Phenotype #0000204159

Individual ID 00266390
Associated disease ?
Diagnosis/Initial lissencephaly
Diagnosis/Definite -
Phenotype details born at term; OFC birth 35 (SD+0.4); OFC 46 (SD-4.0); smooth philtrum, prominent ears; no truncal hypotonia; normal reflexes; no spasticity; myopia, astigmatism; normal auditory; delayed motor skills; delayed language; no autistic features; generalized seizures; EEG paroxysmal epileptiform activity localized to central area; 8y-MRI brain pachygyria, delayed myelination, thin corpus callosum
Inheritance Familial, autosomal recessive
Age/Examination 4y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2019-10-25 13:06:56 +02:00 (CEST)
Date last edited N/A

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