Phenotype #0000359693

Individual ID	00474900
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	DEDHIL
Phenotype details	see paper; ..., no prenatal anomalies; early onset absence epilepsy; rare isolated myoclonic seizures; learning difficulties, borderline IQ; myopia; no hearing loss; no cardiac problems; no respiratory problems; no gastrointestinal problems, no feeding difficulties; incontinence (8y-resolved with seizure control); no hematologic problems; no endocrine problems; no musculoskeletal problems; no immunological problems; normal skin; no facial dysmorphism; normal hands, normal feet
Inheritance	Isolated (sporadic)
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-27 14:20:42 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD