ODCs

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17q23.1q23.2 microdeletion syndrome

1 OMIM reference -
2 associated genes
45 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Hypoplastic left heart syndrome

2 OMIM references -
2 associated genes
8 signs/symptoms

17q23.1q23.2 microdeletion syndrome

Hypoplastic left heart syndrome

TBX2	(UniProt - OMIM)		GJA1	(UniProt - OMIM)
TBX4	(UniProt - OMIM)		NKX2-5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TBX2	(0.59)	NKX2-5

Citations in the biomedical literature:

17q23.1q23.2 microdeletion syndrome		Hypoplastic left heart syndrome
	Synonym(s): - 17q23.1-q23.2 microdeletion syndrome - Del(17)(q23.1q23.2) - Monosomy 17q23.1-q23.2 - Monosomy 17q23.1q23.2		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare surgical cardiac 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: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D018636


COMMON SIGNS	- Atrial septal defect / interauricular communication - Patent ductus arteriosus

17q23.1q23.2 microdeletion syndrome		Hypoplastic left heart syndrome
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Long foot / arachnodactyly of toes - Long hand / arachnodactyly Frequent - Frontal bossing / prominent forehead - Intrauterine growth retardation - Microcephaly - Pulmonary hypertension - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Bifid tip / cleft nose / supernumerary nose - Blepharitis / eyelid inflammation - Chronic / relapsing otitis - Clinodactyly of fifth finger - Depressed nasal bridge - Epicanthic folds - Epiphyseal anomaly - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat foot - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hearing loss / hypoacusia / deafness - High arched eyebrows - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypereflexia - Hypertelorism - Hypotonia - Long / large / bulbous nose - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Mid-facial hypoplasia / short / small midface - Patella absent / abnormal (excluding luxation) - Psychic / behavioural troubles - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Sacral sinus / dimple - Scoliosis - Shawl scrotum - Simian crease / transverse / unique palmar crease - Strabismus / squint - Wide space between 1st-2nd toes		Very frequent - Hypoplastic left heart / ventricle - Stillbirth / neonatal death Frequent - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption Occasional - Maternal diabetes - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Total / partial trisomy / duplication