13q12.3 mikrodelesjon
Engelsk navn: 13q12.3 microdeletion syndrome
Engelske synonym: Del(13)(q12.3),Monosomy 13q12.3
Definisjon
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
Fra Orphanet
ORPHA: 412035
Klassifiseringsnivå: Disorder
ICD-10: Q93.5
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
