ODCs

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17q12 microdeletion syndrome

1 OMIM reference -
2 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Agnathia - holoprosencephaly - situs inversus

1 OMIM reference -
2 associated genes
20 signs/symptoms

17q12 microdeletion syndrome

Agnathia - holoprosencephaly - situs inversus

HNF1B	(UniProt - OMIM)		OTX2	(UniProt - OMIM)
LHX1	(UniProt - OMIM)		PRRX1	(UniProt - OMIM)


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

Citations in the biomedical literature:

17q12 microdeletion syndrome		Agnathia - holoprosencephaly - situs inversus
	Synonym(s): - Del(17)(q12) - Monosomy 17q12		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: sporadic

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

17q12 microdeletion syndrome		Agnathia - holoprosencephaly - situs inversus
	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		Very frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Cranial nerve anomalies - Cyclopia - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic mandibula / partial absence of the mandibula - Low set ears / posteriorly rotated ears - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Polyhydramnios - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Single nare / abouphalia - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Stillbirth / neonatal death - Synotia