Phenotype #0000352687

Individual ID	00467480
Associated disease	LIS
Diagnosis/Initial	lissencephaly
Diagnosis/Definite	LIS9
Phenotype details	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient equal to anterior gradient, thin lissencephaly cortical thickness (4-7 mm), hippocampal dysplasia, thin white matter; borderline thin anterior commissure, normal corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, severe narrowing of pons, wide pons/medulla, small base of pons, moderate-severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 29.0 kg (SD−4), height 137 cm (SD−4), OFC 47.7 cm (SD−5); global developmental delay; hypotonia; spasticity; not sitting; not walking; speech 3 words; severe intellectual disability; 5m-onset seizures, focal seizure with impaired awareness, focal tonic-clonic seizure, generalized tonic-clonic seizure; mixed dyskinesia; no vision abnormalities; esotropia
Inheritance	Isolated (sporadic)
Age/Examination	16y (16 years)
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