Phenotype #0000000802

Individual ID 00001635
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/ stenosis; Conductive hearing loss; Bilateral choanal atresia; Need for neonatal resuscitation; Moderate global developmental delay; Walking at 24m; First words at 30m; Mild peripheral pulmonic stenosis; 46,XX; Normal microarray findings; seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 33w; weight 1500 (-1.5)
Height-Weight-OFC 118cm (-1); 24kg (0); 42.5cm (-6)
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 00:40:18 +02:00 (CEST)
Date last edited 2025-03-08 16:47:04 +01:00 (CET)

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