Phenotype #0000088106

Individual ID	00112542
Associated disease	-
Phenotype details	3.5y first speech problems; 6y hospitalized for first attack with severe tantrum, confusion, gait disturbances, loss of speech abilities, physical examination showed upward paralysis, aphasia, bilateral flask paralysis upper/lower extremities and deep tendon reflexes. Cranial CT, MRI, EMG and fundoscopic findings were normal; intolerance for protein-rich foods, presented hyperornithinemia, hyperammonemia, homocitrullinuria
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Nagehan Ersoy Tunali
Database submission license	No license selected
Created by	Nagehan Ersoy Tunali
Date created	2013-11-20 00:13:51 +01:00 (CET)
Date last edited	2014-01-21 08:53:18 +01:00 (CET)

Global Variome shared LOVD