Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000334628 Individual ID 00445393 Associated disease NPC1 Phenotype details fasciculations, spastic dysarthria, mild cognitive impairment, limb apraxia, apraxia of eyelid opening, frontal release signs Diagnosis/Initial ? Inheritance Familial Diagnosis/Definite ? Age/Examination ? Age/Diagnosis ? Age/Onset 64y Phenotype/Onset speech apraxia Protein MAPT Owner name PROW_Groep_25 Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by PROW_Groep_25 Date created 2024-01-13 12:27:47 +01:00 (CET) Date last edited 2024-02-23 16:30:54 +01:00 (CET)

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