Phenotype #0000300382
| Individual ID |
00408254 |
| Associated disease |
PCH |
| Phenotype details |
deceased 25m; birth 39w; no prenatal growth retardation; cerebellar vermis hypoplasia; profound hypotonia; swallowing defect, desaturation, respiratory distress, bradypnea; weight 7kg (-0.8 SD); height 42cm (-0.9 SD); dysphagia, nasogastric tube feeding; absent motor milestones; severe/profound global developmental delay; axial hypotonia; distal hypertonia; spastic tetraplegia; normal deep tendon reflexes; no seizure; MRI brain supratentorial normal, cerebellar hemisphere hypoplasia, cerebellar vermis hypoplasia, brainstem hypoplasia; abnormal ocular movement, suspicion of papillary edema or hypoplasia; microretrognathia; posterior cleft palate; no cardiac abnormalities; no gastrointestinal abnormalities; oxygen therapy required (nasal canula) |
| Diagnosis/Initial |
pontocerebellar hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
7m |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-04-18 12:15:20 +02:00 (CEST) |
| Date last edited |
N/A |
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