Inverted duplicated chromosome 15 syndrome

Orpha code: 3306OMIM code:

Definition

A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.

Disease data
Classification

Malformation syndrome

Synonyms
Duplication/inversion 15q11
idic(15)
Interstycjalna tetrasomia 15q
Inv dup(15)
Izodicentryczny chromosom 15
Nietelomerowa tetrasomia 15q
Inv dup (15) syndrome
Isodicentric chromosome 15 syndrome
Non-distal tetrasomy 15q
Non-telomeric tetrasomy 15q
idic (15) syndrome
ORPHA code
3306
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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