Phenotype #0000014788

Individual ID 00016105
Associated disease ARCND1
Phenotype details severe mandibular abnormalities, congenital mandibular ankylosis with lateral fusion mandible to temporozygomatic suture, medial fusion to skull base (medial and lateral pterygoid plates), resulting in airway obstruction requiring tracheostomy; severe microglossia, elongated soft-tissue masses attached at posterior floor mouth, excessive soft tissue protruding from medial alveolus lower jaw
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-02-24 23:10:07 +01:00 (CET)
Date last edited N/A

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