Global Variome shared LOVD

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Phenotype #0000318111 Individual ID 00427094 Associated disease microlissencephaly Diagnosis/Initial microlissencephaly Diagnosis/Definite NEDMCMS Phenotype details 5y-died (pneumonia); birth full term, weight 3100g, OFC -1SD; weight 11kg, height 92cm, OFC -4SD; gross motor delay, no fine motor delay, speech delayed (babbles), normal social development; 1m-seizures, generalized tonic-clonic seizures (1/m), refractory, EEG multifocal spike/wave; 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 4y (4 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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