Global Variome shared LOVD

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Phenotype #0000254753 Individual ID 00336017 Associated disease LEPID Diagnosis/Initial - Diagnosis/Definite LEPID Phenotype details birth-OFC -4 SDS, current OFC -6 SDS; growth delay; developmental delay/intellectual disability; movement disorder; seizures; oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; white matter lesions; cerebral tissue loss; no brain calcifications; no heart involvement; increased lactate (serum, CSF, or MRS) Inheritance Familial, autosomal recessive Age/Examination 02y01m (2 years, 1 month) 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 13:51:05 +01:00 (CET) Date last edited 2021-03-25 14:49:24 +01:00 (CET)

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