Developmental delay, epilepsy, neonatal diabetes syndrome

disorder

SNOMED 721088003CUI C4303593

Overview

Developmental delay, epilepsy, neonatal diabetes syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Hyperglycemia

Always present (100%)HP:0003074

Elevated glycated haemoglobin

Very frequent (80-99%)HP:0040217

Epilepsy

Frequent (30-79%)HP:0001250

Global developmental delay, mild

Frequent (30-79%)HP:0011342

Muscle weakness

Frequent (30-79%)HP:0001324

Truncal hypotonia

Frequent (30-79%)HP:0008936

Bilateral ptosis

Occasional (5-29%)HP:0001488

Curvature of ring finger

Occasional (5-29%)HP:0040025

Dehydration

Occasional (5-29%)HP:0001944

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Increased length of philtrum

Occasional (5-29%)HP:0000343

Nasal hypoplasia

Occasional (5-29%)HP:0003196

Nostrils anteverted

Occasional (5-29%)HP:0000463

Peripheral neuropathy

Occasional (5-29%)HP:0009830

Prominent frontal suture

Occasional (5-29%)HP:0005487

Thickened ears

Occasional (5-29%)HP:0009894

Vomiting

Occasional (5-29%)HP:0002013

Related Conditions

Neonatal diabetes mellitus(parent)

Epilepsy(parent)

Developmental delay(parent)

Neonatal metabolic disorder(parent)

Neonatal disorder of endocrine system(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 721088003
UMLS CUI: C4303593
Fully Specified Name: Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.