- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. (OMIM:117850)
- Sacral hypertrichosis (HP:0004532): Excessive, increased hair growth located in the sacral region. Evidence: TAS. (OMIM:117850)
- Lumbar hypertrichosis (HP:0011913): Excessive, increased hair growth located in the lumbar region. Evidence: TAS. (OMIM:117850)
- Thoracic hypertrichosis (HP:0011914): Excessive, increased hair growth located in the thoracic region. Evidence: TAS. (OMIM:117850)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:117850)
- Anterior cervical hypertrichosis (HP:0004535): Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. Evidence: TAS. (OMIM:117850)
These phenotypes are associated with the disease cervical hypertrichosis with underlying kyphoscoliosis (OMIM:117850).