Global Variome shared LOVD

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Phenotype #0000352876 Individual ID 00467711 Associated disease DD Phenotype details see paper; ..., 40w-birth, weight 2,500g (-2.3 SD), length 47.5cm (-1.79SD), OFC 33.5 m (-1.12 SD); dysmorphic features, microcephaly, prominent forehead, wide nose, hypertelorism, wide mouth, widely spaced teeth; thrust of hallux on second toe both feet; aphasia, presence of stereotypes, hypersalivation, equinus foot; 1y-severe developmental delay, autism spectrum disorder; 3y-ebrile seizures, recurrent otitis, upper respiratory tract infections Diagnosis/Initial developmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite ALAZS Age/Examination 17y (17 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 18:21:21 +01:00 (CET) Date last edited N/A

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