Rhizomelic chondrodysplasia punctata type 3 (Q95908): Difference between revisions
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Este é um distúrbio raro de desenvolvimento cerebral, caracterizado por encurtamento sistêmico dos ossos proximais (ou seja, rizomelia), convulsões, infecções recorrentes do trato respiratório e catarata congênita. O tipo 3 (RCDP3) está associado a mutações AGPS. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
