Phenotype #0000203486

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00265701
Associated disease	arthrogryposis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	arthrogryposis multiplex
Age/Examination	02y (2 years)
Diagnosis/Definite	Congenital titinopathy
Age/Diagnosis	-
Age/Onset	00y00m00d00h
Phenotype/Onset	-
Phenotype details	Hypotonia. General developmental delay. NG tube fed. Difficult airway grade 3. Contractures involving fingers, wrists, ankles, elbows, knees, shoulders, hips. Severe restrictive lung disease, retrognathia, needing BIPAP support, recurent chest infections.
Protein	-
Owner name	Sandra Cooper
Database submission license	No license selected
Created by	Sandra Cooper
Date created	2019-10-01 03:29:48 +02:00 (CEST)
Date last edited	2019-10-11 14:59:40 +02:00 (CEST)