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microcephaly Amish type (Amish lethal microcephaly)
Genetics:
- autosomal recessive
- associated with defects in SLC25A19
Clinical manifestations:
- severe congenital microcephaly
- death within the first year
Laboratory:
- urine 2-ketoglutaric acid: severe 2-ketoglutaric aciduria
General
microcephaly
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 607196
References
OMIM :accession 607196