Orofacial clefting
| Disorder | |
|---|---|
| OMIM #: | *603551 (Click to access OMIM database) |
| Disorder: | Orofacial clefting |
| Also known as: | |
| Clinical | |
| Phenotype: | cleft lip, cleft palate, cor triatriatum sinister, hearing impairment |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | HYAL2 |
| Base Change: | A>G, at nucleotide 443 |
| Amino Acid Change: | lys 148 --> arg |
| Last updated: | 2022-11-11 |
| References |
|---|
| Muggenthaler MM, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, Zahka K, Faqeih E, Blakley B, et al. (2017) Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet Jan 12;13(1):e1006470. PubMed ID: 28081210 |
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