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Microphthalmia with ankyloblepharon and intellectual disability syndrome

disorder
SNOMED 717222003CUI C1844948

Overview

Microphthalmia with ankyloblepharon and 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.

Absence of eyeballs
Very frequent (80-99%)HP:0000528
Adhesion of eyelids
Very frequent (80-99%)HP:0009755
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Nanophthalmos
Very frequent (80-99%)HP:0000568

Related Conditions

Microphthalmos(parent)
Congenital ankyloblepharon(parent)
Hereditary disorder of the visual system(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
717222003
UMLS CUI
C1844948
Fully Specified Name
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
4
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.