Phenotype #0000313572

Individual ID 00422358
Associated disease -
Phenotype details family history of retinal disease: sister; family history of microcephaly: sister; head circumference<1st percentile (45 cm at 12y); age at first visit (years): 2age at last visit (years): 17; follow up (years): 15; birth weight (kg): 2.89; intellectual disability: ; epilepsy: no; growth retardation: yes; lymphedema: no; additional symptoms: wide nose with broad nasal root, downslanting palpebral fissures, fifth finger clinodactyly, constipation, aggressive and self-injurious behaviors
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite familial exudative vitreoretinopathy
Age/Examination 17y (17 years)
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 2022-11-09 18:36:37 +01:00 (CET)
Date last edited N/A

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