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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00990 | Microcephaly, Amish type | ... alpha-ketoglutarate in the urine, and premature death. This disorder has been observed in Old Order Amish families. Patients have a homozygous point mutation in SLC25A19 that results in loss of transport activity. | Congenital malformation | SLC25A19 [HSA:60386] [KO:K15108] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |