New Genes , 

Neurodevelopmental disorders and opposing effects on brain size is caused by pathogenic WDFY3 variants

• Consult the pubmed abstract

• Brain. 2019 Sep 1;142(9):2617-2630

46,XY and 46,XX disorders of sex development is caused by MYRF haploinsufficiency

• Consult the pubmed abstract

• To read more about “Genetic 46,XX disorder of sex development”
• To read more about “Genetic 46,XY disorder of sex development”

• Hum Mol Genet. 2019 Jul 15;28(14):2319-2329

Neurodevelopmental disability is caused by variants in TCF20

• Consult the pubmed abstract

• Genet Med. 2019 Sep;21(9):2036-2042

Alopecia with intellectual disability, a rare recessive neuroectodermal syndrome, is caused by biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis

• Consult the pubmed abstract

• To read more about “Alopecia-intellectual disability syndrome”

• Genet Med. 2019 Sep;21(9):2025-2035

Variable neurodevelopmental disorders are caused by haploinsufficiency of the notch ligand DLL1

• Consult the pubmed abstract

• To read more about “Autosomal dominant non-syndromic intellectual disability”

• Am J Hum Genet. 2019 Sep 5;105(3):631-639

A treatable malate-aspartate shuttle-related encephalopathy is caused by bi-allelic GOT2 mutations

• Consult the pubmed abstract

• Am J Hum Genet. 2019 Sep 5;105(3):534-548

Holoprosencephaly is caused by variants in the cohesin complex genes

• Consult the pubmed abstract

• To read more about “Holoprosencephaly”

• Brain. 2019 Sep 1;142(9):2631-2643

Rothmund-Thomson syndrome type 1 is caused by mutations in ANAPC1

• Consult the pubmed abstract

• To read more about “Rothmund-Thomson syndrome type 1”

• Am J Hum Genet. 2019 Sep 5;105(3):625-630