cryptorchidism
We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML).
We describe a dominant developmental disorder resulting from germline missense <span class="gene" id="20694012-2-79-82">CBL</span> mutations, which is characterized by impaired growth, developmental delay, <span class="disease" id="20694012-2-158-172">cryptorchidism</span> and a predisposition to juvenile myelomonocytic leukemia (JMML).