Phenotype #0000350600

Individual ID 00464612
Associated disease -
Phenotype details HP:0011968 feeding difficulties, HP:0002013: vomiting,  HP:0002020: Gastroesophageal reflux , HP:0000952: Jaundice, HP:0001903: anemia,  HP:0001875: neutropenia,  HP:0001873: Thrombocytopenia,  HP:0001250: seisure,  HP:0002181: cerebral edema,  HP:0001336: Myoclonus, HP:0001942: metabolic acidosis, HP:0031962: Elevated serum anion gap,  HP:0001987: Hyperammonemia, HP:0001943: Hypoglycemia, HP:0003074: Hyperglycemia,
Diagnosis/Initial Propionic acidemia
Inheritance Familial, autosomal recessive
Diagnosis/Definite Propionic acidemia
Age/Examination 00y02m04d (2 months, 4 days)
Age/Diagnosis 00y00m04d
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2025-04-01 21:52:55 +02:00 (CEST)
Date last edited 2025-04-02 09:16:35 +02:00 (CEST)

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