Global Variome shared LOVD

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

Phenotype #0000001565 Individual ID 00002602 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details polyhydramnios; birth height 51cm/-0.8SD; birth OFC 34cm/-0.6SD; height at 21y 158cm/-1.5SD; weight at 21y 63kg/0.5SD; OFC at 21y 51cm/-3.7SD; ID with IQ 75; walking at 16m; first word at 16m; upslanting palpebral fissures; microtia with squared earlobe; bilateral conductive hearing loss; reduced mouth opening; micrognathia; esophageal atresia; ASD; scoliosis; bilateral cleft of zygomatic bone; clinodactyly V; no seizures Inheritance Familial, autosomal dominant Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 41w; weight 3010 (-1.4) Height-Weight-OFC - Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-09-10 09:39:58 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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