Phenotype #0000230306
| Individual ID |
00303222 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay; severe generalized muscular hypotonia; very reduced spontaneous movements, rolling over; speech delayed, single words; febrile seizures; EEG abnormal; reduced pain sensation; no self-mutilation; crying without tears; ECG-no reduced heart rate variability; reduced sweating; fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; central thyroid dysfunction; no history hypoglycemia; growth hormone deficiency; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; obstipation; diarrhea; hepatomegaly; no skeletal abnormalities; no genital abnormalities; no hearing loss; hyperopia; high forehead, depressed nasal bridge, short nose, small mouth; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; pituitary hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
01y (1 year) |
| 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 10:57:54 +02:00 (CEST) |
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