Global Variome shared LOVD

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Phenotype #0000309723 Individual ID 00418354 Associated disease - Phenotype details whole family description: typical Leber congenital amaurosis: lack of electroretinogram, infantile nystagmus, and pigmentary retinopathy with a ""rubelliform"" appearance; several mild additional phenotypes - delayed walking (after age 2), slowness in learning speech (after age 3 and 4), mild facial dysmorphism with bilateral enophtha Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis (LCA) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-28 18:16:57 +02:00 (CEST) Date last edited N/A

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