Silverman-Handmaker type dyssegmental dysplasia (Q30989968)
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osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36
- DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
- Dyssegmental Dwarfism, Silverman-Handmaker Type
- Dyssegmental dwarfism Silverman-Handmaker type
- Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
- DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH
- Dyssegmental dysplasia Silverman-Handmaker type
- DDSH
- Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Silverman-Handmaker type dyssegmental dysplasia |
osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36 |
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