Global Variome shared LOVD

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

Phenotype #0000001399 Individual ID 00002421 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details polyhydramnios; birth OFC of 31cm/-3.5SD; micrognathia; level obliquity of palpebrae; bilateral lower-eyelid cleft; unilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; ASD; 46,XX; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 41+4w; weight 3330 (-1) Height-Weight-OFC 69cm (-2); 6.72kg (-4); 39.8kg (-5) Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-09-01 18:14:19 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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