Global Variome shared LOVD

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Phenotype #0000331329 Individual ID 00441946 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details see paper; ..., 7d-deceased; skull asymmetry, high forehead, flat orbital ridges, hypertelorism, low set ears, high‐arched palate, small chin, small thorax; severe central hypotonia, poor suck, weak cry.; not available; mild left pulmonary stenosis, atrial septal defect secundum; 3w-NICUfor respiratory distress; feeding difficulties, constipation, distended abdomen; small thoracic cage, arched back, clenched hands, bilateral overlapping of fingers and toes; minimal vision, esotropia Inheritance Familial, autosomal recessive Age/Examination 7d 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 2023-11-16 13:17:26 +01:00 (CET) Date last edited N/A

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