Global Variome shared LOVD

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

Phenotype #0000345594 Individual ID 00457093 Associated disease MRXSBL;MRX60 Phenotype details Craniosynostosis, Low-set ears, Epicanthus, Scaphocephaly, Exodeviation, Widened subarachnoid space, Delayed myelination, Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-10-31 15:58:56 +01:00 (CET) Date last edited 2024-10-31 16:15:09 +01:00 (CET)

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