Global Variome shared LOVD

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Phenotype #0000318110 Individual ID 00427093 Associated disease microlissencephaly Diagnosis/Initial microlissencephaly Diagnosis/Definite NEDMCMS Phenotype details birth full term, weight 3200g, OFC -2SD; weight 10kg, height 90 cm, OFC -4SD; gross motor delay, no fine motor delay, no speech delay, normal social development; 3w-seizures, generalized tonic-clonic seizures (1/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 5y (5 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

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