Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome

disorder

SNOMED 715628009CUI C1857802

Overview

Intellectual disability, truncal obesity, retinal dystrophy and micropenis 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.

Truncal obesity apparent in childhood

Always present (100%)HP:0008915

Impaired vision

Very frequent (80-99%)HP:0000505

Short penis

Very frequent (80-99%)HP:0000054

Speech delay

Very frequent (80-99%)HP:0000750

Truncal obesity

Very frequent (80-99%)HP:0001956

Aggression

Frequent (30-79%)HP:0000718

Breakdown of light-sensitive cells in back of eye

Frequent (30-79%)HP:0000556

Cataract

Frequent (30-79%)HP:0000518

Difficulty speaking

Frequent (30-79%)HP:0002465

Hyperactive behaviour

Frequent (30-79%)HP:0000752

Mental retardation, mild

Frequent (30-79%)HP:0001256

Mental retardation, severe

Frequent (30-79%)HP:0010864

Moderate mental retardation

Frequent (30-79%)HP:0002342

Progressive night blindness

Frequent (30-79%)HP:0007675

Retinal atrophy

Frequent (30-79%)HP:0001105

Renal anomalies

Occasional (5-29%)HP:0000077

Central hypotonia

Excluded (<1%)HP:0001252

Decreased visual acuity

HP:0007663

Involuntary muscle stiffness, contraction, or spasm

Excluded (<1%)HP:0001257

Night blindness

HP:0000662

Related Conditions

Congenital hypoplasia of penis(parent)

Hereditary retinal dystrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Centripetal obesity(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 715628009
UMLS CUI: C1857802
Fully Specified Name: Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.