Global Variome shared LOVD

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

Phenotype #0000341679 Individual ID 00453034 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details severe intellectual disability, delayed developmental milestones with motor delay, speech problems, postnatal microcephaly, hypotonia, aggressive behaviour, spastic paraplegia (one patient) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Muhammad Umair Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-08-15 18:41:07 +02:00 (CEST) Date last edited N/A

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