X-linked neurodegenerative syndrome, Bertini type
Findings
No curated finding names X-linked neurodegenerative syndrome, Bertini type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.
Definition from the Mondo Disease Ontology (MONDO:0019427), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
9 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.
- Agenesis of corpus callosumHPOHP:0001274
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Epileptic encephalopathyHPOHP:0200134
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of