybi...

imprinting disorders (e.g. Prader–Willi syndrome, Angelman syndrome, and Beckwith–Wiedemann syndrome), Silver–Russell syndrome may be associated with the use of...

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing...

demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome. The diagnosis of MWS confirmed by demonstrating a pathogenic variant...