Global Variome shared LOVD

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

Phenotype #0000204157 Individual ID 00266388 Associated disease ? Diagnosis/Initial lissencephaly Diagnosis/Definite - Phenotype details born 31w; OFC birth 25 (SD-2.0); short and sloped forehead, thick eyebrows, puffy eyelids, full lips, retromicrognathia; truncal hypotonia; brisk reflexes; spasticity; cortical blindness; normal auditory; severely delayed motor skills; severely delayed language; no autistic features; 5m-onset generalized seizures; abnormal EEG; 5m-MRI brain pachygyria, subcortical band, subependymal heterotopia, multiple subependymal cysts, delayed myelination, thincorpus callosum and brainstem Inheritance Familial, autosomal recessive Age/Examination - 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 International Created by Johan den Dunnen Date created 2019-10-25 13:06:56 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.