Phenotype #0000308350

Individual ID 00416630
Associated disease MCLMR
Inheritance Isolated (sporadic)
Phenotype details best corrected visual acuity right, left eye: 1.22,0.9; refraction right, left eye: +1.75/ -3.75 x 180 deg, +2.25/ -4 9 x 180 deg; ocular fundus: diffuse retinal atrophy, both eyes macular retinal pigment epithelium pigmentary changes, pale optic discs; electrodiagnostic testing: generalized rod and cone system dysfunction both eyes. pattern electroretinogram evidence of macular dysfunction both ey
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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