Global Variome shared LOVD

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Phenotype #0000352690 Individual ID 00467483 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; normal anterior commissure, thin mild diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem normal tectume, normal pons, subtle wide pons/medulla, normal base of pons, no pontine hypoplasia; cerebellum normal vermis, normal hemisphere, no foliar dysplasia; weight 20.4 kg (SD+0.7), height 107.9 cm (SD−0.1), OFC 51.3 cm (SD0); mild developmental delay; no hypotonia; no spasticity; 7m-sit; 1y6m-walk; 1y6m-speech; severe intellectual disability; 4y3m-onset seizures, focal seizure with impaired awareness, generalized tonic-clonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-13 21:41:36 +02:00 (CEST) Date last edited N/A

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