Global Variome shared LOVD

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Phenotype #0000309234 Individual ID 00417861 Associated disease FADS Phenotype details see paper; ..., prenatal cystic hygroma; birth 37w, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm extremely high domes, pulmonary hypoplasia; generalized muscle weakness; no clinodactyly; renal hypoplasia Diagnosis/Initial perinatally lethal fetal akinesia Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2022-09-27 09:16:29 +02:00 (CEST) Date last edited N/A

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