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8p23.1 microdeletion syndrome

Disease Export to PDF
Name:
8p23.1 microdeletion syndrome
Description:
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
ORPHAcode:
251071
Synonyms:
Del(8)(p23.1)
Monosomy 8p23.1
XREF(s):
Orphanet
ICD-10
Analyte(s):
GATA4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14