Global Variome shared LOVD

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

Phenotype #0000001415 Individual ID 00002443 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details birth height of 0/-1.5SD; adult weight of 0SD; adult height of -1SD; adult head circumference<-2SD; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss; milder delayed psycho/motor development; brachydactyly; abnormal semicircular canal; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 37-41w 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 21:15:24 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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