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permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

MeSH: C563796ORPHA: 65288

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, sourced from HPO and Orphanet clinical annotations.

Triangular faceShort chinLow-set earsOptic nerve hypoplasiaNeonatal insulin-dependent diabetes mellitusCerebellar hypoplasiaAplasia/Hypoplasia of the pancreas

Classification & Codes

MeSH Code

C563796

Orphanet Code

ORPHA:65288
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
MeSHC563796
OrphanetORPHA:65288
Treatments0 drug(s)
Symptoms on record7 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO