Phenotype #0000216380
| Individual ID |
00281802 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; no spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes; infantile spasms; MRI-brain focal thinning of corpus callosum, gray matter heterotopias; dry skin and hypohidrosis; bilateral cataract; normal heart; normal lungs; feeding difficulties, gastrostomy tube; bilateral vesicoureteric reflux grade II; recurrent fever/frequent viral infections; drop foot; craniofacial features thick eyebrows, deep-set eyes, short nasal bridge with anteverted nares, large mouth with prominent lower lip, protruding tongue; gingival hyperplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
4y6m (4 years, 6 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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