Global Variome shared LOVD

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Phenotype #0000300216 Individual ID 00408088 Associated disease - Phenotype details 9 years old boy with small testicles, micropenis, and right-side undescended testes that required orchidopexy at age of 4 years. His endocrine work up showed pre-pubertal gonadotropins and testosterone level. His parents were cousins and he had a similarly affected brother and healthy brother and sister. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite 5 alpha reductase deficiency Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-13 19:19:00 +02:00 (CEST) Date last edited N/A

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