Phenotype #0000238607
| Individual ID |
00314849 |
| Associated disease |
INFM |
| Phenotype details |
see paper; ..., short stature (HP:0004322); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),round face, low anterior hairline, dental crowding, short broad neck, hypomimic; brachycephaly (HP:0000248); global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); muscular hypertonia (HP:0001276); gait ataxia (HP:0002066); dysarthria (HP:0001260); abnormality autonomic nervous system (HP:0002270), recurrent episodes of decreased alertness, aggravation of hypotonia and inefficient respiration requiring mechanical ventilation; abnormal systemic blood pressure (HP:0030972); peripheral neuropathy (HP:0009830); no skin ulcer (-HP:0200042); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205); no aspiration (-HP:0002835); central hypoventilation (HP:0007110); gastroesophageal reflux at infancy (HP:0002020); no vomiting (-HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); very frequent central apneas (>90/hr) accompanied by hypoxemia and poor response to oxygen; |
| Diagnosis/Initial |
hereditary spastic paraparesis |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
HSAN9 |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-10-19 19:13:33 +02:00 (CEST) |
| Date last edited |
2024-02-23 14:32:32 +01:00 (CET) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
