Global Variome shared LOVD

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Phenotype #0000073815 Individual ID 00095415 Associated disease EJM Phenotype details see paper; ..., intellectual disability, no speech, hypotonia; seizures, 6m-epileptic spasms, 6m-8m-myoclonic seizures >100/day, 36m-generalised seizures; frequent infections, feeding problems, cranofacial anomalies, hypertelorism, bowed eyebrows, flat midface, long philtrum, thin upper lip, full cheeks, no clecft palate, no internal abnormaltities, no bilateral conductive hearing loss, no myopia, no strabismus, no hypothyreosis, brain Unilateral cerebellar cleft Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 00y06m Age/Onset - Phenotype/Onset - Protein - Owner name Hermann-Josef Lüdecke Database submission license No license selected Created by Hermann-Josef Lüdecke Date created 2017-01-16 10:52:36 +01:00 (CET) Date last edited 2020-07-25 17:40:37 +02:00 (CEST)

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