Global Variome shared LOVD

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

Phenotype #0000325793 Individual ID 00435608 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details developmental delay; severe intellectual disability; microcephaly (-2.14); MRI brain abnormal; no neuropsychiatric disorders; seizures; drug-resistant epilepsy; axial hypotonia; appendicular hypertonia; increased reflexes; no ataxia; axonal neuropathy; no dysmorphic features; no heart disease; short stature; failure to thrive; recurrent infections Inheritance Isolated (sporadic) Age/Examination 16y (16 years) 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 2023-08-06 10:54:39 +02:00 (CEST) Date last edited N/A

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