8q12 microduplication syndrome

Orpha code: 228399OMIM code:

Definition

The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).

Disease data
Classification

Malformation syndrome

Synonyms
Dup(8)(q12)
Dup(8)(q12)
Trisomia 8q12
Trisomy 8q12
ORPHA code
228399
OMIM code
-
ICD10 code
Q92.3
ICD11 code
LD41.70

No additional description.

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