Global Variome shared LOVD

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Phenotype #0000298280 Individual ID 00405783 Associated disease BFLS Phenotype details Global developmental delay, Motor delay, Hypotonia, Infantile muscular hypotonia, Strabismus, Hypoglycemia, Neonatal hypoglycemia, Esodeviation, Patent foramen ovale, Constipation, Atrial septal defect, Plagiocephaly, Abnormality of calvarial morphology, Abnormal corpus callosum morphology, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Sleep disturbance, Sleep apnea, Abnormal testis morphology, Retractile testis, Lacrimal duct stenosis, Nasolacrimal duct obstruction Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-03-22 13:41:02 +01:00 (CET) Date last edited 2022-03-27 09:34:53 +02:00 (CEST)

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