Global Variome shared LOVD

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Phenotype #0000309233 Individual ID 00417860 Associated disease FADS Phenotype details see paper; ..., prenatal polyhydramnios; birth 35w+1, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm very high domes, pulmonary hypoplasia; generalized muscle weakness; clinodactyly; unilateral cryptorchidism; unlateral hydronephrosis 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 09:14:11 +02:00 (CEST) Date last edited N/A

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