Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000318109 Individual ID 00427092 Associated disease microlissencephaly Diagnosis/Initial microlissencephaly Diagnosis/Definite NEDMCMS Phenotype details 4y-died (seizures); birth full term, weight 3300g, OFC -3SD; weight 17kg, height 112cm, OFC -3SD; gross motor delay, no fine motor delay, no speech delay, delayed social development; 2w-seizures, generalized tonic-clonic seizures (2/w), refractory, EEG multifocal spike/wave; lissencephaly spectrum; no cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; no cerebellar atrophy; no brainstem hypoplasia; ventriculomegly; reduced white matter; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; vision fixes/follows; hearing responds to noise; no dysmorphism Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-05 13:20:21 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.