Phenotype #0000249739

Individual ID 00331547
Associated disease skeletal dysplasia
Diagnosis/Initial skeletal dysplasia
Diagnosis/Definite -
Phenotype details Nonprogressive encephalopathy, Global developmental delay, Bulbous nose, Epicanthus, No
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen