X-linked immunoneurologic disorder
MONDO:0010243Mondo
Findings
No curated finding names X-linked immunoneurologic disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.
Definition from the Mondo Disease Ontology (MONDO:0010243), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Neonatal death
HPO, annotations 2026-09-02
Features
15 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.
- NyctalopiaHPOHP:0000662
- 4 of 4 reported patients · Female
- Frequent (30% to 79% of cases)
- Abnormal nervous system physiologyHPOHP:0012638
- Frequent (30% to 79% of cases)
- Decreased circulating IgG2 concentrationHPOHP:0008348
- Frequent (30% to 79% of cases)
- Functional abnormality of the bladderHPOHP:0000009
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
Show the remaining 3
- Brisk reflexesHPOHP:0001348
- Neonatal hypotoniaHPOHP:0001319
- Male
- Progressive proximal muscle weaknessHPOHP:0009073
Where it sits
Other names
6 names
Resolves to: X-linked immunoneurologic disorder
- Also called
- immunoneurologic disorder, X-linkedneonatal death immune deficiencyWoods Black Norbury syndromeWoods-Black-Norbury syndromeWoods-Black-Norbury syndrome, X-linked dominantX-linked immunoneurological disorder