Primary microcephaly 6
| Disorder | |
|---|---|
| OMIM #: | #608393 (Click to access OMIM database) |
| Disorder: | Primary microcephaly 6 |
| Also known as: | MCPH6 |
| Clinical | |
| Phenotype: | microcephaly, developmental delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CENPJ |
| Base Change: | C>T, at nucleotide 40 |
| Amino Acid Change: | |
| 2 Amish | |
| Gene: | CENPJ |
| Base Change: | A>T, at nucleotide 3982 |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| References |
|---|
| Personal communication; seen at CSC. |
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