Global Variome shared LOVD

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

Phenotype #0000001407 Individual ID 00002430 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details IUGR; adult weight of 0SD; adult height of 0SD; adult head circumference of -2SD; facial asymmetry; mandibular hypoplasia; asymmetric dysplasia of external ears; moderate delayed psycho/motor development; 2/3 toe syndactyly; thenar hypoplasia; oesophageal atrisia type C; normal array-CGH (Agilent 105K); normal sequence of MYCN and MIR17HG genes Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 36.5w; weight (-1.5) Height-Weight-OFC - Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-09-05 03:04:42 +02:00 (CEST) Date last edited 2025-03-08 16:45:03 +01:00 (CET)

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