Phenotype #0000270775

Individual ID	00375561
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	VERBRAS
Phenotype details	no intellectual disability; autism; no motor delay; language delay; no facial dysmorphism; no short stature (<-2SD); no low weight (<-2SD); no feeding difficulties/gastro-oesophageal reflux disease; no seizures; no hypotonia; normal CK; no chondrodysplasia; no scoliosis; no cardiac abnormalities; no renal abnormalities; no structural brain abnormalities
Inheritance	Isolated (sporadic)
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Zeynep Tümer
Database submission license
Created by	Zeynep Tümer
Date created	2021-06-11 10:15:24 +02:00 (CEST)
Date last edited	2021-06-14 21:47:13 +02:00 (CEST)

Global Variome shared LOVD