Phenotype #0000001401

Individual ID 00002423
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details increased NT and microcephaly; birth OFC of 30cm/-3SD; malar hypoplasia; micrognathia; level obliquity of palpebrae; microtia; bilateral preauricular tags; unilateral auditory canal atresia or stenosis; conductive hearing loss; unilateral choanal atresia; mild global developmental delay; walking at 24m; first words at 20m; normal brain MRI; gastrostomy; proximally placed thumb; myopia; middle ear and vestibular hypoplasia; 46,XX; no seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details weight 2850 (-1.25)
Height-Weight-OFC 117.4cm (0); 22.5kg (0); 43.8cm (-5)
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-09-01 22:54:12 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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