13q12.3 microdeletion syndrome

MONDO:0018474

13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.

Also known as: Del(13)(q12.3), monosomy 13q12.3

0 clinical trials for this condition and its sub-types, 0 tagged with 13q12.3 microdeletion syndrome itself.

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↑ Epidermal disease (131) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Partial deletion of the long arm of chromosome 13 (0)

Including sub-types (0) Tagged with 13q12.3 microdeletion syndrome (0)

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