Phenotype #0000171434

Individual ID 00226309
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y06m
Diagnosis/Initial -
Age/Examination 03y (3 years)
Diagnosis/Definite -
Age/Diagnosis 01y07m
Phenotype/Onset Clonic convulsions (HP:0001250)
Phenotype details Severe handicap: hypotonia (HP:0001252), dystonia (HP:0001276), no head control, neurologic regression, muscle hypertonia (HP:0001276), macrocephaly (HP:0000256); CT: loss of cerebral volumen, white matter hypodensity; MRI: extensive white matter hypodensities and 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 11:52:03 +01:00 (CET)
Date last edited N/A

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