Global Variome shared LOVD

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

Phenotype #0000001408 Individual ID 00002433 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details birth height<-2SD; birth head circumference of -3SD; weight at 10y of -2SD; height at 10y of -1SD; head circimference at 10y of -4SD; malar hypoplasia; mandibular hypoplasia; dysplastic ears; auditory canal atresia/stenosis; mixed hearing loss; mild delayed psycho/motor development; oesophageal atresia type C; cryptochidism; lacrymal duct stenosis;; seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 39w; weight (-1) 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 17:43:58 +02:00 (CEST) Date last edited 2025-03-08 16:47:04 +01:00 (CET)

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