Phenotype #0000238612
| Individual ID |
00314854 |
| Associated disease |
? |
| Diagnosis/Initial |
progressive motor neuron disease |
| Diagnosis/Definite |
HSAN9 |
| Phenotype details |
see paper; ..., normal facial shape (-HP:0001999); no brachycephaly (-HP:0000248); normal age walking; normal speech; no global developmental delay (-HP:0001263); no intellectual disability (-HP:0001249); no behavioral abnormalities (-HP:0000708); no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); generalized hyperreflexia (HP:0007034); muscular hypotonia (HP:0001252) trunk, upper limbs; muscular hypertonia (HP:0001276) lower limbs; dysarthria (HP:0001260); peripheral neuropathy (HP:0009830); visual impairment (HP:0000505), strabismus, oculomotor apraxia; muscle atrophy, EMG: severe neurogenic pattern, joint retraction, ankle clonus, tongue fasciculations, spastic gait; no recurrent respiratory infections (-HP:0002205); abnormal corpus callosum morphology (HP:0001273), mild thinning; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); non-invasive ventilation; |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
15y (15 years) |
| Age/Diagnosis |
- |
| 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 14:24:53 +01:00 (CET) |
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