Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...
37 KB (3,950 words) - 06:44, 14 August 2024
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...
38 KB (3,969 words) - 08:02, 20 July 2024
Harry Angelman (13 August 1915 – 8 August 1996) was a British consultant paediatrician who identified and named Angelman syndrome. Angelman was born in...
3 KB (231 words) - 13:58, 18 December 2023
deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome. The chromosomal...
9 KB (1,128 words) - 00:28, 24 May 2023
Chromosome 15 (section Angelman syndrome)
MIR9-3 host gene NIPA2: encoding protein Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 NUSAP1: encoding protein Nucleolar and spindle associated...
34 KB (3,031 words) - 03:36, 10 March 2024
Rett-like syndromes. Pitt-hopkins syndrome is clinically similar to Angelman syndrome, Rett-syndrome, Mowat Wilson syndrome, and ATR-X syndrome. As more...
19 KB (1,874 words) - 05:15, 12 August 2024
Prader–Willi syndrome Angelman syndrome Neurofibromatosis type I Neurofibromatosis type II Williams syndrome Miller–Dieker syndrome Smith–Magenis syndrome Rubinstein–Taybi...
9 KB (930 words) - 05:41, 11 September 2023
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...
77 KB (9,067 words) - 02:40, 18 August 2024
imprinting disorders (e.g. Prader–Willi syndrome, Angelman syndrome, and Beckwith–Wiedemann syndrome), Silver–Russell syndrome may be associated with the use of...
15 KB (1,617 words) - 10:21, 15 July 2024
demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome. The diagnosis of MWS confirmed by demonstrating a pathogenic variant...
9 KB (760 words) - 00:03, 27 February 2024