Global Variome shared LOVD

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Phenotype #0000284206 Individual ID 00390718 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details intrauterine growth retardation (-4.0 SD); short stature (-3.6 SD); developmental delay; normocephaly; thin upper lip, micrognathia, low set ear; Laryngomalacia, feeding difficulty, vomiting in early infancy Inheritance Familial, autosomal dominant Age/Examination 4y6m (4 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-11 17:06:31 +01:00 (CET) Date last edited N/A

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