| CHONDRODYSPLASIA PUNCTATA2, X-LINKED DOMINANT | |
| CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT; CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT TYPE | |
|
302960
OMIM = Online Mendelian Inheritance of Men | |
|
35173 | |
| 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| 5.3.3.5 | |
| rare X-linked dominant lethal in males | |
| Laboratory findings | 8(9)-cholestenol inc (plasma) 8-Dehydrocholesterol inc (plasma) |
| Symptoms | rhizomelia alopecia cataract dysmorphism ichthyosis laryngeal and tracheal calcification nails, dystrophic punctate calcifications skoliosis, kyphoskoliosis early death failure to thrive hyperkeratosis limb abnormalities, limb deformities mental retardation onset, infancy onset, neonatal saddle nose short stature vertebral changes or anomalies X-ray, abnormalities |