ODCs

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Xq27.3q28 duplication syndrome

1 OMIM reference -
1 associated gene
20 signs/symptoms

COMMON GENES: 1

Fragile X-associated tremor/ataxia syndrome

1 OMIM reference -
1 associated gene
29 signs/symptoms

Xq27.3q28 duplication syndrome

Fragile X-associated tremor/ataxia syndrome

FMR1

(UniProt - OMIM)

FMR1

(UniProt - OMIM)


COMMON GENES	FMR1

Citations in the biomedical literature:

Xq27.3q28 duplication syndrome		Fragile X-associated tremor/ataxia syndrome
	Synonym(s): - Dup(X)(q27.3q28) - Trisomy Xq27.3-q28 - Trisomy Xq27.3q28 - Xq27.3-q28 microduplication syndrome		Synonym(s): - FXTAS syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Xq27.3q28 duplication syndrome		Fragile X-associated tremor/ataxia syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Long / large / bulbous nose - Short stature / dwarfism / nanism - Small foot - Small hand / acromicria - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Thin / retracted lips - Total / partial trisomy / duplication - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Decreased body hair / axillar / pubic hairlessness - Delayed bone age - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Hypotonia - Intrauterine growth retardation - Truncal obesity Occasional - Precocious menopause / secondary amenorrhea		Very frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Fragile chromosome X site - Psychic / psychomotor regression / dementia / intellectual decline - Tremor - Troubles of memory / amnesia / hypermnesia - X-linked dominant inheritance Frequent - Areflexia / hyporeflexia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Dysautonomia / autonomous nervous sytem anomalies - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hypertonia / spasticity / rigidity / stiffness - Impotence / painful erection / priapism / erection troubles - Muscle weakness / flaccidity - Obsessive-compulsive disorder - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Peripheral neuropathy - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Sphincter dysfunction Occasional - Chronic arterial hypertension - Encopresis / fecal incontinence - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypotension - Hypothyroidy - Midbrain / brainstem / pons / medulla anomalies - Myalgia / muscular pain