Global Variome shared LOVD

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Phenotype #0000337140 Individual ID 00447947 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD54 Inheritance Isolated (sporadic) Phenotype details severe intellectual disability (HP:0001249; delayed speech and language development (HP:0000750); normal behavior (-HP:0100851); global developmental delay (HP:0001263); delayed gross motor development (HP:0002194); hypotonia (HP:0001252); abnormal facial shape (HP:0001999); abnormality of the digestive system (HP:0025031); growth abnormality (HP:0001507); visual impairment (HP:0000505); no seizures (-HP:0001250); microcephaly (HP:0000256) Age/Examination - 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 2024-02-03 16:36:02 +01:00 (CET) Date last edited N/A

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