Microcephaly, Amish type
| Disorder | |
|---|---|
| OMIM #: | #607196 (Click to access OMIM database) |
| Disorder: | Microcephaly, Amish type |
| Also known as: | Amish lethal microcephaly |
| Clinical | |
| Phenotype: | microcephaly, facial appearance similar to anencephaly, micrognathia, hepatomegaly, difficulty maintaining body temperature, lethargy, increased levels of 2-ketoglutarate and 2-ketoadipate in urine, almost abscent cranial vault |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | SLC25A19 |
| Base Change: | G>C, at nucleotide 530 |
| Amino Acid Change: | gly 177 --> ala |
| Last updated: | 2012-12-10 |
| References |
|---|
| Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. (2002) Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am. J. Med. Genet. 112:318-326. PubMed ID: 12376931 |
| Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. (2002) Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am. J. Med. Genet. 112:318-326. PubMed ID: 12376931 |
| Rosenberg M, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard M, Koch T, Kalikin F, Makalowska I, Morton D, Petty E, Weber J, Palmieri F, Kelley R, Schaffer A, and Biesecker L. (2002) Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nature Genetics 32: 175-179. PubMed ID: 12185364 |
Back