Global Variome shared LOVD

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Phenotype #0000278886 Individual ID 00385103 Associated disease NDD Diagnosis/Initial hereditary spastic paraparesis Diagnosis/Definite PCH2E Phenotype details see paper; ..., moderate global developmental delay (HP:0001263), mild/moderate intellectual disability (HP:0001249), no microcephaly (-HP:0000252), progressive spastic paraparesis (HP:0001257), no irritability (-HP:0000737, no optic atrophy (-HP:0001138); normal brain morphology (-HP:0012443); no cholestasis (-HP:0001396); no failure to thrive (-HP:0001508) Inheritance Familial, autosomal 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 2021-10-07 09:54:47 +02:00 (CEST) Date last edited N/A

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