Joubert syndrome (Q46017): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Knowledge Architect | |||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||
Normal rank | |||
Revision as of 14:19, 13 August 2026
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD20.00 |
||
| English | Joubert syndrome |
Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. |
Statements
CID11:LD20.00
0 references
dki-india-LD20.00
0 references
Concluído
0 references
