Phenotype #0000299279

Individual ID 00406829
Associated disease -
Phenotype details no photophobia, no night blindness, visual acuity: 20/200, refraction in DS.: -7, electroretinogram: no photopic or scotopic response, non-progressive, nerve deafness (infancy); depigmented skin lesions; primary amenorrhea, coloboma-like macula, disc pallor, varied pigment mottling of retina
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-05 14:08:57 +02:00 (CEST)
Date last edited N/A

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