14q11.2 microdeletion syndrome

Orpha code: 261120OMIM code: 613457

Definition

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Del(14)(q11.2)
Del(14)(q11.2)
Monosomia 14q11.2
Monosomy 14q11.2
ORPHA code
261120
OMIM code
613457
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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