Phenotype #0000233399
| Individual ID |
00307976 |
| Associated disease |
ID |
| Diagnosis/Initial |
intellectual diability |
| Diagnosis/Definite |
HSAN9 |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
see paper; ..., no premature birth (-HP:0001622); no short stature (-HP:0004322); decreased body weight (HP:0004325); microcephaly (HP:0000252); abnormal facial shape (HP:0001999),hypotelorism; no brachycephaly (-HP:0000248); tapered fingers (HP:0001155); no abnormality of the foot (-HP:0001760); no abnormality of skeletal morphology (-HP:0011842); not yet walking; no words; global developmental delay (HP:0001263); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000708), self-mutilation; seizures (HP:0001250), twice a day; no 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), lack of tearing, very high pain threshold; no temperature instability (-HP:0005968); normal systemic blood pressure (-HP:0030972); no hyperhidrosis (-HP:0000975); no peripheral neuropathy (-HP:0009830); impaired pain sensation (HP:0007328); skin ulcer (HP:0200042); no hearing impairment (-HP:0000365); opisthotonus; normal palate morphology (-HP:0000174); normal respiratory system morphology (-HP:0012252); recurrent respiratory infections (HP:0002205), bronchial asthma; no aspiration (-HP:0002835); no central hypoventilation (-HP:0007110); no nocturnal hypoventilation (-HP:0002877); gastroesophageal reflux at infancy (HP:0002020); vomiting (HP:0002013); no dysphagia (-HP:0002015); no chronic constipation (-HP:0012450); abnormal corpus callosum morphology (HP:0001273), hypoplasia; no cerebral atrophy (-HP:0002059); no cerebellar atrophy (-HP:0001272); aplasia/hypoplasia cerebellar vermis (HP:0006817); G-tube dependency |
| Age/Examination |
09y (9 years) |
| Age/Diagnosis |
08y |
| 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 |
2020-08-23 13:31:08 +02:00 (CEST) |
| Date last edited |
2024-02-23 14:40:21 +01:00 (CET) |
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