NDUFB11

NADH:ubiquinone oxidoreductase subunit B11
OMIM: 300403
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
R-numbers: R21, R412
Signed-off version 4.0
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, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952, Cardiomyopathy, Agenesis of corpus callosum (ACC)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
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 3.0
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:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
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
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.0
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
R-numbers: R63
Signed-off version 3.105
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