- 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: Very frequent (HP:0040281). (ORPHA:2560)
- Movement abnormality of the tongue (HP:0000182). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Mask-like facies (HP:0000298): A lack of facial expression often with staring eyes and a slightly open mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- 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:2560)
- External ophthalmoplegia (HP:0000544): Paralysis of the external ocular muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Abnormal finger morphology (HP:0001167): An anomaly of a finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- 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: Very frequent (HP:0040281). (ORPHA:2560)
- Bilateral talipes equinovarus (HP:0001776): Bilateral clubfoot deformity. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Demyelinating peripheral neuropathy (HP:0007108): Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Facial paralysis (HP:0007209): Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Decreased corneal reflex (HP:0008000): An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
- Abnormality of jaw muscles (HP:0045037). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2560)
These phenotypes are associated with the disease Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome (ORPHA:2560).