Global Variome shared LOVD

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Phenotype #0000355618 Individual ID 00470722 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; failure to thrive; no hypotonia; 14m-sit; 18m-walk; speech 18m-first words, little speech; mild intellectual disability; no autism spectrum disorder; behaviour sometimes screaming; 1m-epilepsy; EEG normal; MRI white matter abnormalities; frontal bossing, high frontal hairline, posteriorly rotated ears; no skeletal abnormalities; normal kidney; cryptorchidism Age/Examination 7y (7 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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