Phenotypes associated with the disease acromesomelic dysplasia 2C, Hunter-Thompson type (OMIM:201250):
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. Frequency: 20/20. (OMIM:201250)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: IEA. (OMIM:201250)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: IEA. (OMIM:201250)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. (OMIM:201250)
- Acromesomelia (HP:0003086): Small hands and feet. Evidence: IEA. (OMIM:201250)
- Distal femoral bowing (HP:0005096): A bending or abnormal curvature of the distal portion of the femur. Evidence: IEA. (OMIM:201250)
- Severe short-limb dwarfism (HP:0008890). Evidence: IEA. (OMIM:201250)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:201250)
- Cuboidal metacarpal (HP:0006011): Severely shortened metacarpal with a cuboidal appearance. Evidence: IEA. (OMIM:201250)
- Shortening of all middle phalanges of the fingers (HP:0006110): Short, hypoplastic middle phalanx of finger, affecting all fingers. Evidence: TAS. (OMIM:201250)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: IEA. (OMIM:201250)
- Shortening of all proximal phalanges of the fingers (HP:0006144): Congenital hypoplasia of proximal phalanx of finger or all fingers. Evidence: TAS. (OMIM:201250)
- 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: IEA. (OMIM:201250)
- Abnormally shaped carpal bones (HP:0006014). Evidence: IEA. (OMIM:201250)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: IEA. (OMIM:201250)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: IEA. (OMIM:201250)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. (OMIM:201250)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: IEA. (OMIM:201250)