Global Variome shared LOVD

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

Phenotype #0000175601 Individual ID 00235339 Associated disease HSD10MD Inheritance Familial, X-linked Diagnosis/Initial - Age/Examination - Diagnosis/Definite HSD10D Age/Onset 00y06m Phenotype/Onset progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270) Phenotype details elevation of 2-methyl-3-hydroxybutyrate (94; normal <18 mmol/mol creatinine) and tiglylglycine (74; normal <5 mmol/mol creatinine) Enzyme/Activity - Protein - Age/Diagnosis 06y Owner name Sebastien Levesque Database submission license No license selected Created by Sebastien Levesque Date created 2019-05-22 19:28:00 +02:00 (CEST) Date last edited 2020-06-05 18:43:39 +02:00 (CEST)

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