- 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: PCS. Frequency: 8/19. (PMID:17994565)
- Progressive (HP:0003676, a Human Phenotype Ontology term): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: TAS. (OMIM:220500)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (OMIM:220500)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 27/31. (PMID:17994565)
- 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: IEA. (OMIM:220500)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. (PMID:17994565)
- Coarse facial features (HP:0000280, a Human Phenotype Ontology term): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 14/18. (PMID:17994565)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:220500)
- Hypoplastic fingernail (HP:0001804, a Human Phenotype Ontology term): Underdevelopment of a fingernail. Evidence: PCS. Frequency: 30/30. (PMID:17994565)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 8/15. (PMID:17994565)
- Hypoplastic toenails (HP:0001800, a Human Phenotype Ontology term): Underdevelopment of the toenail. Evidence: PCS. Frequency: 31/31. (PMID:17994565)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 2/30. (PMID:17994565)
- 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. (PMID:17994565)
- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. (PMID:17994565)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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: 4/24. (PMID:17994565)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 7/26. (PMID:17994565)
- 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: PCS. Frequency: 24/24. (PMID:17994565)
- Low anterior hairline (HP:0000294, a Human Phenotype Ontology term): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 5/15. (PMID:17994565)
- High myopia (HP:0011003, a Human Phenotype Ontology term): A severe form of myopia with greater than -6.00 diopters. Evidence: IEA. (OMIM:220500)
- Long thumb (HP:0032524, a Human Phenotype Ontology term): Length of the thumb is greater than normal. Evidence: PCS. Frequency: 17/28. (PMID:17994565)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 27/27. (PMID:17994565)
- Cystic renal dysplasia (HP:0000800, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:220500)
- Autosomal recessive inheritance (HP:0000007, 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 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:17994565)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 8/28. (PMID:17994565)
- 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: 9/29. (PMID:17994565)
- 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: 10/17. (PMID:17994565)
- Narrow forehead (HP:0000341, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: PCS. Frequency: 12/17. (PMID:17994565)
- Triphalangeal thumb (HP:0001199, a Human Phenotype Ontology term): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: PCS. Frequency: 9/29. (PMID:17994565)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:17994565)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): 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: PCS. Frequency: 19/20. (PMID:17994565)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): 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: PCS. Frequency: 18/20. (PMID:17994565)
- Polyneuropathy (HP:0001271, a Human Phenotype Ontology term): A generalized disorder of peripheral nerves. Evidence: PCS. Frequency: 3/3. (PMID:17994565)
- Increased urine alpha-ketoglutarate concentration (HP:0012402, a Human Phenotype Ontology term): A greater than normal concentration of 2-oxoglutaric acid in the urine. Evidence: PCS. (PMID:17994565)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 3/30. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:17994565)
- Blindness (HP:0000618, a Human Phenotype Ontology term): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: IEA. (OMIM:220500)
- Short distal phalanx of finger (HP:0009882, a Human Phenotype Ontology term): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. Frequency: 30/30. (PMID:17994565)
- Bulbous nose (HP:0000414, a Human Phenotype Ontology term): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 20/20. (PMID:17994565)
- Dandy-Walker malformation (HP:0001305, a Human Phenotype Ontology term): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:220500)
- 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: 13/21. (PMID:17994565)
- Ventriculomegaly (HP:0002119, a Human Phenotype Ontology term): An increase in size of the ventricular system of the brain. Evidence: TAS. (OMIM:220500)
- 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: PCS. Frequency: 15/18. (PMID:17994565)
- High palate (HP:0000218, a Human Phenotype Ontology term): 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: 7/20. (PMID:17994565)
- Gingival overgrowth (HP:0000212, a Human Phenotype Ontology term): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: PCS. Frequency: 3/3. (PMID:17994565)
- Thick lower lip vermilion (HP:0000179, a Human Phenotype Ontology term): 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: PCS. Frequency: 14/19. (PMID:17994565)
- Cerebral atrophy (HP:0002059, a Human Phenotype Ontology term): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. (OMIM:220500)
- Bilateral sensorineural hearing impairment (HP:0008619, a Human Phenotype Ontology term): A form of sensorineural hearing impairment that affects both ears. Evidence: TAS. (OMIM:220500)
- 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: 18/19. (PMID:17994565)
- Everted lower lip vermilion (HP:0000232, a Human Phenotype Ontology term): 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: IEA. (OMIM:220500)
- Thickened nuchal skin fold (HP:0000474, a Human Phenotype Ontology term): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: PCS. Frequency: 3/5. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:17994565)
- Open mouth (HP:0000194, a Human Phenotype Ontology term): A facial appearance characterized by a permanently or nearly permanently opened mouth. Evidence: PCS. Frequency: 12/17. (PMID:17994565)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 4/16. (PMID:17994565)
- Short 5th finger (HP:0009237, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: PCS. Frequency: 21/29. (PMID:17994565)
- 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: 2/30. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:17994565)
- Anonychia (HP:0001798, a Human Phenotype Ontology term): Aplasia of the nail. Evidence: TAS. (OMIM:220500)
- Renal agenesis (HP:0000104, a Human Phenotype Ontology term): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:220500)
These phenotypes are associated with the disease DOORS syndrome (OMIM:220500, an entry in Online Mendelian Inheritance in Man).