Global Variome shared LOVD

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Phenotype #0000352683 Individual ID 00467476 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 mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; weight 28 kg (SD+1), height 128 cm (SD0), OFC 53 cm (SD+0.7); global developmental delay; hypotonia; no spasticity; not sitting; not walking; speech 10 syllables; severe intellectual disability; 6m-onset seizures, seizures, infantile spasm, Lennox-Gastaut epilepsy syndrome with atonic, tonic, tonic-clonic, and myoclonic seizures; mixed dyskinesia; no vision abnormalities; abnormal eye movements; exotropia; impaired feeding (gastrostomy tube) Inheritance Isolated (sporadic) Age/Examination 7y6m (7 years, 6 months) 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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