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2q32q33 microdeletion syndrome

Disease Export to PDF
Name:
2q32q33 microdeletion syndrome
Description:
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.
ORPHAcode:
251019
Synonyms:
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32q33
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
SATB2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14