Phenotype #0000216382
| Individual ID |
00281804 |
| 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, ectopic pituitary; normal skin; cortical vision impairment, no cataracts; normal heart; laryngomalacia, oxygen by nasal canula during sleep; feeding difficulties, gastrostomy tube; normal urinary tract; no recurrent fever/frequent viral infections; soft tissue syndactyly of fingers 3 and 4 bilaterally, partial; flat occiput, brachycephaly, high anterior hair line with frontal balding, tall forehead, full cheeks, medial eyebrow flare, left epicanthal fold, pointed superior helices ears, upturned nasal tip |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
1y6m (1 year, 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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