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 InternationalCreative Commons License
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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