Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 27-06-2023

Symbol	MMDS3
Location	1q42.13
Name	multiple mitochondrial dysfunctions syndrome 3
Other name(s)	IBA57 deficiency
Corresponding gene	IBA57
Other symbol(s)	IBA57D
Main clinical features	generalized hypotonia, respiratory insufficiency, arthrogryposis, microcephaly, congenital brain malformations and hyperglycinemia, leading to early death encephalomyopathy and myopathy resulting from mitochondrial dysfunction prenatal ultrasound showed intrauterine growth retardation, polyhydramnios, microcephaly, and dilated cerebral ventricles at birth, hypotonia with absent primitive reflexes, microcephaly and dysmorphic features, including retrognathia, high palate, widely spaced nipples, and arthrogryposis of elbows, wrists, fingers, and knees brain MRI showed white matter abnormalities, hypoplasia of the corpus callosum, frontoparietal polymicrogyria, brainstem hypoplasia, cavitating leukodystrophy
Genetic determination	autosomal recessive
Function/system disorder	multisystem/generalized
	neuromuscular
Type	disease

Remark(s)

mutation leads to partial functional impairment of IBA57, yet the major pathogenic impact is due to its proteolytic degradation below physiologically critical levels (PMID: 23462291))