Rhizomelic chondrodysplasia punctata type 3 (Q95908)
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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. |
Statements
CID11:ID_110878063
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dki-india-ID_110878063
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Concluído
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15 August 2026
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