Phenotype #0000342225

Individual ID 00453567
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., borderline macrocephaly; moderate intellectual disability; unable to speak; hypotonia; Lennox-Gastaut syndrome; gait disturbance, unable to walk; no heart problems reported; kyphosis, abnormal behaviors, sleep disturbances, strabismus, recurrent infections
Inheritance Isolated (sporadic)
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-09-10 17:46:49 +02:00 (CEST)
Date last edited N/A

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