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Ring chromosome 9 syndrome

disorder
SNOMED 60650002CUI C0265430

Overview

Ring chromosome 9 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.

Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Cognitive delay
Frequent (30-79%)HP:0001263
Decreased size of cranium
Frequent (30-79%)HP:0000252
Increased length of philtrum
Frequent (30-79%)HP:0000343
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Poor growth
Frequent (30-79%)HP:0001510
Speech delay
Frequent (30-79%)HP:0000750
Thick eyebrow
Frequent (30-79%)HP:0000574
Undergrowth
Frequent (30-79%)HP:0001508
Central hypotonia
Occasional (5-29%)HP:0001252
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Depigmentation/hyperpigmentation of skin
Occasional (5-29%)HP:0007483
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Lingual protrusion
Occasional (5-29%)HP:0010808
Seizures
Occasional (5-29%)HP:0001250

Quick Facts

SNOMED CT
60650002
UMLS CUI
C0265430
Fully Specified Name
Ring chromosome 9 syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
15
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.

Ring chromosome 9 syndrome — Symptoms, Testing & Specialists | Ltrl