Phenotype #0000233327
| Individual ID |
00307906 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay; severe generalized muscular hypotonia; no grasp, no rolling over, no sitting; seizures, related to hypoglycemia; EEG abnormal; no reduced pain sensation; no self-mutilation; intermittentt fever without focus/temperature dysregulation; repeated episodes of apnea and/or desaturations; no thyroid dysfunction low fT3, fT4; neonatal history hypoglycemia; no growth hormone deficiency; (pan)hypopituitarism low FSH, TSH; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; exudative enteropathy necessitating partial parenteral nutrition; no skeletal abnormalities; no genital abnormalities; hearing loss; no eye abnormalities; high forehead, depressed nasal bridge, small mouth; no increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
00y04m (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 |
2020-08-22 14:21:18 +02:00 (CEST) |
| Date last edited |
2020-08-23 10:53:15 +02:00 (CEST) |
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