Global Variome shared LOVD

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Phenotype #0000229860 Individual ID 00302778 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details severe intellectual disability; no speech; not walking; no epilepsy; no autistic features; no microcephaly; no macrocephaly; MRI brain ventriculomegaly and increased T2 signal in white matter, thin corpus callosum; hypotonic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; no apneas, no hypoventilation Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-01 10:33:11 +02:00 (CEST) Date last edited N/A

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