Global Variome shared LOVD

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Phenotype #0000352685 Individual ID 00467478 Associated disease LIS Diagnosis/Initial lissencephaly Diagnosis/Definite LIS9 Phenotype details see paper; ..., lissencephaly, pachygyria diffuse, posterior gradient more severe than anterior gradient, thick lissencephaly cortical thickness (10-15 mm), hippocampal dysplasia, thin white matter; thin anterior commissure, thin diffuse corpus callosum, normal hippocampal commissure, normal optic chiasm; brain stem thick tectume, severe narrowing of pons, wide pons/medulla, absent base of pons, severe pontine hypoplasia; cerebellum mild vermis hypoplasia, mild hemisphere hypoplasia, foliar dysplasia; birth OFC 31 cm (SD−1); weight 14 kg (SD−3), height 116 cm (SD−1), OFC 47 cm (SD+0.5); global developmental delay; hypotonia; no spasticity; not sitting; not walking; no speech; severe intellectual disability; 3m-onset seizures, myoclonic seizure; no dyskinesia; no vision abnormalities; normal eye movements; no strabismus; no feeding abnormality Inheritance Isolated (sporadic) Age/Examination 7y (7 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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