Total 32 clinical symptoms reported for Woodhouse-Sakati syndrome
| Abnormal spermatogenesis |
Incomplete maturation or aberrant formation of the male gametes.
Synonyms:Impaired spermatogenesis |
Very frequent |
| Alopecia |
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Synonyms:Hair loss |
Very frequent |
| Aplasia/Hypoplasia of the eyebrow |
Absence or underdevelopment of the eyebrow.
Synonyms:Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow |
Very frequent |
| Bilateral sensorineural hearing impairment |
A form of sensorineural hearing impairment that affects both ears.
Synonyms:Bilateral nerve deafness; Bilateral sensorineural deafness; Bilateral sensorineural hearing loss; Hearing loss, sensorineural, bilateral |
Very frequent |
| Choreoathetosis |
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Synonyms:Choreoathetoid movements |
Very frequent |
| Decreased response to growth hormone stimulation test |
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
|
Very frequent |
| Decreased serum estradiol |
A reduction below normal concentration of estradiol in the circulation.
Synonyms:Decreased serum estradiol |
Very frequent |
| Decreased serum testosterone concentration |
Synonyms:Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels |
Very frequent |
| Decreased testicular size |
Reduced volume of the testicle (the male gonad).
Synonyms:Decreased testicular size; Hypoplastic testes; Small testes; Small testis; Testicular hypoplasia |
Very frequent |
| Delayed puberty |
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Synonyms:Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay |
Very frequent |
| Delayed skeletal maturation |
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation |
Very frequent |
| Dysarthria |
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Synonyms:Difficulty articulating speech; Dysarthric speech |
Very frequent |
| Dystonia |
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Synonyms:Dystonic movements |
Very frequent |
| Growth delay |
A deficiency or slowing down of growth pre- and postnatally.
Synonyms:Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth |
Very frequent |
| Hypogonadism |
A decreased functionality of the gonad.
Synonyms:Decreased activity of gonads |
Very frequent |
| Hypoplasia of the fallopian tube |
Developmental hypoplasia of the fallopian tube.
Synonyms:Rudimentary fallopian tubes; Underdeveloped fallopian tube |
Very frequent |
| Hypoplasia of the uterus |
Underdevelopment of the uterus.
Synonyms:Hypoplastic uterus; Rudimentary uterus; Small uterus; Underdeveloped uterus |
Very frequent |
| Hypothyroidism |
Deficiency of thyroid hormone.
Synonyms:Low T4; Underactive thyroid |
Very frequent |
| Insulin-resistant diabetes mellitus |
A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.
Synonyms:Insulin resistant diabetes; Insulin resistant diabetes mellitus; Insulin-resistant diabetes |
Very frequent |
| Intellectual disability, mild |
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Synonyms:Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation |
Very frequent |
| Mental deterioration |
Loss of previously present mental abilities, generally in adults.
Synonyms:Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline |
Very frequent |
| Micropenis |
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Synonyms:Short penis; Small penis |
Very frequent |
| Osteopenia |
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Synonyms:Generalized osteopenia |
Very frequent |
| Premature ovarian insufficiency |
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Synonyms:Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause; Premature ovarian failure; Primary ovarian insufficiency |
Very frequent |
| Protruding ear |
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Synonyms:Prominent ear; Prominent ears |
Very frequent |
| Streak ovary |
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
|
Very frequent |