Phenotype #0000357195

Individual ID 00472392
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite -
Phenotype details see paper; ..., mild motor delay, 5m-sit, 12m-walki; speech delay, only single spoken word, onverbal communication; independent ambulation; seizures; preserved reflexes, normal tone, no weakness, no spasticity, no dystonia, normal movements: 9m-MRI brain cerebral atrophy, reduced white matter volume, ventricular enlargement; patent foramen ovale, recurrent respiratory infections, laryngomalacia
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-02-09 14:23:44 +01:00 (CET)
Date last edited N/A

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