Phenotype #0000171433

Individual ID 00226308
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y09m
Diagnosis/Initial -
Age/Examination 13y (13 years)
Diagnosis/Definite -
Age/Diagnosis 12y
Phenotype/Onset Seizures (HP:0001250), vomiting (HP:0002013), Reye like episode
Phenotype details Severe handicap: hypotonia (HP:0001252), dystonia (HP:0001276), no head control, psychomotor involution, spastic tetraparesis (HP:0001285); CT: fronto-temporal atrophy; MRI: bilateral hyperintensity in putamina and caudati, enlarged subarachnoid spaces
Protein -
Biochem -
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-03-07 11:41:59 +01:00 (CET)
Date last edited N/A

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