Phenotype #0000000803

Individual ID 00001636
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX; no seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 40w; weight 2610 (-2)
Height-Weight-OFC 87cm (-1.75); 13.4Kg (+0); 43.5cm (-4)
Protein -
Owner name Dennis E. Bulman
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Dennis E. Bulman
Date created 2013-07-29 01:11:40 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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