Phenotype #0000352682

Individual ID	00467475
Associated disease	LIS
Diagnosis/Initial	lissencephaly
Diagnosis/Definite	LIS9
Phenotype details	see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thin lissencephaly cortical thickness (4-7 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, tiny base of pons, severe pontine hypoplasia; cerebellum moderate vermis hypoplasia, moderate hemisphere hypoplasia, foliar dysplasia; birth OFC 36 cm (SD+1.1); weight 13.7 kg (SD−1.7), height 105 cm (SD−0.5), OFC 50.5 cm (SD0); global developmental delay; hypotonia; no spasticity; 1y-sit; 3y-walk; speech >40 words; severe intellectual disability; 5m-onset seizures, seizures, infantile spasm; hand flapping; cortical visual impairment, left optic-nerve hypoplasia; abnormal eye movements; left exotropia; no feeding abnormality; ventriculoseptal defect
Inheritance	Isolated (sporadic)
Age/Examination	5y (5 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