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distal monosomy 13q

MeSH: C566526ORPHA: 1590

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 distal monosomy 13q, sourced from HPO and Orphanet clinical annotations.

Ambiguous genitaliaMicrocephalyHypertelorismIris colobomaOptic atrophyAbnormality of the handHypertoniaHoloprosencephalyAbnormal cardiac septum morphologyAnal atresiaEncephaloceleAnencephalyAbnormal form of the vertebral bodiesShort statureAbnormal metacarpal morphologyAplasia/Hypoplasia of the corpus callosumAplasia/Hypoplasia affecting the eyePrimary adrenal insufficiencyRenal hypoplasia/aplasiaAplasia/Hypoplasia of the thumbCognitive impairmentUrogenital fistula

Classification & Codes

MeSH Code

C566526

Orphanet Code

ORPHA:1590
distal monosomy 13q
MeSHC566526
OrphanetORPHA:1590
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO