Phenotype #0000070592

Individual ID 00092257
Associated disease MCAHS2;GPIBD4
Phenotype details profound IDD, dysmorphisms, infantile spasms, contractures, brain intramyelin edema, mixed hearing loss,liver dysfunction; lipoprotein lipase deficiency / mitochondrial complex I and IV deficiency / elevated alkaline phosphatase; Maple Syrup Disease-like features on brain MRI
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-12-16 19:09:22 +01:00 (CET)
Date last edited N/A

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