Rhizomelic chondrodysplasia punctata type 1 (Q95905): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Verification Status | |||
Concluído | |||
| Property / Verification Status: Concluído / 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 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_44503513 |
||
| English | Rhizomelic chondrodysplasia punctata type 1 |
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 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired. |
Statements
CID11:ID_44503513
0 references
dki-india-ID_44503513
0 references
Concluído
0 references
