Phenotype #0000001583

Individual ID 00002622
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details birth height 49cm/-0.5SD; birth OFC 34cm/-0.4cm; height at 3.5y 98cm/0SD; weight at 3.5y 14.6kg/-0.2SD; 45cm/-3.3SD; moderate ID; walking at 36m; first words at 24m; hyperplastic supraorbital ridges; sloping forehead; microtia with squared earlobe; preauricular tag; preauricular pit; hypoplasia of external ear canal; hearing loss; reduced mouth opening; micrognathia; slightly proximal placed thumbs; seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 38w; weight 3600 (0.5)
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 16:33:28 +02:00 (CEST)
Date last edited 2025-03-08 16:47:04 +01:00 (CET)

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