Human | D2HGDH | 728294 | D-2-hydroxyglutarate dehydrogenase | |
Human | SYT14 | 255928 | synaptotagmin XIV | Constitutional rearrangement of SYT14 may contribute to macrocephaly, cerebral atrophy, seizures and developmental delay |
Human | BRWD3 | 254065 | bromodomain and WD repeat domain containing 3 | BRWD3 is therefore a new gene implicated in the etiology of XLMR associated with macrocephaly and may cause disease by altering intracellular signaling pathways affecting cellular proliferation |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | Macrocephaly, progressive |
Human | ZNF469 | 84627 | zinc finger protein 469 | |
Human | C20orf7 | 79133 | | Macrocephaly, progressive |
Human | UPF3B | 65109 | UPF3 regulator of nonsense transcripts homolog B (yeast) | |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | Screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | Macrocephaly, progressive |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | |
Human | MLC1 | 23209 | megalencephalic leukoencephalopathy with subcortical cysts 1 | analysis of novel variants in MLC1 in patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts KIAA0027 alleles were evaluated for potential roles in susceptibility to megalencephalic leukoencephalopathy and schizophrenia 13 novel mutations are associated with Megalencephalic leukoencephalopathy with subcortical cysts Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts |
Human | B4GALT7 | 11285 | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 | |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Macrocephaly may develop in those who survive past age 2 years We describe progressive megalencephaly and severe brain abnormalities due to specific EIF2Bepsilon mutations in two unrelated families |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Macrocephaly may develop in those who survive past age 2 years |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Macrocephaly may develop in those who survive past age 2 years |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Macrocephaly may develop in those who survive past age 2 years |
Human | PEX3 | 8504 | peroxisomal biogenesis factor 3 | |
Human | OFD1 | 8481 | oral-facial-digital syndrome 1 | Study reports on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene |
Human | SYN1 | 6853 | synapsin I | |
Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | |
Human | PEX5 | 5830 | peroxisomal biogenesis factor 5 | |
Human | PEX19 | 5824 | peroxisomal biogenesis factor 19 | |
Human | PTEN | 5728 | phosphatase and tensin homolog | novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations PTEN mutations are a relatively infrequent cause of autism spectrum disorders with macrocephaly |