Intellectual developmental disorder, autosomal recessive 70

Disorder
OMIM #:	#618402 (Click to access OMIM database)
Disorder:	Intellectual developmental disorder, autosomal recessive 70
Also known as:	RSRC1-RELATED DISORDER MENTAL RETARDATION, AUTOSOMAL RECESSIVE 70 MRT70
Clinical
Phenotype:	developmental delay, motor delay, behavioural abnormalities, generalized hypotonia, facial dysmorphism, redundant skin, skin dimples
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
Mutations
1 Amish
Gene:	RSRC1
Base Change:	81kb deletion - exons 9&10 + entire MLF1 gene
Amino Acid Change:
Last updated:	2024-09-24

References
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, et al. (2020) RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain Apr 1;143(4):e31. PubMed ID: 32227164

References

Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, et al. (2020) RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain Apr 1;143(4):e31.
PubMed ID: 32227164

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