Phenotype #0000051338

Individual ID 00065231
Associated disease SNHL
Phenotype details Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), Severe sensorineural hearing impairment (HP:0008625), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597), no retinal pigmentation (-HP:0007703), no macular dystrophy (-HP:0007754)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis 02y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Date created 2016-05-23 16:15:32 +02:00 (CEST)
Date last edited 2017-03-19 15:54:27 +01:00 (CET)

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