Xq27.3q28 duplication syndrome

Orpha code: 261483OMIM code: 300869

Definition

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Dup(X)(q27.3q28)
Dup(X)(q27.3q28)
Trisomia Xq27.3q28
Trisomia Xq27.3-q28
Zespół mikroduplikacji Xq27.3-q28
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome
ORPHA code
261483
OMIM code
300869
ICD10 code
Q99.8
ICD11 code
LD51

No additional description.

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