- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 8/8. (PMID:21664999)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. Frequency: 5/8. (PMID:21664999)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 2/8. (PMID:21664999)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/8. (PMID:21664999)
- Megalocornea (HP:0000485): An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. Evidence: PCS. Frequency: 0/8. (PMID:21664999)
- 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: 8/8. (PMID:21664999)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: PCS. Frequency: 8/8. (PMID:21664999)
- Corneal perforation (HP:0100583): A rupture of the cornea through which a portion of the iris protrudes. Evidence: PCS. Frequency: 4/8. (PMID:21664999)
- Decreased corneal thickness (HP:0100689): A decreased anteroposterior thickness of the cornea. Evidence: PCS. Frequency: 2/2. (PMID:21664999)
- Keratoglobus (HP:0001119): Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. Evidence: PCS. Frequency: 4/8. (PMID:21664999)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 1/8. (PMID:21664999)
- 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:21664999)
- Recurrent fractures (HP:0002757): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 2/8. (PMID:21664999)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 4/8. (PMID:21664999)
- Flat cornea (HP:0007720): Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614170)
- Sclerocornea (HP:0000647): A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. Evidence: PCS. Frequency: 2/8. (PMID:21664999)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 7/8. (PMID:21664999)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 3/8. (PMID:21664999)
These phenotypes are associated with the disease brittle cornea syndrome 2 (OMIM:614170).