Phenotype #0000230312
| Individual ID |
00303228 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay; severe muscular hypotonia; smiles in response, listens to voice, turns head, raises head slightly, watches person, reaches toward objects, no grasp, no sitting, no rolling over; no speech; seizures; EEG abnormal; reduced pain sensation; no crying without tears; ECG-no reduced heart rate variability; no reduced sweating; constant fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations, still presen, oxygen dependent; no thyroid dysfunction; neonatal history hypoglycemia; no (pan)hypopituitarism; no low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; no diarrhea; stool bulky, copious and more frequent during the day (2-3 times), sometimes even watery; elbow and knee joint contractures, long fingers since birth; no genital abnormalities; no hearing loss; no eye abnormalities; micrognathia, broad nasal bridge, long philtrum, high palate, small mouth, low-set ears; congenital hypertrichosis; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
01y04m (1 year, 4 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 10:59:18 +02:00 (CEST) |
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