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YME1L1 DEFICIENCY

YME1L1 DEFICIENCY
OPTIC ATROPHY 11; OPA11
617302
OMIM = Online Mendelian Inheritance of Men
98676
ATP-dependent zinc metalloprotease YME1L1
10p12.1
H47.2
very rare
autosomal recessive
mutation in the YME1L1 gene
Laboratory findings    L-Lactic acid inc (cerebrospinal fluid)
    L-Lactic acid inc (serum)
Symptoms    ataxia
    behavior, hyperactive, restless
    blindness, visual loss, visual impairment
    cerebellar atrophy or hypoplasia
    dysmorphism
    hearing defect, deafness
    hypotonia
    intellectual disability/intellectual developmental disorder
    leukoencephalopathy
    macrocephaly (large calvaria, >2 SD for age)
    microcephaly (<2 SD for age)
    MRI, brain, abnormalities [-]
    myopia
    onset, childhood
    onset, infancy
    optic atrophy
    short stature
    speech development, delayed, abnormal
    strabismus