Number of the records: 1
syndróm fragilného chromozómu X
Record number d005600 Date 06.06.2025 Type M - MESH Topical term syndróm fragilného chromozómu X Other term English (Pseudonym) FRAXA Syndrome
English (Pseudonym) FRAXE Syndrome
English (Pseudonym) Martin-Bell Syndrome
Slovak (Pseudonym) FRAXA syndróm
Slovak (Pseudonym) FRAXE syndróm
Slovak (Pseudonym) Martinov-Bellov syndróm
See also (Later heading) fragilita chromozómov
(Skutočné meno) fragilita chromozómov
(Skutočné meno) postihnutie intelektuálne
(Skutočné meno) expanzia trinukleotidových repetícií
(Skutočné meno) miesta chromozómov fragilné
(Later heading) expanzia trinukleotidových repetícií
(Later heading) miesta chromozómov fragilné
UDC C10.597.606.360.455.500C16.131.260.830.300C16.320.180.830.300C16.320.322.500.500C16.320.400.525.500 Note A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) 
subject heading
Number of the records: 1