Global Variome shared LOVD

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Phenotype #0000352855 Individual ID 00467690 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite ALAZS Phenotype details see paper; ..., delayed milestones, severe intellectual disability; height 123.5 cm (<−3SD), 46.3 cm (<−3SD); triangular face, prominent forehead, malar flattening, micrognathia, laterally sparse eyebrows; left eye buphthalmos; prominent nose, broad nasal tip/ridge; short philtrum; wide mouth, cleft palate, dental crowding, full lips; cortical thinning phalanges and metacarpals; behavior hyperactive, stubborn; café au lait macule on right forearm; inguinal hernia Inheritance Familial, autosomal recessive Age/Examination 13y (13 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 2025-10-27 10:52:17 +01:00 (CET) Date last edited N/A

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