Phenotype #0000000799

Individual ID 00001633
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details Paternal age of 35y; Birth head circumference of 30.5/-1.75SD; Malar hypoplasia; Micrognathia; Upslanting of the obliquity of palpebrae; Microtia; Preauricular tag; Conductive hearing loss; Choanal atresia; Need for neonatal resuscitation; Tracheostomy; Global developmental delay; Walking at 28m; Unable to talk at last assessment at 36m; Normal brain MRI; Gastrostomy; Metopic ridge; proximally placed thumb; Cryptorchidism and small scrotum
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 37w; weight 2150 (-2)
Height-Weight-OFC normal; normal; -3.5
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-28 03:45:58 +02:00 (CEST)
Date last edited 2025-03-08 16:45:03 +01:00 (CET)

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