Phenotype #0000230305
| Individual ID |
00303221 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., moderate global developmental delay, moderate intellectual disability; mild muscular hypotonia; rolling over, sitting unsupported, stand with support; speech impairment, short sentences, dysarthria; no seizures; reduced pain sensation, no self-mutilation, no crying without tears; no reduced sweating, no fever without focus/temperature dysregulation, no repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia, no growth hormone deficiency, no (pan)hypopituitarism; low hemoglobin, no thrombocytopenia; no exocrine pancreatic insufficiency, obstipation, diarrhea; no hearing loss; no eye abnormalities; short palpebral fissures, broad nasal bridge, anteverted nares, low-set columella, full lips, pointed chin, broad ear helix; autism spectrum disorder, attention deficit hyperactivity disorder; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; small penis, unilateral undescended testis, phimosis |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
09y08m (9 years, 8 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 10:08:39 +02:00 (CEST) |
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