2q32q33 mikrodelesjon
Engelsk navn: 2q32q33 microdeletion syndrome
Engelske synonym: Del(2)(q32),Del(2)(q32q33),Monosomy 2q32,Monosomy 2q32q33
Definisjon
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.
Fra Orphanet
ORPHA: 251019
Klassifiseringsnivå: Disorder
ICD-10: Q93.5