Global Variome shared LOVD

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Phenotype #0000079445 Individual ID 00065272 Associated disease HMLR1 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), retinal pigmentation (HP:0007703), no macular dystrophy (-HP:0007754) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 01y06m Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Johan den Dunnen Date created 2017-03-19 16:25:09 +01:00 (CET) Date last edited N/A

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