Ring chromosome 14

disorder

SNOMED 702345009CUI C2930916

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Almond shaped eyes

Always present (100%)HP:0007874

Blepharophimosis

Always present (100%)HP:0000581

Complex partial seizures

Always present (100%)HP:0002384

Focal seizures

Always present (100%)HP:0007359

Generalised-onset seizure

Always present (100%)HP:0002197

Mental and motor retardation

Always present (100%)HP:0001263

Retruded nasal dorsum

Always present (100%)HP:0000457

Epilepsy

Very frequent (80-99%)HP:0001250

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Delayed motor milestones

Frequent (30-79%)HP:0001270

Growth delay as children

Frequent (30-79%)HP:0008897

Interictal EEG abnormality

Frequent (30-79%)HP:0025373

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Small for gestational age infant

Frequent (30-79%)HP:0001511

Speech difficulties

Frequent (30-79%)HP:0000750

Susceptibility to infection

Frequent (30-79%)HP:0002719

Abnormality of RPE

Occasional (5-29%)HP:0007703

Cafe-au-lait spots

Occasional (5-29%)HP:0000957

Cataract

Occasional (5-29%)HP:0000518

Corpus callosum abnormality

Occasional (5-29%)HP:0001273

Glaucoma

Occasional (5-29%)HP:0000501

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Iris coloboma

Occasional (5-29%)HP:0000612

Near sighted

Occasional (5-29%)HP:0000545

Pigmentary retinal deposits

Occasional (5-29%)HP:0000580

Scoliosis

Occasional (5-29%)HP:0002650

Squint

Occasional (5-29%)HP:0000486

Decreased size of cranium

HP:0000252

Related Conditions

Anomaly of chromosome pair 14(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 702345009
UMLS CUI: C2930916
Fully Specified Name: Ring chromosome 14 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.