Phenotype #0000001398

Individual ID 00002420
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details birth OFC of 33cm/-1SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; lower-eyelid cleft; microtia; unilateral preauricular tags; bilateral auditory canal atresia or stenosis; conductive hearing loss; midline cleft palate including submucous; mild to moderate global developmental delay; walking at 19m; abnormal white matter on FLAIR; ASD; 46,XY; normal microarray findings; seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 40w; weight 3000 (-1)
Height-Weight-OFC 89cm (-0.75); 12.7kg (-0.75); 44.5cm (-4)
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-09-01 17:55:39 +02:00 (CEST)
Date last edited 2025-03-08 16:47:04 +01:00 (CET)

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