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Ring chromosome 14 syndrome

ICD-10: Q93.2MeSH: C535487ORPHA: 1440

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

very rare human chromosome abnormality

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with Ring chromosome 14 syndrome, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilitySeizureAtypical behaviorDelayed speech and language developmentHypotoniaMotor delayIntrauterine growth retardationRecurrent infectionsSecondary microcephalyPostnatal growth retardationInterictal EEG abnormalityStrabismusGlaucomaCataractMyopiaIris colobomaHyperactivityCafe-au-lait spotAbnormal corpus callosum morphologyScoliosisAbnormal retinal pigmentation

Classification & Codes

ICD-10 Code

Q93.2

MeSH Code

C535487

Orphanet Code

ORPHA:1440
Ring chromosome 14 syndrome
ICD-10Q93.2
MeSHC535487
OrphanetORPHA:1440
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO