Total 20 clinical symptoms reported for Cerebellar ataxia-hypogonadism syndrome
Abnormal electroretinogram |
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Synonyms:Abnormal electroretinography; Abnormal ERG; ERG abnormal |
Very frequent |
Abnormality of retinal pigmentation |
Synonyms:Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Retinal pigmentary anomaly |
Very frequent |
Abnormality of the hypothalamus-pituitary axis |
Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
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Very frequent |
Ataxia |
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Synonyms:Cerebellar ataxia |
Very frequent |
Decreased fertility |
Synonyms:Abnormal fertility; Decreased fertility |
Very frequent |
Gynecomastia |
Abnormal development of large mammary glands in males resulting in breast enlargement.
Synonyms:Enlarged male breast; Gynaecomastia |
Very frequent |
Hypogonadism |
A decreased functionality of the gonad.
Synonyms:Decreased activity of gonads |
Very frequent |
Hypogonadotropic hypogonadism |
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).
Synonyms:Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism) |
Very frequent |
Neurological speech impairment |
Synonyms:Speech disorder; Speech impairment; Speech impediment |
Very frequent |
Nystagmus |
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Synonyms:Involuntary, rapid, rhythmic eye movements |
Very frequent |
Optic atrophy |
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.
Synonyms:Optic nerve atrophy; Optic-nerve degeneration |
Very frequent |