encephalopathy, acute, infection-induced, susceptibility to, 9
MONDO:0032742Mondo
Findings
No curated finding names encephalopathy, acute, infection-induced, susceptibility to, 9 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
- Death in infancy · Neonatal onset · Progressive · Death in childhood
HPO, annotations 2026-09-02
Features
23 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.
- ApneaHPOHP:0002104
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HyponatremiaHPOHP:0002902
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Extra-axial cerebrospinal fluid accumulationHPOHP:0012510
- 2 of 3 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 3 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 2 of 3 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 3 reported patients
Show the remaining 11
- CyanosisHPOHP:0000961
- 1 of 3 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 3 reported patients
- Global brain atrophyHPOHP:0002283
- 1 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 3 reported patients
- HypertoniaHPOHP:0001276
- 1 of 3 reported patients
- HypokalemiaHPOHP:0002900
- 1 of 3 reported patients
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.
- NUP214HGNC:8064
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019