Syndromic microphthalmia due to orthodenticle homeobox 2 mutation

disorder

SNOMED 718761007CUI C1864690

Overview

Syndromic microphthalmia due to orthodenticle homeobox 2 mutation 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.

Cleft of palate

Occasional (5-29%)HP:0000175

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased body height

Occasional (5-29%)HP:0004322

Ectopic neurohypophysis

Occasional (5-29%)HP:0011755

Short penis

Occasional (5-29%)HP:0000054

Abnormally small eyeball

HP:0000568

Absence of eyeballs

HP:0000528

Breakdown of light-sensitive cells in back of eye

HP:0000556

Decreased corneal diameter

HP:0000482

Double ring sign

HP:0000609

Epilepsy

HP:0001250

Generalised decreased muscle tone

HP:0001290

Joint ligamentous laxity

HP:0001382

Lens opacities

HP:0000518

Muscular hypotonia

HP:0001252

Notched pupil

HP:0000589

Psychomotor development deficiency

HP:0001263

Related Conditions

Autosomal dominant hereditary disorder(parent)

Microphthalmos(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718761007
UMLS CUI: C1864690
Fully Specified Name: Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.