brain small vessel disease 2B, autosomal recessive
MONDO:0980747Mondo
Findings
No curated finding names brain small vessel disease 2B, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
24 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Cerebral palsyHPOHP:0100021
- 2 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- ColpocephalyHPOHP:0030048
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- EEG with polyspike wave complexesHPOHP:0002392
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 2 of 2 reported patients
- Generalized-onset seizureHPOHP:0002197
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 12
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- Intracranial calcificationHPOHP:0430048
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- OphthalmoplegiaHPOHP:0000602
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Profound global developmental delayHPOHP:0012736
- 1 of 1 reported patient