Global Variome shared LOVD

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Phenotype #0000352864 Individual ID 00467698 Associated disease DD Phenotype details see paper; ..., syndromic global developmental delay; low birth size, posterior cleft palate, micropenis, mild neonatal global hypotonia, global developmental delay, stereotypic hands and fingers wringing, feeding difficulties (frequent aspirations, gastroesophageal reflux, growth retardation (weight <−3 SD, height −3.2 SD), microcephaly (−2.4 SD) Diagnosis/Initial syndromic global developmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite ALAZS Age/Examination 03y06m (3 years, 6 months) 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 15:37:48 +01:00 (CET) Date last edited N/A

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