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Autosomal dominant primary microcephaly

disorder
SNOMED 778070003CUI C4755316

Overview

Autosomal dominant primary microcephaly 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.

Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dental agenesis
Very frequent (80-99%)HP:0009804
Alternating esotropia
Frequent (30-79%)HP:0001137
Horizontal nystagmus
Occasional (5-29%)HP:0000666
Protruding ear
Occasional (5-29%)HP:0000411

Quick Facts

SNOMED CT
778070003
UMLS CUI
C4755316
Fully Specified Name
Autosomal dominant primary microcephaly (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
6
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.