뇌-폐-갑상선 증후군

유전자 (1건)

유병률 (2건)

• •Worldwide · Cases/families
• •<1 / 1 000 000 · Worldwide · Point prevalence

국제 의학 용어 — 표현형 (HPO · 영문 원본)(60건 중 상위 30건 표시)

• Abnormality of the thyroid gland매우 빈번 (99-80%)
• Abnormality of the nervous system빈번 (79-30%)
• Congenital hypothyroidism빈번 (79-30%)
• Ataxia빈번 (79-30%)
• Choreoathetosis빈번 (79-30%)
• Chorea빈번 (79-30%)
• Abnormality of the respiratory system빈번 (79-30%)
• Respiratory distress빈번 (79-30%)
• Neonatal respiratory distress빈번 (79-30%)
• Floppy infant빈번 (79-30%)
• Sensorineural hearing impairment가끔 (29-5%)
• Intellectual disability, mild가끔 (29-5%)
• Dysarthria가끔 (29-5%)
• Global developmental delay가끔 (29-5%)
• Motor delay가끔 (29-5%)
• Dystonia가끔 (29-5%)
• Myoclonus가끔 (29-5%)
• Failure to thrive가끔 (29-5%)
• Growth delay가끔 (29-5%)
• Ventricular septal defect가끔 (29-5%)
• Atrial septal defect가끔 (29-5%)
• Abnormal cardiac septum morphology가끔 (29-5%)
• Intention tremor가끔 (29-5%)
• Pulmonary arterial hypertension가끔 (29-5%)
• Apraxia가끔 (29-5%)
• Recurrent respiratory infections가끔 (29-5%)
• Incoordination가끔 (29-5%)
• Clumsiness가끔 (29-5%)
• Elevated circulating thyroid-stimulating hormone concentration가끔 (29-5%)
• Involuntary movements가끔 (29-5%)