cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
MONDO:0958193Mondo
Findings
No curated finding names cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 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 · Death in childhood
HPO, annotations 2026-09-02
Features
7 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.
- CataractHPOHP:0000518
- 2 of 2 reported patients
- EnterocolitisHPOHP:0004387
- 2 of 2 reported patients
- Nephrotic syndromeHPOHP:0000100
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 2 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 2 reported patients
- Focal segmental glomerulosclerosisHPOHP:0000097
- 1 of 2 reported patients
- Mesangial hypercellularityHPOHP:0012574
- 1 of 2 reported patients