Global Variome shared LOVD

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Phenotype #0000352827 Individual ID 00467616 Associated disease ? Diagnosis/Initial global developmental delay Diagnosis/Definite ALAZS Phenotype details see paper; ..., growth retardation (-3.5SD), moderate developmental delay, no regression, axial hypotonia; dysmorphic features (scaphocephalic, frontal bossing, prominent forehead, depressed/wide nasal bridge, mildly bulbous tip nose, telecanthus, mild hypertelorism, prominent ears, small hands with short distal phalanges/nails; MRI brain normal, small kidneys, several small atrial septal defects, mild left pulmonary artery stenosis, thin/short distal phalanges hands; borderline anemia Inheritance Familial, autosomal recessive Age/Examination 08y (8 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 2025-10-24 13:11:44 +02:00 (CEST) Date last edited N/A

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