Phenotype #0000350487

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00464458
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	NDPACX
Inheritance	Familial, X-linked
Phenotype details	see paper; ..., learning problems; 48y-difficulty fine motor skills right hand, gait became slower; bradykinesia, rigidity, exaggerated deep tendon reflexes limbs, predominately right side; conjugate, bilateral limitation upgaze,downgaze eye movements
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-03-17 11:44:48 +01:00 (CET)
Date last edited	N/A

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