Phenotypes associated with the disease Fraser-like syndrome (OMIM:229230):
- Subglottic stenosis (HP:0001607). Evidence: TAS. (OMIM:229230)
- Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540): Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. Evidence: TAS. (OMIM:229230)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: TAS. (OMIM:229230)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:229230)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: TAS. (OMIM:229230)