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paternal 20q13.2q13.3 microdeletion syndrome

ORPHA: 261304

Contents

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

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 paternal 20q13.2q13.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

Thin vermilion borderMicrocephalyHypertelorismShort philtrumMicrognathiaHigh foreheadMacrotiaBulbous noseWide nasal bridgeDeeply set eyeThin skinHypopigmentation of the skinHypotoniaMild intellectual disabilityFailure to thriveIntrauterine growth retardationOligohydramniosRespiratory distressSparse hairSkin dimpleModerate global developmental delayFeeding difficultiesLipoatrophyAplasia/Hypoplasia of the eyebrow

Classification & Codes

Orphanet Code

ORPHA:261304
paternal 20q13.2q13.3 microdeletion syndrome
OrphanetORPHA:261304
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO