Phenotype #0000245381

Individual ID 00326918
Associated disease ?
Diagnosis/Initial hypogonadotropic hypogonadism
Diagnosis/Definite HLD8
Phenotype details see paper; ..., normosmic idiopathic hypogonadotropic hypogonadism; delayed puberty, delayed deepening of voice; normal size testes; horizontal nystagmus, pectus excavus
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis 20y
Age/Onset -
Phenotype/Onset normosmic idiopathic hypogonadotropic hypogonadism
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-01-16 14:15:47 +01:00 (CET)
Date last edited N/A

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