1. Diseases
  2. Xq27.3q28 duplication syndrome

Xq27.3q28 duplication syndrome

Disease Export to PDF
Name:
Xq27.3q28 duplication syndrome
Description:
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
ORPHAcode:
261483
Synonyms:
Dup(X)(q27.3q28)
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
FMR1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14