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Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
rarePermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
- Identifiers
- MONDO:0012192 OMIM:609069Orphanet:65288
- Causal genes
- PTF1A
- Part of
- Central nervous system malformationDevelopmental anomaly of metabolic originHereditary neurological diseaseNeonatal diabetes mellitus
- Also known as
- paca · pancreatic and cerebellar agenesis
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