Phenotype #0000259187

Individual ID 00363848
Associated disease HPP
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details (+) Edema,(+) Seizure,(+) Encephalopathy,(+) Premature birth,(+) Hypophosphatemia,(+) Lactic acidosis,(+) Aplasia/Hypoplasia involving bones of the thorax,(+) Aplasia/hypoplasia affecting bones of the axial skeleton,(+) Abnormality of the mitochondrion,(+) Abnormal nervous system physiology,(+) Abnormal blood phosphate concentration
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis 02y
Age/Onset -
Phenotype/Onset -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2021-04-30 11:07:17 +02:00 (CEST)
Date last edited 2021-04-30 11:32:01 +02:00 (CEST)

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