22q11.2 deletion syndrome
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
MONDO:0015246
obsolete syndromic anorectal malformation (obsolete MONDO:0015246)
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0005046
immune system disorder
is_a
MONDO:0005267
heart disorder
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0022760
chromosome 22q deletion
is_a
22q11DS
exact
Cayler cardiofacial syndrome
exact
Chromosome 22q11.2 Deletion Syndrome
exact
DiGeorge sequence
narrow
DiGeorge syndrome
narrow
Sedlackova syndrome
exact
Shprintzen syndrome
exact
Takao syndrome
exact
VCFS
related
catch 22
exact
conotruncal anomaly face syndrome
exact
microdeletion 22q11.2
exact
monosomy 22q11
exact