Phenotype #0000330523

Individual ID	00440611
Associated disease	PVNH
Diagnosis/Initial	periventricular nodular heterotopia
Diagnosis/Definite	PVNH8
Phenotype details	no microcephaly; no growth delay; motor delay; 18m-walk; speech delay, 24m-first words; mild intellectual disability; attention deficit hyperactivity disorder; 3y11m-one tonic-clonic seizure; EEG abnormal due to focal slowing over the right frontoventral temporal region; no hypotonia, no spasticity, no ataxia; MRI brain 3y11m-thin corpus callosum, no splenium; possible focal cortical malformation (L central sulcus and precentral gyrus), no evidence of pachygyria.; morphology normal; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; normal urogenital system; no skin/hair/nail anomalies; normal endocrine system; no sleep disturbance
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-05 11:38:45 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD