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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
  • aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion of carpal/tarsal bones and with hypoplasia of the uterus and ovarian dysfunction resulting in hypergonadotrophic hypogonadism
    • 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 mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function  
    Remark(s)