Phenotype #0000166808

Individual ID 00218366
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y07m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite 01m
Age/Diagnosis -
Phenotype/Onset Cold followed by seizures (HP:0001250), athetosis (HP:0002305), spastic quadriplegia (HP:0002510)
Phenotype details Neonatal history: normal development for 07m, 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 10:49:54 +01:00 (CET)
Date last edited N/A

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