autosomal recessive frontotemporal pachygyria
MONDO:0012462Mondo
Findings
No curated finding names autosomal recessive frontotemporal pachygyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- PachygyriaHPOHP:0001302
- Very frequent (80% to 99% of cases)
- Urinary incontinenceHPOHP:0000020
- Very frequent (80% to 99% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)