- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: IEA. (OMIM:600920)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: PCS. Frequency: 1/4. (PMID:20887961)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: IEA. (OMIM:600920)
- Long metacarpals (HP:0010493): An abnormally increased length of the metacarpal bones. Evidence: TAS. (OMIM:600920)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: IEA. (OMIM:600920)
- Long hallux (HP:0001847): Increased length of the big toe. Evidence: PCS. Frequency: 3/3. (PMID:20887961)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- Slender metacarpals (HP:0006236): Decreased width of the metacarpal bones (that is, reduced diameter). Evidence: IEA. (OMIM:600920)
- Glenoid fossa hypoplasia (HP:0006633): Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. Evidence: IEA. (OMIM:600920)
- 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: PCS. Frequency: 2/2. (PMID:29378527)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/4. (PMID:20887961)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: IEA. (OMIM:600920)
- 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: PCS. Frequency: 4/6. (PMID:20887961;PMID:29378527)
- 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: IEA. (OMIM:600920)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: IEA. (OMIM:600920)
- 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:29378527)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: IEA. (OMIM:600920)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 6/6. (PMID:20887961;PMID:29378527)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: IEA. (OMIM:600920)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: PCS. Frequency: 10/10. (PMID:20887961;OMIM:600920;PMID:29378527)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: IEA. (OMIM:600920)
- 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:20887961)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:600920)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: IEA. Frequency: 4/4. (OMIM:600920)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: PCS. Frequency: 1/4. (PMID:20887961)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: IEA. (OMIM:600920)
- Elbow contracture (HP:0034391): A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. Evidence: PCS. Frequency: 6/6. (PMID:20887961;PMID:29378527)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- Camptodactyly of 2nd-5th fingers (HP:0001215): The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Scaphocephaly (HP:0030799): Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Small earlobe (HP:0000385): Reduced volume of the earlobe. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Dilatation of the renal pelvis (HP:0010946): The presence of dilatation of the renal pelvis. Evidence: PCS. Frequency: 1/4. (PMID:20887961)
- Stridor (HP:0010307): Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Evidence: IEA. (OMIM:600920)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: IEA. (OMIM:600920)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: PCS. Frequency: 10/10. (PMID:20887961;OMIM:600920;PMID:29378527)
- Narrow nose (HP:0000460): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- Distal ulnar hypoplasia (HP:0005033): Underdevelopment of the distal portion of the ulna. Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- 2-3 toe cutaneous syndactyly (HP:0005709). Evidence: PCS. Frequency: 4/4. (PMID:20887961)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 6/6. (PMID:20887961;PMID:29378527)
- Lateral clavicle hook (HP:0000895): An excessive upward convexity of the lateral clavicle. Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- Narrow foot (HP:0001786): A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. Evidence: IEA. (OMIM:600920)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: IEA. (OMIM:600920)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: PCS. Frequency: 1/4. (PMID:20887961)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 1/4. (PMID:20887961)
- Abnormal eyebrow morphology (HP:0000534): An abnormality of the eyebrow. Evidence: IEA. (OMIM:600920)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: IEA. (OMIM:600920)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: PCS. Frequency: 4/6. (PMID:20887961;PMID:29378527)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: TAS. (OMIM:600920)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. (OMIM:600920)
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: PCS. Frequency: 6/6. (PMID:20887961;PMID:29378527)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: IEA. (OMIM:600920)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: IEA. (OMIM:600920)
- Recurrent patellar dislocation (HP:0005001): Patellar dislocation occurring repeated times. Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- 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. (OMIM:600920)
- Radioulnar subluxation (HP:6000506): Partial dislocation of the radioulnar joint. Evidence: PCS. Frequency: 5/5. (PMID:20887961;PMID:29378527)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/2. (PMID:29378527)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:600920)
- Camptodactyly of toe (HP:0001836): Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. Evidence: IEA. (OMIM:600920)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 4/4. (PMID:20887961)
These phenotypes are associated with the disease van den Ende-Gupta syndrome (OMIM:600920).