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Hemihypertrophy

1 OMIM reference -
3 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Congenital stromal corneal dystrophy

1 OMIM reference -
1 associated gene
No signs/symptoms info

Hemihypertrophy

Congenital stromal corneal dystrophy

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGF2	(0.63)	DCN

Citations in the biomedical literature:

Hemihypertrophy		Congenital stromal corneal dystrophy
	Synonym(s): - Hemi 3 syndrome - Hemicorporal hypertrophy - Isolated hemihyperplasia		Synonym(s): - CSCD - Congenital hereditary stromal dystrophy - Witschel dystrophy

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 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
Congenital stromal corneal dystrophy
(no data available)