2p21 microdeletion syndrome

Disease Export to PDF
Name:
2p21 microdeletion syndrome
Description:
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.
ORPHAcode:
163693
Synonyms:
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14