Global Variome shared LOVD

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

Phenotype #0000000799 Individual ID 00001633 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details Paternal age of 35y; Birth head circumference of 30.5/-1.75SD; Malar hypoplasia; Micrognathia; Upslanting of the obliquity of palpebrae; Microtia; Preauricular tag; Conductive hearing loss; Choanal atresia; Need for neonatal resuscitation; Tracheostomy; Global developmental delay; Walking at 28m; Unable to talk at last assessment at 36m; Normal brain MRI; Gastrostomy; Metopic ridge; proximally placed thumb; Cryptorchidism and small scrotum Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 37w; weight 2150 (-2) Height-Weight-OFC normal; normal; -3.5 Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-07-28 03:45:58 +02:00 (CEST) Date last edited 2025-03-08 16:45:03 +01:00 (CET)

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