Global Variome shared LOVD

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Phenotype #0000210718 Individual ID 00276129 Associated disease ? Diagnosis/Initial hearing loss Diagnosis/Definite ALAZS Phenotype details see paper; ..., low birth weight (2330g); patent foramen ovale; delayed early psychomotor development; 7m-head control, 18m-sit, 24m-walk, never attained fully autonomous walking, no speech, no sphincter control; profound bilateral neurosensorial deafness Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pietro Palumbo Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Pietro Palumbo Date created 2020-01-28 13:18:41 +01:00 (CET) Date last edited 2025-10-27 12:33:21 +01:00 (CET)

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