Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000123771 Individual ID 00151377 Associated disease MYPCN Phenotype details 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); birth-required intubation/ventilation, low weight, hypotonic (absent deep tendon reflexes), scaphocephaly, oval face, hypertelorism, high arched palate; died from respiratory failure; normal CPK level Diagnosis/Initial - 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 2010-03-20 17:25:00 +01:00 (CET) Date last edited 2012-03-04 15:56:04 +01:00 (CET)

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