Phenotype #0000000801

Individual ID 00001637
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details Birth head circumference of 33cm/-2SD; Malar hypoplasia; Micrognathia; Upslanting obliquity of palpebrae; Lower-eyelid cleft; Microtia; Unilateral preauricular tags; Bilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Bilateral choanal atresia; Mild to moderate global developmental delay; Walking at 16m; Speaking at 24m; Delayed myelination at 15m; Metopic ridge; Congenital heart defect(ASD); Hypoplastic toenails and delayed bone age; Normal microarray fining; seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details 42w; weight 3180 (-1.5)
Height-Weight-OFC 122cm (-1); 24kg (0); 47cm (-3.5)
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-07-28 16:03:21 +02:00 (CEST)
Date last edited 2025-03-08 16:47:04 +01:00 (CET)

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