Phenotype #0000233328
| Individual ID |
00307907 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay, severe intellectual disability; pronounced muscular hypotonia; grasp, rolling over, no sitting, standing with support, no walking; no speech; focal and generalizing seizures; EEG abnormal; reduced pain sensation; self-mutilation; crying without tears; ECG-reduced heart rate variability; reduced sweating; constant fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; neonatal growth hormone deficiency; (pan)hypopituitarism; low hemoglobin; thrombocytopenia; exocrine pancreatic insufficiency; obstipation; no diarrhea; markedly inflated stomach; cutaneous syndactyly of 2nd and 3rd toes, reduced bone age, furcate rib right; small penis, undescended testes; no hearing loss; esotropia; short palpebral fissure, depressed nasal bridge, hypoplastic alae, small mouth, high palate; increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
07y05m (7 years, 5 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 14:26:59 +02:00 (CEST) |
| Date last edited |
2020-08-23 10:51:59 +02:00 (CEST) |
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