Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000254807 Individual ID 00359552 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details OFC 43 cm; height 94cm; not sitting, not standing; speech few single syllable words; MRI brain abnormal; enlarged lateral ventricles; corpus callosum atrophy; simplified gyral pattern; corpus callosum agenesis, supratentoria larea, mild leukodystrophic pattern; microcephaly; no autistic behaviour; no seizures Inheritance Familial, autosomal recessive Age/Examination 1y7m (1 year, 7 months) Age/Diagnosis - Age/Onset 1d 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 2021-03-25 10:04:28 +01:00 (CET) Date last edited N/A

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