Phenotype #0000352684

Individual ID	00467477
Associated disease	LIS
Diagnosis/Initial	lissencephaly
Diagnosis/Definite	LIS9
Phenotype details	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 13.5 kg (SD+1.7), height 103 cm (SD−1), OFC 45.5 cm (SD−1); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, SE, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; cortical visual impairment; normal eye movements; impaired feeding (gastrostomy tube)
Inheritance	Isolated (sporadic)
Age/Examination	5y6m (5 years, 6 months)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-13 21:41:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD