Global Variome shared LOVD

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

Phenotype #0000318115 Individual ID 00427098 Associated disease microlissencephaly Diagnosis/Initial microlissencephaly Diagnosis/Definite NEDMCMS Phenotype details birth full term, weight 3100g, OFC -2SD; weight 12kg, height 85cm, OFC -3SD; no gross motor delay, no fine motor delay, speech delayed, delayed social development; 2m-seizures, generalized tonic-clonic seizures (2/m), refractory, EEG multifocal spike/wave; lissencephaly spectrum; cerebral mantle thickening; no subcortical band heterotopia; corpus callosum hypogenesis; cerebellar atrophy; 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 6y (6 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.