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Start free with EleplanIsolated permanent neonatal diabetes mellitus
ORPHA:99885Disease
Also called Isolated PNDM
What it is
Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
8Common30–79%
16- Abnormal heart morphology
- Arthrogryposis multiplex congenita
- Bilateral ptosis
- Bilateral tonic-clonic seizure
- Downturned corners of mouth
- Generalized myoclonic seizure
- Global developmental delay
- Intellectual disability
- Intrauterine growth retardation
- Ketonuria
- Lower-limb joint contracture
- Microalbuminuria
- Motor delay
- Neurodevelopmental delay
- Prominent metopic ridge
- Retinopathy
Sometimes5–29%
10- Abnormality of the upper urinary tract
- Apraxia
- Ataxia
- Coma
- Hearing impairment
- Hypotonia
- Intellectual disability, severe
- Pancreatic hypoplasia
and 2 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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