Phenotype #0000001404

Individual ID	00002427
Associated disease	MFDGA;MFDM
Diagnosis/Initial	-
Diagnosis/Definite	MFDGA
Phenotype details	polyhydramnios; birth length of 0/1.5SD; birth head circumference of -0.5/+0.5SD; weight at 8y of +2SD; length at 8y of +2SD; head circumference at 8y of -1SD; facial asymmetry; malar hypoplasia; mandibular hypoplasia; cleft palate; dysplastic external ears; unilateral preauricular tags; unilateral auditory canal atresia/stenosis; mixed hearing loss;hypermetropic astigmatism; moderate delayed psycho/motor develoment; oesophageal atresia; laryngeal diastema and asymptomatic bilateral vesico-ureteral reflux;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Birth_Details	37-41w
Height-Weight-OFC	-
Protein	-
Owner name	Dennis E. Bulman
Database submission license	No license selected
Created by	Dennis E. Bulman
Date created	2013-09-04 23:06:19 +02:00 (CEST)
Date last edited	2025-03-08 16:45:03 +01:00 (CET)

Global Variome shared LOVD