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Silver-Russell syndrome due to 11p15 microduplication

2 associated genes
No signs/symptoms info

COMMON GENES: 2

Hemihypertrophy

1 OMIM reference -
3 associated genes
14 signs/symptoms

Silver-Russell syndrome due to 11p15 microduplication

Hemihypertrophy

H19	(OMIM)		H19	(OMIM)
IGF2	(UniProt - OMIM)		IGF2	(UniProt - OMIM)
			KCNQ1OT1	(OMIM)


COMMON GENES	H19 IGF2

Citations in the biomedical literature:

Silver-Russell syndrome due to 11p15 microduplication		Hemihypertrophy
	Synonym(s): (no synonyms)		Synonym(s): - Hemi 3 syndrome - Hemicorporal hypertrophy - Isolated hemihyperplasia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

Hemihypertrophy
	Very frequent - Asymmetric rib cage / thorax - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Scoliosis Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Areflexia / hyporeflexia - Bladder and ureter anomalies - Congenital cardiac anomaly / malformation / cardiopathy - Inguinal / inguinoscrotal / crural hernia - Insensitivity to pain - Myelomeningocele - Nephroblastoma / Wilms tumor - Undescended / ectopic testes / cryptorchidia / unfixed testes
Silver-Russell syndrome due to 11p15 microduplication
(no data available)