Global Variome shared LOVD

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Phenotype #0000230361 Individual ID 00303285 Associated disease ? Diagnosis/Initial Meier Gorlin like Diagnosis/Definite - Phenotype details see paper; ..., prenatal groth restriction, postnatal groth restriction, relative macrocephaly, mild facial dysmorphism, frequent respiratory tract infections; 4y-very shrt (-5.1 SD), unexplained chronic bloody diarrhea, normal development Inheritance Familial, X-linked recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-09 14:01:42 +02:00 (CEST) Date last edited N/A

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