Phenotype #0000254751

Individual ID 00336022
Associated disease LEPID
Diagnosis/Initial -
Diagnosis/Definite LEPID
Phenotype details birth-OFC -1.7 SDS, current OFC -5.7 SDS; growth delay; developmental delay/intellectual disability; no movement disorder; seizures; no oculomotor dysfunction; hearing loss; no immunological and hematological abnormalities; no white matter lesions; cerebral tissue loss; no brain calcifications; heart involvement; increased lactate (serum, CSF, or MRS)
Inheritance Familial, autosomal recessive
Age/Examination 14y (14 years)
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 13:47:17 +01:00 (CET)
Date last edited 2021-03-25 14:50:47 +01:00 (CET)

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