Phenotype #0000001400

Individual ID 00002422
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details increased NT; malar hypoplasia; micrognathia; level obliquity of palpebrae; unilateral preauricular tags; conductive hearing loss; bilateral choanal atresia; moderate global developmental delay; walking at 19m; metopic ridge; proximally placed thumb; 46,XY; normal microarray findings; no seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 42w; weight 3161 (-1.5)
Height-Weight-OFC 116.6cm (-1.5); 22.6kg (-3); 46.4cm (-3)
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-09-01 22:32:36 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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