Global Variome shared LOVD

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Phenotype #0000313573 Individual ID 00422359 Associated disease - Phenotype details family history of retinal disease: brother; family history of microcephaly: brother; head circumference<1st percentile (46.5 cm at 17y); age at first visit (years): 9age at last visit (years): 24; follow up (years): 15; birth weight (kg): 3.06; intellectual disability: ; epilepsy: no; growth retardation: yes; lymphedema: yes; additional symptoms: broad, depressed nasal bridge, mild micrognathia, upslanting palpebral fissures, high arched palate, bifid uvula, secondary amenorrhea, urinary incontinence, constipation, mild kyphosis and lordosis, multiple pigmented nevi, increased muscle tone, decreased strength Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite familial exudative vitreoretinopathy Age/Examination 24y (24 years) 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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