Global Variome shared LOVD

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Phenotype #0000002074 Individual ID 00003234 Associated disease CFND;CFNS Phenotype details hypertelorism, orbital asymmetry, brachycephaly, brachydactyly, Sprengel deformity, normal mental performance, no behavioral abnormalitiesnormal body height; III6 had four miscarriages (mid-pregnancy), uterus arcuatus, curly hair, grooved finger nails, unilateral breast hypoplasia; III2 (male) phenotypic abnormalities; V3 (male) broad nasal bridge (9y inner canthel distance 3.8 cm) 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 11:05:08 +01:00 (CET) Date last edited N/A

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