Phenotype #0000233303

Global Variome shared LOVD

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

Individual ID	00307878
Associated disease	CLN7
Phenotype details	Hearing impairment, Optic atrophy, Dementia, Intellectual disability, Failure to thrive, Abnormal facial shape, Developmental regression, Scoliosis, Multiple joint contractures, Respiratory failure, Myoclonic spasms, Gastrostomy tube feeding in infancy, Brain atrophy, Neurodevelopmental delay, Abnormality of movement
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	18y05m
Age/Onset	?
Phenotype/Onset	-
Protein	-
Owner name	Corina-Marcela Rus
Database submission license	No license selected
Created by	Corina-Marcela Rus
Date created	2020-08-20 02:52:40 +02:00 (CEST)
Date last edited	2020-08-23 15:23:27 +02:00 (CEST)