Phenotype #0000216383
| Individual ID |
00281805 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; spasticity; increased upper limb/lower limb tendon reflexes ; infantile spasms; MRI-brain focal thinning of corpus callosum; normal skin; suspected cortical vision impairment (not confirmed); mild tricuspid valve regurgitation, mild mitral valve regurgitation; mild tricuspid valve regurgitation, mild mitral valve regurgitation; feeding difficulties, gastrostomy tube, gastro-esophageal reflux; vesicoureteric reflux, right grade III/IV and left grade III; recurrent fever/frequent viral infections; syndactyly of toes 2, 3, and 4; horizontal eyebrows, low-set ears, depressed nasal bridge, large mouth with prominent lips, slight retrognathia; gingival hyperplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y5m (1 year, 5 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-02-03 19:33:41 +01:00 (CET) |
| Date last edited |
N/A |
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