chromosome 2q32-q33 deletion syndrome
2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.
MONDO:0016901
partial deletion of the long arm of chromosome 2
is_a
MONDO:0100147
SATB2 associated disorder
is_a
2q32q33 microdeletion syndromes
related
Del(2)(q32)
exact
Del(2)(q32q33)
exact
SAS
related
SATB2 syndrome
related
SATB2-associated syndrome
related
chromosome 2q32-q33 deletion syndrome
exact
glass
related
glass syndrome
exact
monosomy 2q32-q33
exact
monosomy 2q32q33
exact