Phenotypes associated with the disease Waardenburg syndrome type 1 (ORPHA:894):
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Lacrimation abnormality (HP:0000632): Abnormality of tear production. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- White forelock (HP:0002211): A triangular depigmented region of white hairs located in the anterior midline of the scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Congenital sensorineural hearing impairment (HP:0008527): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- White hair (HP:0011364): Hypopigmented hair that appears white. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:894)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:894)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:894)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:894)
- Abnormal hair morphology (HP:0001595): An abnormality of the hair. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:894)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:894)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:894)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Strabismus (HP:0000486): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Ptosis (HP:0000508): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Meningocele (HP:0002435): Protrusion of the meninges through a defect of the skull or vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:894)