Phenotype #0000232736

Individual ID	00306913
Associated disease	GM1G1
Phenotype details	HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002509 Limb hypertonia HP:0000817 Poor eye contact HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0001250 Seizures HP:000320 Skeletal muscle atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	00y10m
Age/Onset	00y10m
Phenotype/Onset	-
Protein	-
Owner name	Sarah Snanoudj
Database submission license
Created by	Sarah Snanoudj
Date created	2020-07-23 13:22:15 +02:00 (CEST)
Date last edited	2020-07-27 14:35:35 +02:00 (CEST)

Global Variome shared LOVD