Global Variome shared LOVD

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

Phenotype #0000304705 Individual ID 00412714 Associated disease - Phenotype details weight (kg, standard deviation scores): 63.6 (+0.6); height (cm, standard deviation scores): 162.6 (−0.2); occipitofrontal circumference: not available; body mass index: 24 (+0.63); walking: 15-18m; speech delay: Yes; intellectual disability: mild (IQ 50-60); behavior: attention-deficit hyperactivity disorder; magnetic resonance imaging: normal; retinitis pigmentosa; brachydactyly: not available; other clinical findings: moderate eczema with severe skin-picki Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite syndromic intellectual disability with retinitis pigmentosa 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 2022-07-03 11:35:57 +02:00 (CEST) Date last edited N/A

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