Phenotype #0000254754

Individual ID 00336012
Associated disease LEPID
Diagnosis/Initial -
Diagnosis/Definite LEPID
Phenotype details birth-OFC -1.2 SDS, current OFC -3.2 SDS; no growth delay; developmental delay/intellectual disability; no movement disorder; seizures; oculomotor dysfunction; no hearing loss; no immunological and hematological abnormalities; no white matter lesions; no cerebral tissue loss; no brain calcifications
Inheritance Familial, autosomal recessive
Age/Examination 03y05m (3 years, 5 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 13:53:06 +01:00 (CET)
Date last edited 2021-03-25 14:48:45 +01:00 (CET)

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