Phenotypes associated with the disease Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome (ORPHA:324540):
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Posteriorly rotated ears (HP:0000358): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- 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: Frequent (HP:0040282). (ORPHA:324540)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Long eyelashes (HP:0000527): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Retinal dystrophy (HP:0000556): Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Long palpebral fissure (HP:0000637): Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Optic atrophy (HP:0000648): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Microdontia (HP:0000691): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Bilateral ptosis (HP:0001488). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Laryngeal stenosis (HP:0001602): Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Loss of voice (HP:0001686). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Short nail (HP:0001799): Decreased length of nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Inverted nipples (HP:0003186): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Unilateral vocal cord paralysis (HP:0008757): A loss of the ability to move the vocal fold on one side. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Joint contracture of the 5th finger (HP:0009183): Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Flexion contracture of the 2nd finger (HP:0009537): Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Thumb contracture (HP:0009600): Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Duplication of phalanx of hallux (HP:0010066): Partial or complete duplication of one or more phalanx of big toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Duplication of distal phalanx of toe (HP:0010193): A partial or complete duplication of one or more distal phalanx of toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Severe intellectual disability (HP:0010864): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:324540)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324540)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324540)
- Hypoplastic labia minora (HP:0000064). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:324540)