familial infantile bilateral striatal necrosis
Findings
No curated finding names familial infantile bilateral striatal necrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
Definition from the Mondo Disease Ontology (MONDO:0010080), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
38 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 speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Atrophy/Degeneration involving the caudate nucleusHPOHP:0007374
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Basal ganglia gliosisHPOHP:0006999
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- Delayed speech and language development
Show the remaining 26
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Horizontal pendular nystagmusHPOHP:0007811
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
Genes
3 genes
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.
- NUP62HGNC:8066
- Strong · G2P · Autosomal recessive · 2015
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- ADARHGNC:225
- Supportive · Orphanet · Autosomal dominant · 2021
- MT-ATP6HGNC:7414
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: familial infantile bilateral striatal necrosis
- Also called
- familial IBSNfamilial infantile striatonigral degenerationfamilial infantile striatonigral necrosishereditary infantile bilateral striatal necrosis