Phenotype #0000340196

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451459
Associated disease	-
Phenotype details	Micropenis, unilateral chryptorchidism, few gluteal cafe-au-lait spot, developmental regression, autistic behavior
Diagnosis/Initial	Holocarboxylase synthetase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Holocarboxylase synthetase deficiency
Age/Examination	-
Age/Diagnosis	08y01m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-06 22:58:04 +02:00 (CEST)
Date last edited	2024-06-18 16:20:18 +02:00 (CEST)

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