Phenotype #0000237126

Individual ID 00311877
Associated disease DRS
Phenotype details see paper; ..., short stature with limb shortening, hypertelorism, short flat nose, brachydactyly, bilateral cryptorchidism, genital hypoplasia
Diagnosis/Initial Robinow syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite DRS1
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen