Global Variome shared LOVD

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Phenotype #0000284205 Individual ID 00390717 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details no intrauterine growth retardation (weight 50-75th percentile, height <3rd percentile); short stature( < 3rd percentile); developmental delay; microcephaly; blue sclera; upslanting palpebral fissures, large, low‐set ears, a broad nasal bridge with anteverted nares, downturned corners of the mouth; short neck; widely spaced nipples; Atrial septal defect; fifth finger clinodactyly, small hands and feet Inheritance Familial, autosomal dominant Age/Examination 3m 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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