Global Variome shared LOVD

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

Phenotype #0000001406 Individual ID 00002429 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details hydramnios; birth head circumference of +0.5SD; weight at 13m of -2.5SD; height at 13m of -2.5SD; head circumference of -4SD; facial asymmetry; mandibular hypoplasia; dysplastic low-set ears; unilateral preauricular tags; conductive hearing loss; moderate delayed psycho/motor development; ASD; oesophageal atresia; normal karyotype; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 36w; 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 02:47:43 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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