Phenotypes associated with the disease Congenital central hypoventilation syndrome (ORPHA:661):
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:661)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)
- Abnormality of the autonomic nervous system (HP:0002270): An abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:661)
- Ganglioneuroma (HP:0003005): A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)
- Neuroblastoma (HP:0003006): Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)
- Ganglioneuroblastoma (HP:0006747). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)
- Neoplasm of the central nervous system (HP:0100006): A neoplasm of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:661)