- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: IEA. (OMIM:227270)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: IEA. (OMIM:227270)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: IEA. (OMIM:227270)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: IEA. (OMIM:227270)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: IEA. (OMIM:227270)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:227270)
- Radial deviation of the hand (HP:0009486): An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). Evidence: IEA. (OMIM:227270)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: IEA. (OMIM:227270)
- 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:227270)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: IEA. (OMIM:227270)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: TAS. (OMIM:227270)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:227270)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: IEA. (OMIM:227270)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. (OMIM:227270)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:227270)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: IEA. (OMIM:227270)
These phenotypes are associated with the disease lethal faciocardiomelic dysplasia (OMIM:227270).