Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
MCPHA
microcephaly Amish type |
| gptkbp:category |
neurological disorder
|
| gptkbp:characterizedBy |
early infant death
profound intellectual disability severe microcephaly |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2002
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Amish lethal microcephaly
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mortalityRate |
lethal in infancy
|
| gptkbp:mutationAssociatedWith |
SIL1 gene
|
| gptkbp:OMIM |
607196
|
| gptkbp:prevalence |
Old Order Amish population
|
| gptkbp:symptom |
spasticity
seizures failure to thrive small head size |
| gptkbp:bfsParent |
gptkb:SLC25A19
|
| gptkbp:bfsLayer |
8
|