Disease #02028 (HPABH4D (hyperphenylalaninemia, BH4-deficient, type D (HPABH4D)), OMIM:264070)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	HPABH4D
Name	hyperphenylalaninemia, BH4-deficient, type D (HPABH4D)
OMIM ID	264070
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	PCBD1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2020-01-06 17:34:29 +01:00 (CET)

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