- Nephrocalcinosis (HP:0000121, a Human Phenotype Ontology term): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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:22265015)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Short 5th metacarpal (HP:0010047, a Human Phenotype Ontology term): Short fifth metacarpal bone. Evidence: PCS. Frequency: 2/9. (PMID:22265015)
- Varicocele (HP:0012871, a Human Phenotype Ontology term): A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Ivory epiphyses of the distal phalanges of the hand (HP:0010252, a Human Phenotype Ontology term): Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Aggressive behavior (HP:0000718, a Human Phenotype Ontology term): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- 11 pairs of ribs (HP:0000878, a Human Phenotype Ontology term): Presence of only 11 pairs of ribs. Evidence: PCS. Frequency: 2/9. (PMID:22265015)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): 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: IEA. (OMIM:136140)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: 7/14. (PMID:23763483;PMID:22265015)
- Hirsutism (HP:0001007, a Human Phenotype Ontology term): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: IEA. (OMIM:136140)
- Kyphoscoliosis (HP:0002751, a Human Phenotype Ontology term): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Hip dysplasia (HP:0001385, a Human Phenotype Ontology term): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Epididymal cyst (HP:0030424, a Human Phenotype Ontology term): A smooth, extratesticular, spherical cyst in the head of the epididymis. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Expressive language delay (HP:0002474, a Human Phenotype Ontology term): A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. Evidence: PCS. Frequency: 13/13. (PMID:22265015)
- Congenital posterior urethral valve (HP:0010957, a Human Phenotype Ontology term): A developmental defect resulting in an obstructing membrane in the posterior male urethra. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Persistent left superior vena cava (HP:0005301, a Human Phenotype Ontology term): A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Delayed skeletal maturation (HP:0002750, a Human Phenotype Ontology term): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 12/13. (PMID:22265015)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: IEA. (OMIM:136140)
- Deeply set eye (HP:0000490, a Human Phenotype Ontology term): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: IEA. (OMIM:136140)
- Microdontia (HP:0000691, a Human Phenotype Ontology term): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: 2/5. (PMID:22265015)
- Dislocated radial head (HP:0003083, a Human Phenotype Ontology term): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Glanular hypospadias (HP:0000807, a Human Phenotype Ontology term): A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): 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: 1/13. (PMID:22265015)
- Short middle phalanx of the 2nd finger (HP:0009577, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Prominent nose (HP:0000448, a Human Phenotype Ontology term): Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. Evidence: PCS. Frequency: 13/13. (PMID:22265015)
- Recurrent otitis media (HP:0000403, a Human Phenotype Ontology term): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Long eyelashes (HP:0000527, a Human Phenotype Ontology term): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: PCS. (PMID:22265015)
- Conductive hearing impairment (HP:0000405, a Human Phenotype Ontology term): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 2/13. (PMID:22265015)
- Clinodactyly of the 5th finger (HP:0004209, a Human Phenotype Ontology term): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 9/12. (PMID:23763483;PMID:22265015)
- Short philtrum (HP:0000322, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 12/14. (PMID:23763483;PMID:22265015)
- Hypospadias (HP:0000047, a Human Phenotype Ontology term): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 1/11. (PMID:22265015)
- Triangular face (HP:0000325, a Human Phenotype Ontology term): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 11/12. (PMID:22265015)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: PCS. Frequency: 9/13. (PMID:22265015)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:22265015)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Inguinal hernia (HP:0000023, a Human Phenotype Ontology term): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Hypermetropia (HP:0000540, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 2/13. (PMID:22265015)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 9/12. (PMID:22265015)
- Short middle phalanx of the 5th finger (HP:0004220, a Human Phenotype Ontology term): Hypoplastic/small middle phalanx of the fifth finger. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Low posterior hairline (HP:0002162, a Human Phenotype Ontology term): Hair on the neck extends more inferiorly than usual. Evidence: IEA. (OMIM:136140)
- Mesocardia (HP:0011599, a Human Phenotype Ontology term): Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Short 1st metacarpal (HP:0010034, a Human Phenotype Ontology term): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230, a Human Phenotype Ontology term): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: IEA. (OMIM:136140)
- Bulbous nose (HP:0000414, a Human Phenotype Ontology term): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Thin upper lip vermilion (HP:0000219, a Human Phenotype Ontology term): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 10/14. (PMID:23763483;PMID:22265015)
- Low hanging columella (HP:0009765, a Human Phenotype Ontology term): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: 14/14. (PMID:23763483;PMID:22265015)
- Downturned corners of mouth (HP:0002714, a Human Phenotype Ontology term): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: IEA. (OMIM:136140)
- Short clavicles (HP:0000894, a Human Phenotype Ontology term): Reduced length of the clavicles. Evidence: PCS. Frequency: 1/9. (PMID:22265015)
- Wide mouth (HP:0000154, a Human Phenotype Ontology term): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 12/13. (PMID:22265015)
- Carious teeth (HP:0000670, a Human Phenotype Ontology term): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 3/5. (PMID:22265015)
- Generalized hypertrichosis (HP:0004554, a Human Phenotype Ontology term): Generalized excessive, abnormal hairiness. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Atopic dermatitis (HP:0001047, a Human Phenotype Ontology term): Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Underdeveloped nasal alae (HP:0000430, a Human Phenotype Ontology term): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Delayed ability to walk (HP:0031936, a Human Phenotype Ontology term): 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: 1/1. (PMID:23763483)
- Prominent metopic ridge (HP:0005487, a Human Phenotype Ontology term): Vertical bony ridge positioned in the midline of the forehead. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: IEA. (OMIM:136140)
- Coarctation of aorta (HP:0001680, a Human Phenotype Ontology term): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Broad fingertip (HP:0011300, a Human Phenotype Ontology term): Increased width of the distal segment of a finger. Evidence: PCS. Frequency: 7/9. (PMID:22265015)
- Broad thumb (HP:0011304, a Human Phenotype Ontology term): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 7/10. (PMID:22265015)
- Celiac disease (HP:0002608, a Human Phenotype Ontology term): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Prominent nasal bridge (HP:0000426, a Human Phenotype Ontology term): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: PCS. Frequency: 1/1. (PMID:23763483)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 1/13. (PMID:22265015)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/11. (PMID:22265015)
These phenotypes are associated with the disease Floating-Harbor syndrome (OMIM:136140, an entry in Online Mendelian Inheritance in Man).