Phenotype #0000258199

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00362829
Associated disease	NPA
Phenotype details	HP:0002240 Hepatomegaly HP:0001744 Splenomegaly HP:0002376 Developmental regression HP:0002540 Inability to walk
Diagnosis/Initial	niemann-pick typeA
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	niemann-pick typeA
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	type A
Protein	-
Owner name	Rezvan Abtahi
Database submission license	No license selected
Created by	Rezvan Abtahi
Date created	2021-04-23 17:35:52 +02:00 (CEST)
Date last edited	2021-04-26 19:15:25 +02:00 (CEST)

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