Global Variome shared LOVD

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Phenotype #0000305204 Individual ID 00413223 Associated disease - Phenotype details progressive deterioration of central vision with later development of difficulties with night vision; enamel defect amelogenesis imperfecta; dental examination: dentition was thin layer in morphology with a generally yellow brown color in permanent teeth; enamel of the teeth almost absent, but the exposed dentin was not sensitive; no other pathological signs and no mental delay Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Jalili Syndrome Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset nystagmus, photophobia and reduced visual acuity Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-12 14:25:39 +02:00 (CEST) Date last edited N/A

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