Global Variome shared LOVD

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

Phenotype #0000203179 Individual ID 00265387 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial arthrogryposis and hypotonia Age/Examination 00y14m (14 months) Diagnosis/Definite Congenital titinopathy Age/Diagnosis - Age/Onset 00y00m00d00h Phenotype/Onset - Phenotype details Generalized hypotonia (axial is worse) with head lag. When sitting with support tries to grab objects with both hands. Extends both knees. Doesn’t bear weight. Multiple contractures, Required resuscitation including ventilation, compressions, and epinephrine. She was placed on cooling protocol and remained in the NICU for 8 days. Weak suck, later difficulties moving food to the back of her mouth Protein - Owner name Sandra Cooper Database submission license No license selected Created by Sandra Cooper Date created 2019-09-24 10:09:01 +02:00 (CEST) Date last edited 2019-09-27 10:45:48 +02:00 (CEST)

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