Global Variome shared LOVD

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Phenotype #0000073817 Individual ID 00095418 Associated disease EJM Phenotype details see paper; ..., intellectual disability, sit-36m, speech nearly absent, hypotonia; seizures, no epileptic spasms, 24m-myoclonic seizures >50/day, 24m-36m generalised seizures; no frequent infections, feeding problems, cranofacial anomalies, marked eyebrows, large nose with bulbous tip, long philtrum, thin upper lip, clecft palate, no internal abnormalities, bilateral conductive hearing loss, myopia, strabismus, no hypothyreosis, no brain abnormalities Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y01m Phenotype/Onset - Protein - Owner name Hermann-Josef Lüdecke Database submission license No license selected Created by Hermann-Josef Lüdecke Date created 2017-01-16 11:12:43 +01:00 (CET) Date last edited 2020-07-25 17:38:02 +02:00 (CEST)

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