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


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