Phenotype #0000001570

Individual ID 00002607
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details polyhydramnios; height at 2.5y 84.5cm/-1.91SD; weight at 2.5y 11kg/-1.3SD; OFC at 2.5y 43.4cm/-5.3SD; mild ID; walking at 24m; first words at 30m; hyperplastic supraorbital ridges; frontal bossing; upslanting palpebral fissures; microtia with squared earlobe; cleft palate; micrognathia; absence of middle ear pneum; hypoplasia of malleus and incus; no seizures
Inheritance Unknown
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 40w; weight 4000 (1.3)
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 14:37:22 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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