Global Variome shared LOVD

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

Phenotype #0000337443 Individual ID 00448233 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite HSAN9 Inheritance Familial, autosomal recessive Phenotype details intellectual disability; microcephaly; minor facial anomalies; scoliosis; renal tubular acidosis; poikiloderma Age/Examination 6y (6 years) Age/Diagnosis 3y8m Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-23 14:52:21 +01:00 (CET) Date last edited N/A

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