Phenotype #0000079449

Individual ID 00065276
Associated disease HMLR1
Phenotype details Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), Beau’s lines (-HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), no macular dystrophy (HP:0007754)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 21y (21 years)
Age/Diagnosis 03y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Johan den Dunnen