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17q23.1q23.2 microdeletion syndrome
1 OMIM reference -
2 associated genes
18 connected diseases
45 signs/symptoms
Disease Type of connection
Coxo-podo-patellar syndrome
Familial clubfoot due to 17q23.1q23.2 microduplication
Heritable pulmonary arterial hypertension
Giant cell glioblastoma
Gliosarcoma
Neurofibromatosis type 3
Recurrent infection due to specific granule deficiency
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Single ventricular septal defect
Tetralogy of Fallot
Thyroid hypoplasia
Acute promyelocytic leukemia
Synonym(s):
- 17q23.1-q23.2 microdeletion syndrome
- Del(17)(q23.1q23.2)
- Monosomy 17q23.1-q23.2
- Monosomy 17q23.1q23.2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBX2 Q13207600747
TBX4 P57082601719
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
- Patent ductus arteriosus
- Pulmonary hypertension
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Atrial septal defect / interauricular communication
- 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