Phenotype #0000308346

Individual ID 00416626
Associated disease MCLMR
Inheritance Isolated (sporadic)
Phenotype details best corrected visual acuity right, left eye: 0.12,0.2; refraction right, left eye: +2/ -3 x 165 deg, +3.75/ -3.25 x 10 deg; ocular fundus: lacunae of chorioretinal atrophy, macular pigmentary changes; electrodiagnostic testing: generalized loss of rod function with evidence of inner retinal cone on-system involvement both eyes. pattern electroretinogram evidence of macular dysfunction, worse on the right
Diagnosis/Initial -
Age/Examination 10y (10 years)
Diagnosis/Definite microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-07 14:46:17 +02:00 (CEST)
Date last edited N/A

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