Phenotype #0000230294
| Individual ID |
00303210 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay; severe muscular hypotonia; no grasp, no rolling over, no sitting; seizures, related to hypoglycemia; EEG normal; no reduced pain sensation; crying without tears; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction low fT4; history hypoglycemia; growth hormone deficiency; (pan)hypopituitarism low FSH, GH; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; no obstipation; diarrhea; enteral bleeding; 2nd overlaps 3rd finger, 5th overlaps 4th toe; small penis, scrotum bipartium, undescended testis; no 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 |
00y06m (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 10:52:54 +02:00 (CEST) |
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