Early-onset obesity, hyperphagia, severe developmental delay syndrome

disorder

SNOMED 1303867005CUI C3151303

Overview

Early-onset obesity, hyperphagia, severe developmental delay 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.

Central hypotonia

Always present (100%)HP:0001252

Generalized non-motor (absence) seizure

Always present (100%)HP:0002121

Hyperphagia

Always present (100%)HP:0002591

Obesity

Always present (100%)HP:0001513

Repetitive behaviour Stereotypic behaviour

Always present (100%)HP:0000733

Severe psychomotor retardation

Always present (100%)HP:0011344

Delayed myelination

Very rare (1-4%)HP:0012448

Seizures

Very rare (1-4%)HP:0001250

Autism spectrum disorder

HP:0000729

Mental deficiency

HP:0001249

Poor eye contact

HP:0000817

Unbalanced face

HP:0000324

Related Conditions

Global developmental delay(parent)

Severe obesity(parent)

Genetic obesity disorder(parent)

Quick Facts

SNOMED CT: 1303867005
UMLS CUI: C3151303
Fully Specified Name: Early-onset obesity, hyperphagia, severe developmental delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.