2p13.2 microdeletion syndrome

MONDO:0018207

2p13.2 microdeletion syndrome is 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.

Also known as: Del(2)(p13.2)

0 clinical trials for this condition and its sub-types, 0 tagged with 2p13.2 microdeletion syndrome itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Partial deletion of the short arm of chromosome 2 (0)

Including sub-types (0) Tagged with 2p13.2 microdeletion syndrome (0)

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