Global Variome shared LOVD

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Phenotype #0000228815 Individual ID 00301717 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details developmental delay, hypotonia since birth, and dysmorphic features (triangular face, brachycephaly epicanthal fold, hypertelorism, broad nasal bridge, and strabismus). Brain MRI shown left middle frontal and bilateral anterior temporal small arachnoid cysts with some adjacent mass effect. Healthy double first cousin parents with no other affected children. Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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