Phenotype #0000278764

Individual ID	00384982
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	NERIB
Phenotype details	see paper; ..., 15m-failure to thrive, microcephaly, MRI brain changes, cerebral palsy, developmental delay, variable immunodeficiency,severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, pathologic bone fractures; responded clinically to supplemental administration of excess biotin, pantothenic acid, and lipoate with improvement in clinical findings.
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-06 15:28:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD