Phenotype #0000002075

Individual ID 00003235
Associated disease CFND;CFNS
Phenotype details normal mental performance, no behavioral abnormalitiesnormal body height; I1 (male) slight facial asymmetry, broad nasal bridge; II1 severe facial asymmetry, hypertelorism, hypoplasia corpus callosum; III2 facial asymmetry, hypertelorism, agenesis corpus callosum, complete syndactyly left 3/4th finger, scoliosis
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-11-03 11:14:26 +01:00 (CET)
Date last edited N/A

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