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)

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