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Summary
YME1L1 DEFICIENCY
OPTIC ATROPHY 11 OPA11
617302
OMIM = Online Medalian Inheritance of Men
98676
10p12.1
very rare
autosomal recessive
mutation in the YME1L1 gene
symptoms
ataxia
behavior, hyperactive, restless
blindness, visual loss, visual impairment
cerebellar atrophy or hypoplasia
dysmorphism
hearing defect, deafness
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
leukoencephalopathy
macrocephaly (large calvaria, >2 SD for age)
microcephaly (<2 SD for age)
myopia
onset, childhood
onset, infancy
optic atrophy
short stature
speech development, delayed, abnormal
strabismus
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
MRI, brain, abnormalities -
Literature
Wang HH,et al.Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IVInt J Pediatr Otorhinolaryngol92017-202017