Phenotype #0000001419

Individual ID 00002456
Associated disease MFDGA;MFDM
Diagnosis/Initial -
Diagnosis/Definite MFDGA
Phenotype details OFC of 51.8cm/-1SD; height of 137.6/-1SD; facial asymmetry; choanal atresia; left epibulbar dermoid; unilateral cleft of zygomatic arch; bilateral microtia (grade 3); bilateral preauricular skin tags; atretic external auditory canal; conductive hearing loss; normal inner ear; hypoplastic/dysplastic ossicles; mandibular hypoplasia; malar hypoplasia; micrognathia (asymmertric); bifid uvula; proximally placed thumb; normal cervical spine; cooperative personality; answer questions appropriately; no unusual behaviors; mild developmental delay; no seizures
Inheritance Isolated (sporadic)
Age/Examination -
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Birth_Details weight 2693 (-2)
Height-Weight-OFC -
Protein -
Owner name Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Date created 2013-09-05 23:15:57 +02:00 (CEST)
Date last edited 2025-03-08 16:47:50 +01:00 (CET)

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