Xq12-q13.3 duplication syndrome

Orpha code: 314389OMIM code:

Definition

Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.

Disease data
Classification

Malformation syndrome

Synonyms
Dup(X)(q12-q13.3)
Dup(X)(q12-q13.3)
ORPHA code
314389
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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