Global Variome shared LOVD

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Phenotype #0000187320 Individual ID 00248322 Associated disease NEM Phenotype details see paper; ..., fetal akinesia sequence, arthrogryposis, macrocephaly, hypospadias; no antigravity movements at birth; delivery polyhydramnios, breech presentation, emergency Cesarean section (h31+2); 3m dies (active support discontinued) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite NEM-9 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 2019-07-21 21:07:16 +02:00 (CEST) Date last edited N/A

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