Phenotype #0000230301
| Individual ID |
00303217 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay; severe generalized muscular hypotonia; some head support, no grasp, no rolling over, no sitting; no speech; febrile seizures; EEG normal; reduced pain sensation; self-mutilation; no crying without tears; ECG-no reduced heart rate variability; reduced sweating; constant fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; no thyroid dysfunction low fT4; neonatal history hypoglycemia; neonatal history hypoglycemia; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; obstipation; diarrhea; inflated stomach, hepatosplenomegaly, dense pancreatic structure in ultrasound; flexion contractures on elbows and knees, adducted thumbs, gracile ribs, extra pair of rudimentary ribs below the 12th; no genital abnormalities; hearing loss; myopia; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
01y10m (1 year, 10 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 10:57:35 +02:00 (CEST) |
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