Clinical Trials
1
Total Trials
0
Recruiting
0
With Results
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dehydration
Very frequent (80-99%)HP:0001944
Glucose in urine
Very frequent (80-99%)HP:0003076
Hyperglycemia
Very frequent (80-99%)HP:0003074
Hypovolemia
Very frequent (80-99%)HP:0011106
Neonatal insulin-dependent diabetes mellitus
Very frequent (80-99%)HP:0000857
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Reduced pancreatic beta cells
Very frequent (80-99%)HP:0006274
Weight loss
Very frequent (80-99%)HP:0001824
Arthrogryposis multiplex
Frequent (30-79%)HP:0002804
Bilateral ptosis
Frequent (30-79%)HP:0001488
Cardiac anomaly
Frequent (30-79%)HP:0001627
Contractures of the joints of the lower limbs
Frequent (30-79%)HP:0005750
Delayed motor milestones
Frequent (30-79%)HP:0001270
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Ketonaciduria
Frequent (30-79%)HP:0002919
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental deficiency
Frequent (30-79%)HP:0001249
Microalbuminuria
Frequent (30-79%)HP:0012594
Myoclonic epilepsy, progressive
Frequent (30-79%)HP:0002123
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Noninflammatory retina disease
Frequent (30-79%)HP:0000488
Prominent frontal suture
Frequent (30-79%)HP:0005487
Abnormality of the upper urinary tract
Occasional (5-29%)HP:0010935
Apraxia
Occasional (5-29%)HP:0002186
Ataxia
Occasional (5-29%)HP:0001251
Hypoacusis
Occasional (5-29%)HP:0000365
Hypoplastic pancreas
Occasional (5-29%)HP:0002594
Mental retardation, severe
Occasional (5-29%)HP:0010864
Quick Facts
- SNOMED CT
- 609565001
- UMLS CUI
- C1833104
- Fully Specified Name
- Permanent neonatal diabetes mellitus (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Clinical Trials
- 1
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.