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Up to: Epidermal disease · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Partial deletion of the long arm of chromosome 13
13q12.3 microdeletion syndrome
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.
This condition has no sub-types.