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Monosomy 9q22.3

Disease Export to PDF
Name:
Monosomy 9q22.3
Description:
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
ORPHAcode:
77301
Synonyms:
Microdeletion 9q22.3
XREF(s):
Orphanet
ICD-10
Analyte(s):
PTCH1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14