Phenotype #0000166554

Individual ID 00218108
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y02m
Diagnosis/Initial -
Age/Examination 03y (3 years)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset Developmental delay (HP:0001263), hypotonia (HP:0008947), seizures (HP:0001250), feeding problems (HP:0011968);
Phenotype details Neonatal history: slow early development, macrocephaly (HP:0000256); 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 2019-01-22 18:20:41 +01:00 (CET)
Date last edited 2019-01-24 09:44:05 +01:00 (CET)

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