2q32q33 mikrodelesjon
Engelsk navn: 2q32q33 microdeletion syndrome
Engelske synonym: Del(2)(q32),Del(2)(q32q33),Monosomy 2q32,Monosomy 2q32q33
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.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 251019
Klassifiseringsnivå: DisorderICD-10: Q93.5