16p13.2 microdeletion syndrome

Orpha code: 500055OMIM code: 616863

Definition

A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.

Disease data
Classification

Malformation syndrome

Synonyms
Del(16)(p13.2)
Del(16)(p13.2)
Monosomia 16p13.2
Monosomy 16p13.2
ORPHA code
500055
OMIM code
616863
ICD10 code
-
ICD11 code
-

No additional description.

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