cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
MONDO:0979867Mondo
Findings
No curated finding names cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 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
- Congenital onset · Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
150 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 circulating creatine kinase activityHPOHP:0040081
- 4 of 4 reported patients
- Abnormal dentate nucleus morphologyHPOHP:0100321
- 1 of 1 reported patient
- Abnormal diffusion weighted cerebral MRI morphologyHPOHP:0032615
- 2 of 2 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 1 of 1 reported patient
- AngerHPOHP:0031473
- 1 of 1 reported patient
- AphasiaHPOHP:0002381
- 1 of 1 reported patient
- Appendicular spasticityHPOHP:0034353
- 2 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Auditory hallucinationHPOHP:0008765
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
Show the remaining 138
- Brisk reflexesHPOHP:0001348
- 3 of 3 reported patients
- Caesarean sectionHPOHP:0011410
- 1 of 1 reported patient
- Cavitation of the basal gangliaHPOHP:0007007
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
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.
- NOTCH3HGNC:7883
- Definitive · ClinGen · Autosomal recessive · 2026