Global Variome shared LOVD

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Phenotype #0000000800 Individual ID 00001634 Associated disease MFDGA;MFDM Diagnosis/Initial - Diagnosis/Definite MFDGA Phenotype details Paternal age of 26; Malar hypoplasia; Micrognathia; Downslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Sensorineural hearing loss; Bifid uvula; Need for neonatal resuscitation; Global developmental delay; Metopic ridge; Congenital heart defect(ASD); Proximally placed thumb; Crypotorchidism and small scrotum; no seizures Inheritance Isolated (sporadic) Age/Examination - Age/Onset - Phenotype/Onset - Age/Diagnosis - Birth_Details 39w; weight 2400 (-2.5) Height-Weight-OFC 71cm (-3); 8kg (-3.5); 43cm (-3) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-07-28 14:45:00 +02:00 (CEST) Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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