Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

disorder

SNOMED 776204008CUI C4755253

Overview

Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability 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.

Cataract

Frequent (30-79%)HP:0000518

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Hole in the back of the eye

Frequent (30-79%)HP:0000480

Hypogenitalism

Frequent (30-79%)HP:0003241

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Nanophthalmos

Frequent (30-79%)HP:0000568

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Obesity

Frequent (30-79%)HP:0001513

Poor school performance

Frequent (30-79%)HP:0001249

Cryptorchidism

Occasional (5-29%)HP:0000028

Fluid-filled sac located in membrane surrounding brain or spinal cord

Occasional (5-29%)HP:0100702

Gynaecomastia

Occasional (5-29%)HP:0000771

Mental retardation, borderline

Occasional (5-29%)HP:0006889

Rod-cone dystrophy

Occasional (5-29%)HP:0000510

Related Conditions

Hereditary disorder of the visual system(parent)

Autosomal dominant hereditary disorder(parent)

Colobomatous microphthalmia(parent)

Hereditary disorder of endocrine system(parent)

Centripetal obesity(parent)

Reproductive system hereditary disorder(parent)

Congenital anomaly of endocrine gonad(parent)

Multiple system malformation syndrome(parent)

Developmental hereditary disorder(parent)

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 776204008
UMLS CUI: C4755253
Fully Specified Name: Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.