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Syndromic microphthalmia type 5

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

PROTEIN INTERACTIONS: 1

17q12 microdeletion syndrome

1 OMIM reference -
2 associated genes
21 signs/symptoms

Syndromic microphthalmia type 5

17q12 microdeletion syndrome

OTX2	(UniProt - OMIM)		HNF1B	(UniProt - OMIM)
			LHX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OTX2	(0.81)	LHX1

Citations in the biomedical literature:

Syndromic microphthalmia type 5		17q12 microdeletion syndrome
	Synonym(s): - MCOPS5 - Syndromic microphthalmia/anophthalmia due to OTX2 mutation		Synonym(s): - Del(17)(q12) - Monosomy 17q12

	Classification (Orphanet): - Rare eye disease - Rare genetic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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

17q12 microdeletion syndrome
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Multicystic kidney / renal dysplasia Frequent - Diabetes mellitus - Short stature / dwarfism / nanism Occasional - Abnormal hepatic enzymes / transaminases - Agenesis / hypoplasia / aplasia of kidneys - Autism / autistic disoders - Congenital absence / agenesis / aplasia / hypoplasia of the pancreas - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Hearing loss / hypoacusia / deafness - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Oligoamnios - Renal failure - Seizures / epilepsy / absences / spasms / status epilepticus - Shawl scrotum - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis
Syndromic microphthalmia type 5
(no data available)