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1q44 microdeletion syndrome

Disease Export to PDF
Name:
1q44 microdeletion syndrome
Description:
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
ORPHAcode:
238769
Synonyms:
Del(1)(q44)
Monosomy 1q44
XREF(s):
Orphanet
ICD-10
Analyte(s):
HNRNPU
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14