Phenotype #0000292313

Individual ID 00231388
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDLIB
Inheritance Isolated (sporadic)
Phenotype details developmental delay; intellectual disability; tonic-clonic seizures; autism spectrum disorder; stereotyped hand movements; no speech; unable to walk
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-01-17 14:22:49 +01:00 (CET)
Date last edited N/A

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