cataract-nephropathy-encephalopathy syndrome
Findings
No curated finding names cataract-nephropathy-encephalopathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.
Definition from the Mondo Disease Ontology (MONDO:0009045), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Cerebellar dysplasiaHPOHP:0007033
- 2 of 2 reported patients
- Developmental cataractHPOHP:0000519
- 2 of 2 reported patients · Congenital onset
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Renal tubular epithelial necrosisHPOHP:0008682
- 2 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: cataract-nephropathy-encephalopathy syndrome
- Also called
- crome syndrome