Phenotype #0000330530

Individual ID	00440618
Associated disease	PVNH
Diagnosis/Initial	periventricular nodular heterotopia
Diagnosis/Definite	PVNH8
Phenotype details	no microcephaly; growth delay; motor delay; 23m-walk; speech delay, 18m-first words; moderate intellectual disability; normal behaviour; no seizures; EEG normal; hypotonia; MRI brain 16m-thin corpus callosum; slight epicanthal folds, prominent forehead, short nose, anteverted nares, rounded nasal tip, flatter nasal bridge, prominent philtrum; no hearing loss; normal vision; no cardiac anomalies; rnormal espiratory system; persistent elevation of ALT/AST, G-tube nutrition (difficulty swallowing); normal urogenital system; no skin/hair/nail anomalies; small endocrine system; sleep disturbance, severe obstructive sleep apnea, improved by tonsillectomy, adenoidectomy, supraglottaplasty; pectus deformity of chest
Inheritance	Isolated (sporadic)
Age/Examination	25m
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