Phenotype #0000238609
| Individual ID |
00314851 |
| Associated disease |
INFM |
| Phenotype details |
see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no short stature (-HP:0004322); abnormal facial shape (HP:0001999),mild coarse face, short neck, retrocollis; no brachycephaly (-HP:0000248); pectus carinatum; 3y-walk; 4y-first words; 2-3 word sentences at age 4y; global developmental delay (HP:0001263); oderate intellectual disability (HP:0002342); behavioral abnormalities (HP:0000708), hyperactivity, impulsivity; no seizures (-HP:0001250); hyporeflexia lower limbs (HP:0002600); no generalized hyperreflexia (-HP:0007034); muscular hypotonia (HP:0001252); no muscular hypertonia (-HP:0001276); gait ataxia (HP:0002066); abnormality autonomic nervous system (HP:0002270), fainting/awake apnea, recurrent sudden loss of consciousness; no temperature instability (-HP:0005968); normal systemic blood pressure (-HP:0030972); no hyperhidrosis (-HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); no skin ulcer (-HP:0200042); hearing impairment (HP:0000365), mild bilateral neurosensory hearing defect; visual impairment (HP:0000505), astigmatism, myopia; arched palate (HP:0000174); bilateral lung disease, unilateral emphysema, bronchiectasis (HP:0012252); recurrent respiratory infections (HP:0002205); aspiration (HP:0002835); central hypoventilation (HP:0007110); nocturnal hypoventilation (HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); EEG normal (-HP:0002353); normal corpus callosum morphology (-HP:0001273); no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); no aplasia/hypoplasia cerebellar vermis (-HP:0006817); average of 12 apneic episodes per hour during sleep with peak O2 desaturation of 80% and pCO2 of 55 mmHg; neurogenic, sensory-motor swallowing defect; G-tube dependency; normal metabolism/homeostasis (-HP:0001939); |
| 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 14:29:35 +01:00 (CET) |
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