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GENATLAS PHENOTYPE |
last update : 07-05-2018 |
Symbol | AMDHG |
Location | 4q22.3 |
Name | acromesomelic chondrodysplasia and hypogonadism |
Other name(s) | Acromesomelic dysplasia, Demirhan type |
Corresponding gene | BMPR1B |
Other symbol(s) | AMDD |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | osteo-articular |
sex-genitalia | |
Type | malformation |
Gene product |
Name | bone morphogenetic protein receptor, type IB |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|  
| abnormal protein/loss of function
|  
| |
Remark(s) |