Global Variome shared LOVD

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Phenotype #0000352828 Individual ID 00467617 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite ALAZS Phenotype details see paper; ..., uncomplicated pregnancy; 38w-birth, length 46 cm (–1.3SD), weight 2.44 kg (−1.1 SD), subcoronal hypospadias, inguinal hernia, distinct facial features (prominent forehead, narrow palpebral fissures, deep-set eyes, hypertelorism, broad nose, malar hypoplasia; infancy severe hypotonia; delayed motor development (9m-head control, 10m-rolled over, 2y-walke; 2y-length 80.6 cm (−1.14 SD), weight 9.45 kg (−1.28 SD), no speech, intellectual disability (IQ67) Inheritance Familial, autosomal recessive Age/Examination 02y (2 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 13:20:15 +02:00 (CEST) Date last edited N/A

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