Phenotype #0000237128

Individual ID 00311879
Associated disease DRS
Phenotype details see paper; ..., short stature, mesomelic limb shortening, hypertelorism, mandibular hypoplasia, irregular dental alignment, genital hypoplasia; radiography short long bones
Diagnosis/Initial Robinow syndrome
Inheritance Familial, autosomal dominant
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