NDUFB11

NADH:ubiquinone oxidoreductase subunit B11
OMIM: 300403
PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Linear skin defects with multiple congenital anomalies 3, microphthalmia with linear skin defects syndrome, histiocytoid cardiomyopathy, Isolated complex I deficiency
R-numbers: R353
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Isolated complex I deficiency, Linear skin defects with multiple congenital anomalies 3, histiocytoid cardiomyopathy, microphthalmia with linear skin defects syndrome
R-numbers: R63
Signed-off version 1.17
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 30, 301021, Linear skin defects with multiple congenital anomalies 3, 300952