Xp22.13p22.2 duplication syndrome

Orpha code: 284180OMIM code:

Definition

Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.

Disease data
Classification

Malformation syndrome

Synonyms
Dup(X)(p22)
Dup(X)(p22)
Dup(X)(p22.13p22.2)
Duplikacja Xp22
Dup(X)(p22.13p22.2)
Duplication Xp22
ORPHA code
284180
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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