2p13.2 microdeletion syndrome

Engelsk navn: 2p13.2 microdeletion syndrome
Engelske synonym: Del(2)(p13.2)


A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.

Fra Orphanet

ORPHA: 363680
Klassifiseringsnivå: Disorder
ICD-10: Q93.5

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