Phenotypes associated with the disease Waardenburg syndrome type 2E (OMIM:611584):
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. (OMIM:611584)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:18627047)
- Cerebral hypomyelination (HP:0006808): Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. Evidence: PCS. (OMIM:611584)
- Hypopigmented skin patches (HP:0001053). Evidence: PCS. (OMIM:611584)
- Dilated vestibule of the inner ear (HP:0011379): Dilatation of the vestibule of the inner ear. Evidence: PCS. (OMIM:611584)
- Hypoplasia of the semicircular canal (HP:0011382): Underdevelopment of the semicircular canal. Evidence: PCS. (OMIM:611584)
- Aplasia of the semicircular canal (HP:0011381): Absence of the semicircular canal. Evidence: PCS. (OMIM:611584)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. (OMIM:611584)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: PCS. (OMIM:611584)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: PCS. Frequency: 1/1. (PMID:18627047)
- Anosmia (HP:0000458): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:611584)
- Ocular albinism (HP:0001107): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: PCS. Frequency: 1/1. (PMID:18627047)
- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: IEA. (OMIM:611584)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: PCS. (OMIM:611584)
- 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: TAS. (OMIM:611584)
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: PCS. (OMIM:611584)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: PCS. (OMIM:611584)
- White forelock (HP:0002211): A triangular depigmented region of white hairs located in the anterior midline of the scalp. Evidence: PCS. Frequency: 1/1. (PMID:18627047)
- Global developmental delay (HP:0001263): 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. (OMIM:611584)
- Abnormal morphology of the vestibule of the inner ear (HP:0011376): A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. Evidence: PCS. (OMIM:611584)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/1. (PMID:18627047)
- 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: PCS. (OMIM:611584)
- Fundus hypopigmentation (HP:0007894): Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment. Evidence: PCS. Frequency: 1/1. (PMID:18627047)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: PCS. Frequency: 1/1. (PMID:18627047)
- Hypoplasia of the iris (HP:0007676): Congenital underdevelopment of the iris. Evidence: PCS. (OMIM:611584)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: PCS. (OMIM:611584)
- Autosomal dominant inheritance (HP:0000006): 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. (OMIM:611584)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: PCS. (OMIM:611584)