Phenotype #0000001592

Individual ID	00002629
Associated disease	MFDGA;MFDM
Diagnosis/Initial	-
Diagnosis/Definite	MFDGA
Phenotype details	polyhydramnios; birth OFC 32.3cm/-1SD; height at 4.5y 100.7cm/-1.6SD; weight at 4.5y 18.2kg/1SD; OFC at 4.5y 46.6cm/-3.3SD; mild ID; walking at 18m; first words at 12m; mild facial asymmetry; down slanting palpebral fissures; microtia with squared earlobe; hypoplasia of exteral ear canal; conductive hearing loss; reduced mouth opening; micrognathia; tracheostomy; esophageal atresia; small middle ear cavity; normal cochlea and semicircular canals; 46,XX; normal FISH 22q; normal SNP array; no seizures
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Birth_Details	37w; weight 2900 (0)
Height-Weight-OFC	-
Protein	-
Owner name	Dennis E. Bulman
Database submission license	No license selected
Created by	Dennis E. Bulman
Date created	2013-09-10 17:23:17 +02:00 (CEST)
Date last edited	2025-03-08 16:47:50 +01:00 (CET)