Distal duplication 6p

Orpha code: 1745OMIM code:

Definition

Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.

Disease data
Classification

Malformation syndrome

Synonyms
Trisomia 6pter
Telomeric duplication 6p
Trisomy 6pter
Dystalna duplikacja 6p
Telomerowa duplikacja 6p
Distal trisomy 6p
ORPHA code
1745
OMIM code
-
ICD10 code
Q92.3
ICD11 code
LD41.51

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl