- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: IEA. (OMIM:612813)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: IEA. (OMIM:612813)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: IEA. (OMIM:612813)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Absent nasal bridge (HP:0005285). Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Relative macrocephaly (HP:0004482): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: IEA. (OMIM:612813)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Irregular epiphyses (HP:0010582): An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. Evidence: IEA. (OMIM:612813)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: IEA. Frequency: 2/3. (PMID:19110214)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:612813)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- 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. (PMID:19110214)
- Bronchoconstriction (HP:4000007): Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. Evidence: IEA. (OMIM:612813)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: IEA. Frequency: 3/3. (PMID:19110214)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: IEA. Frequency: 3/3. (PMID:19110214)
These phenotypes are associated with the disease spondyloepimetaphyseal dysplasia, aggrecan type (OMIM:612813).