Global Variome shared LOVD

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

Phenotype #0000337439 Individual ID 00448229 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite HSAN9 Inheritance Familial, autosomal recessive Phenotype details intellectual disability; autism spectrum disorder; microcephaly; strabismus; gastroesophageal reflux; limb anomalies Age/Examination 15y2m (15 years, 2 months) Age/Diagnosis 15y 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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