Phenotype #0000166811

Individual ID 00218369
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y05m
Diagnosis/Initial -
Age/Examination 03y (3 years)
Diagnosis/Definite -
Age/Diagnosis 00y06m
Phenotype/Onset Lethargy (HP:0001254), poor sucking (HP:0002033), cold followed by ophisthotonus (HP:0002179), posturing (HP:0002533), episodes of fisting and scissoring of legs
Phenotype details Neonatal history: normal for 05m; Present phenoytpe: Severely affected: spastic quadriplegia (HP:0002510), retardation (HP:0001249), dystonia (HP:0001276), seizures, decreased truncal tone (HP:0008936), increased limb tone, involuntary movements (HP:0004305), posturing (HP:0002533), height & weight <5th percentile, G-tube feeding (HP:0011471)
Protein -
Biochem -
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-24 11:32:56 +01:00 (CET)
Date last edited N/A

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