Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000337426 Individual ID 00448216 Associated disease ? Diagnosis/Initial rare disorder Diagnosis/Definite - Phenotype details intellectual disability-moderate; short stature; hyperbilirubinemia; acanthosis nigricans; precocious puberty; parental consanguinity Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) 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 2024-02-22 17:47:06 +01:00 (CET) Date last edited N/A

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