Phenotype #0000310504

Individual ID 00419217
Associated disease OFD1
Phenotype details very mild, only a few accessory frenulae and irregular teeth with no facial anomalies or tongue abnormalities; radiograph of hands: no abnormalities; an abdominal ultrasonography: no cysts in the kidneys, liver, or pancreas
Diagnosis/Initial -
Inheritance Familial, X-linked
Diagnosis/Definite orofaciodigital syndrome, type I (OFD-1)
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-18 20:40:57 +02:00 (CEST)
Date last edited 2022-10-19 11:14:41 +02:00 (CEST)