Global Variome shared LOVD

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Phenotype #0000221937 Individual ID 00288200 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details microcephaly, failure to thrive, hemihypertrophy of lower limb, strabismus, cortical visual impairment, hypermetropia, central sleep apnea, muscular hypotonia, reduced intestinal motility, global developmental delay, decreased CSF homovanillic acid, infantile spasms, hypsarrhythmia, cerebellar vermis atrophy, cerebral white matter atrophy, osteopenia, decreased serum creatinine, increased IgM level, erythrocyte macrocytosis, low alkaline phosphatase, hypoalbuminemia, abnormal lymphocyte count, monocytosis, increased serum testosterone level, premature adrenarche, neutropenia, hypoglycemia, abnormal neutrophil cell number Inheritance Isolated (sporadic) Age/Examination 2y (2 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 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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