Phenotype #0000305707

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00413742
Associated disease	-
Phenotype details	Optic nerve atrophy ; Severe growth retardation, hypotonia, developmental delay. Seizures; suspected CNS MAS. Abnormal brain MRI (end stage cerebral damage; hemorrhage, volume loss and leukomalacia)
Diagnosis/Initial	syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-07-22 03:34:11 +02:00 (CEST)
Date last edited	N/A

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