Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000304703 Individual ID 00412712 Associated disease - Phenotype details weight (kg, standard deviation scores): not available; height (cm, standard deviation scores): not available; occipitofrontal circumference: 57 (95th centile); body mass index: not available; walking: 15m; speech delay: yes; intellectual disability: mild; behavior: dyspraxia; neuroimaging: not performed; retinitis pigmentosa; brachydactyly: not available Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite syndromic intellectual disability with retinitis pigmentosa Age/Examination 31y (31 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 2022-07-03 11:35:57 +02:00 (CEST) Date last edited N/A

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