- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Carpal bone hypoplasia (HP:0001498): Underdevelopment of one or more carpal bones. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:618395)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: IEA. (OMIM:618395)
- Multiple joint dislocation (HP:0012095): Dislocation of many joints. Evidence: IEA. (OMIM:618395)
- Narrow vertebral interpedicular distance (HP:0008450): A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: IEA. (OMIM:618395)
- Knee dislocation (HP:0004976). Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:26669664)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: IEA. (OMIM:618395)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: IEA. (OMIM:618395)
- Delayed ability to walk (HP:0031936): A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: IEA. (OMIM:618395)
- 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: PCS. Frequency: 2/2. (PMID:26669664)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:618395)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: IEA. (OMIM:618395)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 2/2. Onset: Congenital onset (HP:0003577). (PMID:26669664)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: IEA. (OMIM:618395)
- 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: PCS. (PMID:26669664)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: IEA. (OMIM:618395)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: IEA. (OMIM:618395)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:618395)
- Delayed ossification of carpal bones (HP:0001216): Ossification of carpal bones occurs later than age-adjusted norms. Evidence: PCS. Frequency: 2/2. (PMID:26669664)
These phenotypes are associated with the disease spondyloepimetaphyseal dysplasia with joint laxity, type 3 (OMIM:618395).