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13q12.3 microdeletion syndrome
rare13q12.3 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.
- Identifiers
- MONDO:0018474 Orphanet:412035
- Part of
- Epidermal diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial deletion of the long arm of chromosome 13
- Also known as
- Del(13)(q12.3) · monosomy 13q12.3
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