Phenotype #0000318113

Individual ID 00427096
Associated disease microlissencephaly
Diagnosis/Initial microlissencephaly
Diagnosis/Definite NEDMCMS
Phenotype details birth-36w, weight 2900g, OFC -2SD; weight 7kg, height 65cm, OFC -4SD; no gross motor delay, no fine motor delay, speech delayed (babbles), normal social development; 6w-seizures, generalized tonic-clonic seizures (2/m), refractory, EEG multifocal spike/wave; severe intellectual disability; hypertonia; no hypotonia; Increased deep tendon reflexes; spastic tetraplegia; no ataxia; EMG normal; vision fixes/follows; hearing responds to noise; no dysmorphism
Inheritance Familial, autosomal recessive
Age/Examination 1y (1 year)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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