Phenotype #0000330535

Individual ID	00440623
Associated disease	PVNH
Diagnosis/Initial	periventricular nodular heterotopia
Diagnosis/Definite	PVNH8
Phenotype details	microcephaly; no growth delay; motor delay; 4y-walk assisted; speech delay, no speech; intellectual disability; attention deficit hyperactivity disorder; 2y-dialeptic/focal seizure right arm, GTC; EEG abnormal; hypotonia, spasticity, ataxia; dyskinesia/dystonia; MRI brain thin corpus callosum; gyration abnormality, polymicrogyria (frontal and parietal), thin myelon, cystic structure frontal right, enlarged ventricles; high palate; previously conductive hearing loss, currently no problems; normal vision; no cardiac anomalies; rnormal espiratory system; normal gastrointestinal system; recurrent urinary tract infection since neonate; no skin/hair/nail anomalies; normal endocrine system; sleep disturbance, 1-3h awake during night time
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 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