Phenotype #0000210155

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00275534
Associated disease	HPA
Diagnosis/Initial	hyperphenylalaninemia
Diagnosis/Definite	HPANBH4
Phenotype details	hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; autistic features
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-06 19:22:48 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.