Phenotype #0000203083

Individual ID	00265280
Associated disease	HL
Phenotype details	the patient was a seven-year-old female presenting with microcephaly, intellectual disability (mild mental retardation), bilateral sensorineural hearing loss and speech difficulty.
Diagnosis/Initial	Non syndromic hearing loss
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Non syndromic hearing loss
Age/Examination	07y? (approximately 7 years)
Age/Diagnosis	07y?
Age/Onset	?
Phenotype/Onset	-
Protein	TMC1
Owner name	Ehsan Razmara
Database submission license	No license selected
Created by	Ehsan Razmara
Date created	2019-09-19 06:40:26 +02:00 (CEST)
Date last edited	2019-09-20 12:02:55 +02:00 (CEST)

Global Variome shared LOVD