Global Variome shared LOVD

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Phenotype #0000310003 Individual ID 00418704 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NDD;MPS4A Phenotype details speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; cryptorchidism, enuresis; short stature; mild features MPS4A (skeletal phenotype) caused by GALNS variants Inheritance Familial, X-linked recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-04 17:07:48 +02:00 (CEST) Date last edited 2023-01-10 14:24:16 +01:00 (CET)

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