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distal 7q11.23 microdeletion syndrome

ORPHA: 254351

Contents

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

Overview

human disease

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 7q11.23 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyAutismAggressive behaviorIntellectual disabilitySeizureSpecific learning disabilityAtrial septal defectPatent ductus arteriosusPorencephalic cystChiari malformationAttention deficit hyperactivity disorderBipolar affective disorder

Classification & Codes

Orphanet Code

ORPHA:254351
distal 7q11.23 microdeletion syndrome
OrphanetORPHA:254351
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
distal 7q11.23 microdeletion syndrome | OrphanDrug