Belgian Genetic Tests database
22q11.2 deletion syndrome
| Name: |
22q11.2 deletion syndrome
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| Description: |
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
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| ORPHAcode: |
567
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| Synonyms: |
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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