Phenotype #0000238610
| Individual ID |
00314852 |
| Associated disease |
INFM |
| Phenotype details |
see paper; ..., no premature birth (-HP:0001622); no small for gestational age (-HP:0001518); no congenital microcephaly (-HP:0011451); short stature (HP:0004322); no decreased body weight (-HP:0004325); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),"mild facial dysmorphism", retrocollis; no brachycephaly (-HP:0000248); small feet; scoliosis; 4y-walk; 10 partial words at age 7y; global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000708), restlessness, mood swings; 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), autonomic neuropathy (tested by SSR test), episodes of unexplained fever or hypothermia, bradycardia or hypertension, cold extremities, hyper or hyponatremic dehydration and sweating with pallor; temperature instability (HP:0005968); abnormal systemic blood pressure (HP:0030972); hyperhidrosis (HP:0000975); peripheral neuropathy (HP:0009830); impaired pain sensation (HP:0007328); skin ulcer (HP:0200042); hearing impairment (HP:0000365), decreased hearing; visual impairment (HP:0000505), esotropia; encephalopathy events; high arched palate (HP:0000174); normal respiratory system morphology (-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 abnormal (HP:0002353), encephalopathy pattern; normal corpus callosum morphology (-HP:0001273); mild cerebral atrophy (HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); recurrent arousals, apneas and retained pCO2 up to values of >100 mmHg while not ventilated; G-tube dependency; non-invasive ventilation; normal metabolism/homeostasis (-HP:0001939) |
| Diagnosis/Initial |
hereditary spastic paraparesis |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
HSAN9 |
| Age/Examination |
18y (18 years) |
| 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 14:26:44 +01:00 (CET) |
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