Global Variome shared LOVD

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Phenotype #0000002073 Individual ID 00003233 Associated disease CFND;CFNS Phenotype details hypertelorism, craniofacial abnormalities (orbital asymmetry), normal mental performance, no behavioral abnormalitiesnormal body height; III1-hypertelorism, bifid nasal tip, grooved nails, axillary pterygium, slight pterygium colli; I2/II6, hypertelorism, grooved nails; male carriers II3/II5 hypertelorism Diagnosis/Initial - Inheritance Familial, X-linked dominant, male sparing 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 International Created by Johan den Dunnen Date created 2013-11-03 10:42:52 +01:00 (CET) Date last edited N/A

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