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1 OMIM reference -
2 associated genes
45 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
2 OMIM references -
6 associated genes
14 signs/symptoms
17q23.1q23.2 microdeletion syndrome
Thyroid hypoplasia

TBX2 FOXE1
TBX4 NKX2-1
NKX2-5
PAX8
SLC26A4
TSHR


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
TBX2 TBX4
Thyroid hypoplasia
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR



17q23.1q23.2 microdeletion syndrome
Thyroid hypoplasia

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 endocrine disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism


17q23.1q23.2 microdeletion syndrome
Thyroid hypoplasia

Very frequent
- Insterstitial / subtelomeric microdeletion / deletion
- Long foot / arachnodactyly of toes
- Long hand / arachnodactyly

Frequent
- Frontal bossing / prominent forehead
- Intrauterine growth retardation
- Microcephaly
- Patent ductus arteriosus
- Pulmonary hypertension
- 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
- 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
- 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
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic