ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

3 OMIM references -
2 associated genes
11 signs/symptoms

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Isolated ectopia lentis

FBN1	(UniProt - OMIM)		ADAMTSL4	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)

Citations in the biomedical literature:

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Isolated ectopia lentis
	Synonym(s): - Gemss syndrome		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare systemic or rheumatologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 2 MeSH references: C536184 / D004479


COMMON SIGNS	- Autosomal dominant inheritance - Lens dislocation / luxation / subluxation / ectopia lentis

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Isolated ectopia lentis
	Very frequent - Glaucoma - Short stature / dwarfism / nanism		Very frequent - Restricted joint mobility / joint stiffness / ankylosis Frequent - Depressed premaxillary region / midface - Intellectual deficit / mental / psychomotor retardation / learning disability - Prognathism / prognathia Occasional - Cataract / lens opacification - Chronic arterial hypertension - Nystagmus - Pupillary anomalies / mydriasis / myosis / tonic pupil - Visual loss / blindness / amblyopia