Phenotype #0000308348

Individual ID 00416628
Associated disease MCLMR
Inheritance Isolated (sporadic)
Phenotype details best corrected visual acuity right, left eye: 3,1.3; refraction right, left eye: +4.5/ -2.75 x 20 deg, +6.5/ -2 x 180 deg; ocular fundus: lacunae of chorioretinal atrophy, generalized retinal atrophy, pale discs, attenuated vessels; electrodiagnostic testing: generalized loss of rod function both eyes with asymmetrical cone on- pathway involvement, right > left eye
Diagnosis/Initial -
Age/Examination 4y (4 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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