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17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Xq27.3q28 duplication syndrome

1 OMIM reference -
1 associated gene
20 signs/symptoms

17q11 microdeletion syndrome

Xq27.3q28 duplication syndrome

NF1	(UniProt - OMIM)		FMR1	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	FMR1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Xq27.3q28 duplication syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Dup(X)(q27.3q28) - Trisomy Xq27.3-q28 - Trisomy Xq27.3q28 - Xq27.3-q28 microduplication syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin 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: (no data available)		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 - No MeSH references		External references: 1 OMIM reference - No MeSH references

Xq27.3q28 duplication 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
17q11 microdeletion syndrome
(no data available)