Phenotype #0000166809

Individual ID 00218367
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y00m12d
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 00y00m13d
Phenotype/Onset Seizures (HP:0001250), retardation, truncal hypotonia (HP:0008936), limb spasticity (HP:0001257), athetosis (HP:0002305), dystonia (HP:0001276)
Phenotype details Neonatal history:hypotonic at age 14d (HP: 0001319), macrocephaly (HP:0004488); Phenotype before death: retardation (HP:0001249); Prior to death development of seizures, decreased truncal muscle tone (HP:0008936), increased limb tone and involuntary movements (HP:0004305)
Protein -
Biochem -
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-24 11:06:40 +01:00 (CET)
Date last edited N/A

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