Global Variome shared LOVD

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Phenotype #0000254749 Individual ID 00336015 Associated disease LEPID Diagnosis/Initial - Diagnosis/Definite LEPID Phenotype details birth-OFC -3.3 SDS, current OFC -5.2 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; no seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; no cerebral tissue loss; brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS) Inheritance Familial, autosomal recessive Age/Examination 00y10m (10 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2021-03-23 13:34:17 +01:00 (CET) Date last edited 2021-03-25 14:51:22 +01:00 (CET)

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