Global Variome shared LOVD

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Phenotype #0000254756 Individual ID 00336032 Associated disease LEPID Diagnosis/Initial - Diagnosis/Definite LEPID Phenotype details birth-OFC -2.3 SDS, current OFC -4 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) Inheritance Familial, autosomal recessive Age/Examination 01y04m (1 year, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Gerarda Cappuccio Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2021-03-23 14:01:50 +01:00 (CET) Date last edited 2021-03-25 14:46:12 +01:00 (CET)

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