Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (2 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Temperature instability
Temperature instability
- MedGen UID: 329973
- Concept ID: C1820737
- Finding: Finding
Abnormality of metabolism/homeostasis
- Temperature instability
- Abnormality of the cardiovascular system
- Sinus bradycardia
Sinus bradycardia
- MedGen UID: 39316
- Concept ID: C0085610
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Sinus bradycardia
- Abnormality of the digestive system
- Achalasia
Achalasia
- MedGen UID: 5023
- Concept ID: C0014848
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Chronic constipation
Chronic constipation
- MedGen UID: 98325
- Concept ID: C0401149
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
- MedGen UID: 892362
- Concept ID: C4023342
- Finding: Finding
Abnormality of the digestive system
- Ineffective esophageal peristalsis
Ineffective esophageal peristalsis
- MedGen UID: 1638022
- Concept ID: C4703577
- Finding: Finding
Abnormality of the digestive system
- Small intestinal dysmotility
Small intestinal dysmotility
- MedGen UID: 576812
- Concept ID: C0345200
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Achalasia
- Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Astigmatism
- Abnormality of the immune system
- Aspiration pneumonia
Aspiration pneumonia
- MedGen UID: 10814
- Concept ID: C0032290
- Finding: Disease or Syndrome
Abnormality of the immune system
- Aspiration pneumonia
- Abnormality of the musculoskeletal system
- Difficulty walking
Difficulty walking
- MedGen UID: 86319
- Concept ID: C0311394
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Difficulty walking
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Areflexia
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Hypopnea
Hypopnea
- MedGen UID: 536410
- Concept ID: C0235546
- Finding: Finding
Abnormality of the respiratory system
- Hypoventilation
Hypoventilation
- MedGen UID: 469022
- Concept ID: C3203358
- Finding: Pathologic Function
Abnormality of the respiratory system
- Restrictive ventilatory defect
Restrictive ventilatory defect
- MedGen UID: 478856
- Concept ID: C3277226
- Finding: Finding
Abnormality of the respiratory system
- Apnea
- Constitutional symptom
- Urinary incontinence
Urinary incontinence
- MedGen UID: 22579
- Concept ID: C0042024
- Finding: Finding
Constitutional symptom
- Urinary incontinence
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