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Summary
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (IMDDHH)
617744
OMIM = Online Medalian Inheritance of Men
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2q31.2
very rare
autosomal dominant
mutation in the NFE2L2 gene
symptoms
cardiomyopathy
congenital heart defect
defect of walking, running, rising or climbing
developmental delay
failure to thrive
growth retardation, poor growth
immunodeficiency
infections (respiratory tract/system)
infections (severe or recurrent)
intellectual disability/intellectual developmental disorder (ID/ IDD)
leukoencephalopathy
myelination, incomplete, hypomyelination
onset, childhood
onset, infancy
recurrent or intermittent skin defect
short stature
speech development, delayed, abnormal
laboratory finding
L-Cysteine +€mol/lplasma
Homocysteine +€mol/lplasma
MRI, brain, abnormalities -
L-Lactic acid mmol/lplasma
Creatinine +€mol/lserum
Literature
Itsumura N,et al.Novel mutations in SLC30A2 involved in the pathogenesis of transient neonatal zinc deficiencyPediatr Res804586-5942016