Paternal 20q13.2q13.3 microdeletion syndrome
ORPHA:261304· ICD-10 Q93.5
Definition
Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal