Global Variome shared LOVD

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Phenotype #0000313566 Individual ID 00422352 Associated disease - Phenotype details family history of retinal disease: mother; family history of microcephaly: mother; head circumference<1st percentile (40 cm at 21m); age at first visit (years): 2age at last visit (years): –; follow up (years): 0; birth weight (kg): 2.1; intellectual disability: ; epilepsy: yes; growth retardation: not available; lymphedema: no; additional symptoms: congenital hip dislocation, constipati Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite familial exudative vitreoretinopathy Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-09 18:36:37 +01:00 (CET) Date last edited N/A

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