Rhizomelic chondrodysplasia punctata type 3 (Q95908): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/110878063 / rank | |||
Normal rank | |||
Revision as of 11:44, 16 August 2026
This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 3 (RCDP3) is associated with AGPS mutations.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_110878063 |
||
| English | Rhizomelic chondrodysplasia punctata type 3 |
This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 3 (RCDP3) is associated with AGPS mutations. |
