What is YME1L1 DEFICIENCY?

very rare autosomal recessive mutation in the YME1L1 gene

Which enzymes are involved?

ATP-dependent zinc metalloprotease YME1L1

Disease	YME1L1 DEFICIENCY
Synonym	OPTIC ATROPHY 11; OPA11
OMIM	617302 OMIM = Online Mendelian Inheritance of Men
Orphanet	98676
Protein (UniProt)	ATP-dependent zinc metalloprotease YME1L1
Gene locus	10p12.1
ICD	H47.2
Summary	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