Global Variome shared LOVD

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Phenotype #0000346640 Individual ID 00458204 Associated disease MPS Diagnosis/Initial severe global neurodevelopmental delay Diagnosis/Definite MPS2 Phenotype details see paper; ..., poor latch, weak suck required bottle feedings; no epilepsy; severe fine motor delay, gross motor delay, language delay, intellectual disability; coarse face, prominent forehead, large ears, clear corneas, wide-spaced teeth, short thick neck; height/weight/OFC >97th percentile; severe generalized hypotonia with normal muscle bulk/decreased strength, hyperactive reflexes all limbs, ankle clonus, spastic paraparesis Inheritance Isolated (sporadic) Age/Examination 00y27m (27 months) 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 2024-12-08 16:15:53 +01:00 (CET) Date last edited N/A

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