Global Variome shared LOVD

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

Phenotype #0000001409 Individual ID 00002434 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details polyhydramnios; birth length of -1SD; birth head circumference<-2; weight at 8y of +1SD; height at 8y of +1SD; head circimference at 8y<-4SD; mild malr hypoplasia; mild mandibular hypoplasia; cleft palate(submucous); dysplastic external ears; conductive hearing loss; epicanthic folds; mild delayed psycho/motor development; oesophageal atresia type C; unilateral lateral semicircular canal agenesis;; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 35.5w; weight (<-2) 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 17:58:57 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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