2p13.2 microdeletion syndrome
MONDO:00182072p13.2 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.
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Disease
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Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Autosomal anomaly
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Chromosome 2 disorder
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Disease by developmental or physiological process
(0)
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