infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
MONDO:0016981Mondo
Findings
No curated finding names infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
25 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.
- Abnormal basal ganglia morphologyHPOHP:0002134
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Small basal gangliaHPOHP:0012697
- Very frequent (80% to 99% of cases)
- Abnormal brainstem MRI signal intensityHPOHP:0012747
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- ConfusionHPOHP:0001289
- Frequent (30% to 79% of cases)
- DrowsinessHPOHP:0002329
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Inappropriate cryingHPOHP:0030215
- Frequent (30% to 79% of cases)
- Infantile encephalopathyHPOHP:0007105
- Frequent (30% to 79% of cases)
Show the remaining 13
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- Loss of consciousnessHPOHP:0007185
- Frequent (30% to 79% of cases)
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- RestlessnessHPOHP:0000711
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- TetraparesisHPOHP:0002273
- Frequent (30% to 79% 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.
- SLC19A3HGNC:16266
- Supportive · Orphanet · Autosomal recessive · 2021