- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. (OMIM:154780)
- Irregular distal femoral epiphysis (HP:0006407): Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. Evidence: TAS. (OMIM:154780)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. (OMIM:154780)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. (OMIM:154780)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. (OMIM:154780)
- 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: PCS. (PMID:9529347)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: TAS. (OMIM:154780)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 9/9. (PMID:9529347)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: TAS. (OMIM:154780)
- Meningeal calcification (HP:0100250): Calcium deposition affecting the Meninges. Evidence: TAS. (OMIM:154780)
- Wide tufts of distal phalanges (HP:0006095). Evidence: TAS. (OMIM:154780)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 9/9. (PMID:9529347)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:154780)
- Irregular proximal tibial epiphyses (HP:0006456): Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. Evidence: TAS. (OMIM:154780)
- Macrodontia of permanent maxillary central incisor (HP:0000675): Increased size of the maxillary central secondary incisor tooth. Evidence: TAS. (OMIM:154780)
- 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: TAS. (OMIM:154780)
- Thick upper lip vermilion (HP:0000215): Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. (OMIM:154780)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 4/9. (PMID:9529347)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: TAS. (OMIM:154780)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 4/9. (PMID:9529347)
- Calcification of falx cerebri (HP:0005462): The presence of calcium deposition in the falx cerebri. Evidence: PCS. (PMID:9529347)
- 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: TAS. (OMIM:154780)
- Lens luxation (HP:0012019): Complete dislocation of the lens of the eye. Evidence: TAS. (OMIM:154780)
- 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: PCS. Frequency: 9/9. (PMID:9529347)
- Knee osteoarthritis (HP:0005086). Evidence: PCS. Onset: Middle age onset (HP:0003596). (PMID:9529347)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 9/9. (PMID:9529347)
- Clinodactyly of the 4th finger (HP:0040025). Evidence: PCS. Frequency: 2/9. (PMID:9529347)
- Hypoplastic fetal nasal bone (HP:0025707): Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. Evidence: PCS. (PMID:9529347)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. (OMIM:154780)
- Irregular femoral epiphysis (HP:0006361). Evidence: TAS. (OMIM:154780)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 9/9. Onset: Childhood onset (HP:0011463). (PMID:9529347)
- Small distal femoral epiphysis (HP:0012283): Reduced size of the Distal epiphysis of femur. Evidence: TAS. (OMIM:154780)
- Small proximal tibial epiphyses (HP:0012284): Reduced size of the proximal epiphysis of the tibia. Evidence: TAS. (OMIM:154780)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 1/9. (PMID:9529347)
- Vitreoretinopathy (HP:0007773): Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Evidence: TAS. (OMIM:154780)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 4/9. (PMID:9529347)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 2/9. (PMID:9529347)
- 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: TAS. (OMIM:154780)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: TAS. (OMIM:154780)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: PCS. Frequency: 4/9. (PMID:9529347)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9529347)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. (OMIM:154780)
- 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: TAS. (OMIM:154780)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. (OMIM:154780)
- 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: 9/9. (PMID:9529347)
- Absent frontal sinuses (HP:0002688): Aplasia of frontal sinus. Evidence: PCS. (PMID:9529347)
These phenotypes are associated with the disease Marshall syndrome (OMIM:154780).