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autosomal recessive frontotemporal pachygyria

MeSH: C538092ORPHA: 329329

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 autosomal recessive frontotemporal pachygyria, sourced from HPO and Orphanet clinical annotations.

Urinary incontinenceDelayed speech and language developmentHypotoniaGlobal developmental delayPachygyriaReduced tendon reflexesBilateral tonic-clonic seizureHypertelorismTelecanthusEsotropiaSeizure

Classification & Codes

MeSH Code

C538092

Orphanet Code

ORPHA:329329
autosomal recessive frontotemporal pachygyria
MeSHC538092
OrphanetORPHA:329329
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO