Phenotype #0000053268

Individual ID 00072286
Associated disease HMLR1
Phenotype details Heimler Syndrome patient; sensorineural hearing loss (HP:0000407), amelogenesis imperfecta (HP:0000705), nail abnormalities (HP:0001597)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Glenda Beaman
Database submission license No license selected
Created by Johan den Dunnen