Phenotype #0000352689

Individual ID	00467482
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), subtle hippocampal dysplasia, thin white matter; thin anterior commissure, normal 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 no vermis hypoplasia, no hemisphere hypoplasia, foliar dysplasia; birth OFC 33.5 cm (SD+0.4); weight 10.0 kg (SD−1.6), height 82.5 cm (SD−1.6), OFC 47.2 cm (SD−0.4); global developmental delay; no hypotonia; no spasticity; 1y-sit; 3y-walk with support; no speech; severe intellectual disability; 5y-onset seizures, myoclonic seizure, generalized tonic-clonic seizure; hand waving; eye movements abduction limited (ocular abduction limited to half normal excursion); no feeding abnormality
Inheritance	Isolated (sporadic)
Age/Examination	2y6m (2 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