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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 MC1DN28
NDUFA13
618249
OMIM = Online Medalian Inheritance of Men
255241
19p13.11
rare
autosomal recessive
mutation in the NDUFA13 gene
symptoms
chorea or athetosis
defect of walking, running, rising or climbing
developmental delay
dyskinesia
eye movements, abnormal
failure to thrive
hearing defect, deafness
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
optic neuropathy
pyramidal signs
speech development, delayed, abnormal
laboratory finding
L-Lactic acid mmol/mol Creaserum
Alanine +€mol/lserum
Literature
Adachi M,et al.Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1Endocr J5461003-10072007