- Finger aplasia (HP:0009380): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- 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: Very frequent (HP:0040281). (ORPHA:45358)
- 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: Very frequent (HP:0040281). (ORPHA:45358)
- Impaired ocular adduction (HP:0000542): Reduced ability to move the eye in the direction of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Congenital fibrosis of extraocular muscles (HP:0001491): Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Abnormality of ocular abduction (HP:0011347): An abnormality involving the movement of the eye outwards. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Levator palpebrae superioris atrophy (HP:0012241): Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Limited vertical extraocular movement (HP:0025721): Limited mobility of the eye to move up and down (vertically) within its socket. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Slow pupillary light response (HP:0030211): Reduced velocity and acceleration in the pupillary light response. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Abnormal best corrected visual acuity test (HP:0030534). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Absent Bell phenomenon (HP:6000709): The Bell phenomenon is the reflex upward movement of the front of the eyeball when the eyelids close (or blink). It protects the eye by helping to keep the cornea moist. This term refers to a lack of this phenomenon, which can be observed with certain conditions such as congenital fibrosis of the extraocular muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:45358)
- Abnormal electroretinogram (HP:0000512): Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Abnormality of refraction (HP:0000539): An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Miosis (HP:0000616): Abnormal (non-physiological) constriction of the pupil. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Compensatory chin elevation (HP:0001477): A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Nonprogressive restrictive external ophthalmoplegia (HP:0007831): Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Abnormal involuntary eye movements (HP:0012547): Anomalous movements of the eyes that occur without the subject wanting them to happen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Abnormal pupil shape (HP:0025309): A deviation from the normal circular shape of the pupil. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Abnormal visual field test (HP:0030588): Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:45358)
- Hypogonadotropic hypogonadism (HP:0000044): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Esotropia (HP:0000565): A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Hypotonia (HP:0001252): 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- 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: Occasional (HP:0040283). (ORPHA:45358)
- Anisocoria (HP:0009916): Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Marcus Gunn jaw winking synkinesis (HP:0025186): Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
- Aplasia of the olfactory bulb (HP:0032466): Lack of formation (congenital absence) of the olfactory bulb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:45358)
These phenotypes are associated with the disease Congenital fibrosis of extraocular muscles (ORPHA:45358).