Total 21 clinical symptoms reported for X-linked intellectual disability, van Esch type
| Absence of secondary sex characteristics |
No secondary sexual characteristics are present at puberty.
Synonyms:No secondary sexual characteristics at puberty |
Very frequent |
| Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Synonyms:ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder |
Very frequent |
| Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
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 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 |
| Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; FTT; Postnatal failure to thrive; Weight faltering |
Very frequent |
| Hypergonadotropic hypogonadism |
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Synonyms:Hypergonadotrophic hypogonadism; Primary hypogonadism |
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 |
| Intrauterine growth retardation |
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Synonyms:Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant |
Very frequent |
| Male hypogonadism |
Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.
Synonyms:Decreased function of male gonad |
Very frequent |
| Microcephaly |
Head circumference below 2 standard deviations below the mean for age and sex.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference |
Very frequent |
| Microtia |
Underdevelopment of the external ear.
Synonyms:Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears |
Very frequent |
| Reduced social responsiveness |
A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.
Synonyms:Impaired social interaction; Impaired social interactions; Impaired social reciprocity; Poor social interactions |
Very frequent |
| Retractile testis |
A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.
Synonyms:Retractile testicle |
Very frequent |
| Retrognathia |
An abnormality in which the mandible is mislocalised posteriorly.
Synonyms:Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw |
Very frequent |
| Short stature |
A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Type II diabetes mellitus |
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Synonyms:Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes |
Very frequent |