ODCs

Cytoscape Web

Click node...

Fragile X syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Xq27.3q28 duplication syndrome

1 OMIM reference -
1 associated gene
20 signs/symptoms

Fragile X syndrome

Xq27.3q28 duplication syndrome

FMR1

(UniProt - OMIM)

FMR1

(UniProt - OMIM)


COMMON GENES	FMR1

Citations in the biomedical literature:

Fragile X syndrome		Xq27.3q28 duplication syndrome
	Synonym(s): - FRAXA syndrome - FXS - FraX syndrome - Martin-Bell syndrome		Synonym(s): - Dup(X)(q27.3q28) - Trisomy Xq27.3-q28 - Trisomy Xq27.3q28 - Xq27.3-q28 microduplication syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: D005600		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability

Fragile X syndrome		Xq27.3q28 duplication syndrome
	Very frequent - Chronic / relapsing otitis - Flat foot - Fragile chromosome X site - Hyperextensible joints / articular hyperlaxity - Macroorchidism / macrotestes - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked dominant inheritance Frequent - Frontal bossing / prominent forehead - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperactivity / attention deficit - Long face - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow face - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Prognathism / prognathia - Prominent / bat ears Occasional - Aortic root dilatation / dilation / aneurysm - Autism / autistic disoders - Auto-aggressivity / auto-mutilation - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - 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 - Intrauterine growth retardation - Truncal obesity Occasional - Precocious menopause / secondary amenorrhea