Rhizomelic chondrodysplasia punctata type 2 (Q95917): Difference between revisions
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Este é um raro distúrbio de desenvolvimento cerebral caracterizado por encurtamento sistêmico dos ossos proximais (ou seja, rizomelia), convulsões, infecções recorrentes do trato respiratório e catarata congênita. O tipo 2 (RCDP2) está associado a mutações DHAPAT. | |||
| 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 2 (RCDP2) is associated with DHAPAT 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 2 (RCDP2) is associated with DHAPAT mutations.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_179969811 |
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| English | Rhizomelic chondrodysplasia punctata type 2 |
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 2 (RCDP2) is associated with DHAPAT mutations. |
