Phenotype #0000230293
| Individual ID |
00303209 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., severe global developmental delay, severe intellectual disability; moderate muscular hypotonia; grasp, rolling over, sitting unsupported, standing with support, walking few steps with support; no speech; no seizures; EEG abnormal; reduced pain sensation; self-mutilation; crying without tears; ECG-reduced heart rate variability; reduced sweating; no fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; neonatal history hypoglycemia; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; obstipation; no diarrhea; malabsorption, hyperintense pancreas in ultrasound; contractures of 3rd finger on left and 4th finger on right hand, cutaneous syndactyly of 2nd and 3rd toes, pes calcaneus, scoliosis, reduced bone age; no genital abnormalities; no hearing loss; esotropia; short palpebral fissure, epicanthus, 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 |
12y (12 years) |
| 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 10:52:26 +02:00 (CEST) |
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