Global Variome shared LOVD

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Phenotype #0000317886 Individual ID 00426732 Associated disease - Phenotype details small cardiac ventricular septal defect; development was severely delayed; he started walking at 8 years of age; recurrent and severe aspiration pneumonia; axial hypotonia, fixed contractures of the fingers and toes and ulnar deviation of the right wrist, suggesting the BOS posture; exophthalmos, hypertelorism, micrognathia, low-set posteriorly rotated ears and significant hirsutism; microcephaly and a thin corpus callosum and prominence of the sulci gyri, pericerebral cerebrospinal fluid spaces, ventricles and basal cisterns Diagnosis/Initial Bohring-Opitz syndrome (BOS) Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 3y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-12-02 14:17:29 +01:00 (CET) Date last edited N/A

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