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
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)

Global Variome shared LOVD