Trisomy 18p

Orpha code: 1715OMIM code:

Definition

A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.

Disease data
Classification

Malformation syndrome

Synonyms
Duplication 18p
Duplikacja 18p
Duplikacja krótkiego ramienia chromosomu 19
Trisomia krótkiego ramienia chromosomu 18
Duplication of the short arm of chromosome 18
Trisomy of the short arm of chromosome 18
ORPHA code
1715
OMIM code
-
ICD10 code
Q92.2
ICD11 code
LD41.H1

No additional description.

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