Phenotype #0000308349

Individual ID 00416629
Associated disease MCLMR
Inheritance Isolated (sporadic)
Phenotype details best corrected visual acuity right, left eye: 0.25,0.5; refraction right, left eye: +4/ -1 x 180 deg, +4.0/ -1.5 x 180 deg; ocular fundus: lacunae of chorioretinal atrophy, macular pigment mottling, attenuated vessels inferiorly; electrodiagnostic testing: pattern electroretinogram evidence of severe macular dysfunction both eyes
Diagnosis/Initial -
Age/Examination 7y (7 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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