- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: IEA. (OMIM:210745)
- Borderline intellectual disability (HP:0006889): Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. Evidence: IEA. (OMIM:210745)
- Weak extraocular muscles (HP:0007715). Evidence: IEA. (OMIM:210745)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:210745)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: IEA. (OMIM:210745)
- 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:210745)
- Frontalis muscle weakness (HP:0004661): Reduced strength of the frontalis muscle (which is located on the forehead). Evidence: IEA. (OMIM:210745)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:210745)
- Hypertropia (HP:0025586): A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. Evidence: IEA. (OMIM:210745)
- Cutaneous finger syndactyly (HP:0010554): A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. Evidence: IEA. (OMIM:210745)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:210745)
- 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:210745)
- Anosmia (HP:0000458): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: IEA. (OMIM:210745)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: IEA. (OMIM:210745)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: IEA. (OMIM:210745)
- Thick lower lip vermilion (HP:0000179): Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). Evidence: IEA. (OMIM:210745)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: IEA. (OMIM:210745)
These phenotypes are associated with the disease blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (OMIM:210745).