Phenotype #0000308347

Individual ID 00416627
Associated disease MCLMR
Inheritance Isolated (sporadic)
Phenotype details best corrected visual acuity right, left eye: 0.8,1.1; refraction right, left eye: +6.25/ -0.5 x 5 deg, +4.75/ -0.5 x 175 deg; ocular fundus: lacunae of chorioretinal atrophy; electrodiagnostic testing: generalized rod and cone system dysfunction. pattern electroretinogram excluded due to variable fixation generalized rod and cone system dysfunction both eyes pattern electroretinogram not perform
Diagnosis/Initial -
Age/Examination 6y (6 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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