Global Variome shared LOVD

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

Phenotype #0000304701 Individual ID 00412710 Associated disease - Phenotype details weight (kg, standard deviation scores): 8.6 (−2.2); height (cm, standard deviation scores): 78.5 (−0.7); occipitofrontal circumference: 47 (−0.92); body mass index: 14 (−2.5); walking: 22m; speech delay: yes; intellectual disability: mild; behavior: hyperactivity; neuroimaging: not available; retinitis pigmentosa; brachydactyly; other clinical findings: proximally placed thumbs, short fifth fingers, pes planus, frontal bossing, almond-shaped eyes, and inverted Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite syndromic intellectual disability with retinitis pigmentosa Age/Examination 1y6m (1 year, 6 months) 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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