1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder
Definition
- 1p21.3 microdeletion syndrome is a rare chromosomal anomaly characterized by:
- Severe speech and language delay.
- Borderline to mild-moderate intellectual deficiency.
- Autism spectrum disorder (ASD) features.
- Minor dysmorphic facial features.
Classification
- Orpha Code: ORPHA:293948
- ICD-10 Code: Q93.5
- ICD-11 Code: LD44.11
- UMLS: C4304578
- Synonyms:
- Del(1)(p21.3)
- Monosomy 1p21.3
Epidemiology