Phenotype #0000171344

Individual ID 00226219
Associated disease MPS3C
Phenotype details Hyperactivity (HP:0000752), intelectual disability, progressive (HP:0006887), hepatomegaly (HP:0002240)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 12y (12 years)
Age/Diagnosis 10y
Age/Onset 03y
Phenotype/Onset Seizures (HP:0001250), speech delay (HP:0000750)
Protein -
Owner name Carla Martins
Database submission license No license selected
Created by Carla Martins
Date created 2019-03-04 13:34:33 +01:00 (CET)
Date last edited 2019-03-05 08:21:35 +01:00 (CET)

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