Phenotype #0000238613
| Individual ID |
00314855 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
HSAN9 |
| Phenotype details |
see paper; ..., no premature birth (-HP:0001622); no short stature (-HP:0004322); no decreased body weight (-HP:0004325); no microcephaly (-HP:0000252); normal facial shape (-HP:0001999); no brachycephaly (-HP:0000248); 22m-walk; 50 words at age 3.5y; global developmental delay (HP:0001263); intellectual disability (HP:0001249); behavioral abnormalities (HP:0000708), excessively friendly, hyperactive; no seizures (-HP:0001250); no hyporeflexia lower limbs (-HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066), poorly coordinated gait; dysarthria (HP:0001260), articulation difficulties; abnormality autonomic nervous system (HP:0002270), photophobia (without an overt pupil abnormality) and chronic constipation; impaired pain sensation (HP:0007328); visual impairment (HP:0000505), strabismus; normal respiratory system morphology (-HP:0012252); no recurrent respiratory infections (-HP:0002205); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); no gastroesophageal reflux at infancy (-HP:0002020); no vomiting (-HP:0002013); dysphagia (HP:0002015); chronic constipation (HP:0012450); EEG abnormal (HP:0002353), mild background slowing and excess fast activity diffusely, rare bursts of delta activity and multifocal epileptiform discharges without clinical correlate; normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); non-specific gliosis with suspicion for myoneural disorder; complex respiratory pattern consisting of expiratory hypopneas, central appearing apneas, and questionable apneustic breathing; non-invasive ventilation; normal response to medications/anesthesia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| Age/Diagnosis |
03y06m |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| 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 14:23:32 +01:00 (CET) |
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