Phenotypes associated with the disease Joubert syndrome 10 (OMIM:300804, an entry in Online Mendelian Inheritance in Man):
- Epicanthus (HP:0000286, a Human Phenotype Ontology term): 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:300804)
- Decreased body weight (HP:0004325, a Human Phenotype Ontology term): Abnormally low body weight. Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:19800048)
- 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. Frequency: 1/1. (PMID:19800048)
- Dysmetria (HP:0001310, a Human Phenotype Ontology term): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Deep philtrum (HP:0002002, a Human Phenotype Ontology term): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: PCS. (PMID:19800048)
- 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: 1/1. (PMID:19800048)
- Profound intellectual disability (HP:0002187, a Human Phenotype Ontology term): Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. Evidence: TAS. (OMIM:300804)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Enlarged cisterna magna (HP:0002280, a Human Phenotype Ontology term): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: TAS. (OMIM:300804)
- Frequent temper tantrums (HP:0025161, a Human Phenotype Ontology term): Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process. Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Severe intellectual disability (HP:0010864, a Human Phenotype Ontology term): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: PCS. Frequency: 9/9. (PMID:19800048)
- Recurrent infections (HP:0002719, a Human Phenotype Ontology term): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 9/9. (PMID:19800048)
- Thick vermilion border (HP:0012471, a Human Phenotype Ontology term): Increased width of the skin of vermilion border region of upper lip. Evidence: PCS. Frequency: 12/12. (OMIM:300804;PMID:19800048)
- Molar tooth sign on MRI (HP:0002419, a Human Phenotype Ontology term): An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. Evidence: PCS. Frequency: 3/3. (PMID:19800048)
- Feeding difficulties in infancy (HP:0008872, a Human Phenotype Ontology term): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: PCS. (PMID:19800048)
- Rod-cone dystrophy (HP:0000510, a Human Phenotype Ontology term): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 3/8. (PMID:19800048)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: 1/9. (OMIM:300804)
- Hirsutism (HP:0001007, a Human Phenotype Ontology term): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Cerebellar vermis hypoplasia (HP:0001320, a Human Phenotype Ontology term): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 2/2. (PMID:19800048)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/9. (PMID:19800048)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/9. (PMID:19800048)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. (OMIM:300804)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Absent speech (HP:0001344, a Human Phenotype Ontology term): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 2/2. (PMID:19800048)
- Postaxial hand polydactyly (HP:0001162, a Human Phenotype Ontology term): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 6/9. (PMID:19800048)
- Polyphagia (HP:0002591, a Human Phenotype Ontology term): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. (OMIM:300804)
- Tube feeding (HP:0033454, a Human Phenotype Ontology term): Feeding problem necessitating food and nutrient delivery via a tube. Evidence: PCS. Frequency: 2/2. (PMID:19800048)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:19800048)
- Recurrent fever (HP:0001954, a Human Phenotype Ontology term): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 1/1. (PMID:19800048)
- 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: 1/1. (PMID:19800048)
- Postaxial foot polydactyly (HP:0001830, a Human Phenotype Ontology term): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: PCS. Frequency: 6/9. (PMID:19800048)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:300804)
- Growth delay (HP:0001510, a Human Phenotype Ontology term): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. (PMID:19800048)
- Obesity (HP:0001513, a Human Phenotype Ontology term): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/9. (PMID:19800048)
- 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: 2/2. (PMID:19800048)