Chromosome 22q11.2 Deletion Syndrome, Distal (VCFS)

Alias:

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/bbb Syndrome

Conotruncal Anomaly Face Syndrome

Cayler Cardiofacial Syndrome

Velocardiofacial Syndrome

Shprintzen Syndrome

Sedlackova Syndrome

Digeorge Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2 Distal Deletion Syndrome

Velo-Cardio-Facial Syndrome

Microdeletion 22q11.2

Digeorge Sequence

Monosomy 22q11

Takao Syndrome

22q11.2ds

Catch 22

22q11ds

Catch22

Chromosome Deletion Syndrome 22q11.2, Distal

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Deletion 22q11.2 Syndrome

Distal Monosomy 22q11.2

Distal Del(22)(q11.2)

Catch 22 Syndrome

Vcfs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chromosome 22q11.2 Deletion Syndrome, Distal, also known as 22q11.2 deletion syndrome, is related to digeorge syndrome and velocardiofacial syndrome. An important gene associated with Chromosome 22q11.2 Deletion Syndrome, Distal is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. The drugs Fluoxetine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include kidney and heart, and related phenotypes are intellectual disability and aphasia

Related ID：

MALACARDS：CHR346

OMIM：611867

MESH：C567511