Holt-Oram syndrome
| Disorder | |
|---|---|
| OMIM #: | #142900 (Click to access OMIM database) |
| Disorder: | Holt-Oram syndrome |
| Also known as: | HOS1 HEART-HAND SYNDROME ATRIODIGITAL DYSPLASIA |
| Clinical | |
| Phenotype: | abnormalities of the upper limbs and shoulder girdle, absent pectoralis major, veterbral defects, triphalangeal thumb, thumb hypoplasia, secundum atrial septal defect, ventricular septal defect, pacts excavatum, pectus carinatum |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | TBX5 |
| Base Change: | ins.C, at nucleotide 474 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2022-11-05 |
| References |
|---|
| Personal communication; seen at CSC. |
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