fried syndrome
MONDO:0019428Mondo
Findings
No curated finding names fried syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
Definition from the Mondo Disease Ontology (MONDO:0019428), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Cerebral calcificationHPOHP:0002514
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Poor speechHPOHP:0002465
- Very frequent (80% to 99% of cases)
- Spastic diplegiaHPOHP:0001264
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
Show the remaining 9
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Occasional (5% to 29% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AP1S2HGNC:560
- Supportive · Orphanet · X-linked · 2021