Global Variome shared LOVD

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

Phenotype #0000024860 Individual ID 00028852 Associated disease MNS Phenotype details see paper; died 30 min after birth; prenatal ultrasonography showed microphthalmos, omphalocele, kyphoscoliosis, clubfeet, polyhydramnios; delivery at 34w, caesarean section, birth weight 1,590 g (<3rd centile), birth length 41.3 cm (<3rd centile), OFC 26.5 cm (<3rd centile); ... Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 00y00m01d (1 day) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yu Sun Database submission license No license selected Created by Yu Sun Date created 2010-04-02 16:29:25 +02:00 (CEST) Date last edited 2015-01-03 12:19:06 +01:00 (CET)

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