Global Variome shared LOVD

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Phenotype #0000237057 Individual ID 00311052 Associated disease glycine encephalopathy Diagnosis/Initial arthrogryposis and severe neurological impairment Diagnosis/Definite GLYT1 encephalopathy Phenotype details neonatal onset, respiratory failure, severe hypotonia at birth that progressed to limb hypertonicity, absent neonatal reflexes, startle-like responses provoked by sudden loud sounds and tactile stimulation, severe global developmental delay, dysmorphic features, arthrogryposis multiplex congenita Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Irene Mademont Soler Database submission license No license selected Created by Johan den Dunnen Date created 2020-09-28 12:44:58 +02:00 (CEST) Date last edited N/A

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