Brachyolmia type 1, Hobaek type (Q101708): Difference between revisions
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A braquiolmia tipo 1, tipo Hobaek é uma forma autossômica recessiva de braquiolmia, um grupo de transtornos esqueléticos genéticos raros, e que é caracterizada por baixa estatura, tronco curto, platiespondilia, teto acetabular horizontal, colo femoral curto sem opacidades corneanas. | |||
| description / en | description / en | ||
Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia, a group of rare genetic skeletal disorders, and is characterised by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities. | |||
Revision as of 18:33, 16 August 2026
Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia, a group of rare genetic skeletal disorders, and is characterised by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1213374086 |
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| English | Brachyolmia type 1, Hobaek type |
Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia, a group of rare genetic skeletal disorders, and is characterised by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities. |
