Global Variome shared LOVD

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Phenotype #0000352858 Individual ID 00467693 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite ALAZS Inheritance Familial, autosomal recessive Phenotype details see paper; ..., delayed milestones, severe intellectual disability; height 139cm (SD-3), OFC 51cm (−2SD); long face, malar flattening, highly arched eyebrows, prognathism; prominent nose, bifid nasal tip; short philtrum; low set ears; high palate, dental crowding, macrodontia; gingival overgrowth; long slender fingers; behavior aggressive, emotional lability Age/Examination 42y (42 years) Age/Diagnosis - 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 2025-10-27 11:55:08 +01:00 (CET) Date last edited N/A

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