17q12 mikroduplikasjon
Engelsk navn: 17q12 microduplication syndrome
Engelske synonym: Dup(17)(q12),Trisomy 17q12
Definisjon
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
Fra Orphanet
ORPHA: 261272
Klassifiseringsnivå: Disorder
ICD-10: Q92.3
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
