Phenotype #0000230302
| Individual ID |
00303218 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay, intellectual disability; severe axial muscular hypotonia; sits, no standing, no walking; no speech; no seizures; EEG normal; no reduced pain sensation, no self-mutilation, crying without tears, ECG-no reduced heart rate variability; no reduced sweating, no fever without focus/temperature dysregulation, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; normal hemoglobin, no thrombocytopenia; no obstipation, no diarrhea; kyphosis; no hearing loss; no eye abnormalities; high forehead, broad and depressed nasal bridge; no increased intra- and extra-axial cerebrospinal fluid spaces, delayed myelination, no pituitary anomalies; small penis |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
03y06m (3 years, 6 months) |
| 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 |
2020-06-08 15:20:20 +02:00 (CEST) |
| Date last edited |
2020-08-23 10:06:07 +02:00 (CEST) |
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