Phenotype #0000330229
| Individual ID |
00440332 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NDAGSCW |
| Phenotype details |
height 170.2cm (-0.96SD), weight 70.3 kg (-0.05SD); no microcephaly (-HP:0000252); 11m-walk; 10m-first words, difficulty enunciating R's 7y-visited speech therapist; no global developmental delay (-HP:0001263); no intellectual disability (-HP:0001249); no behavioral abnormalities (-HP:0000729) (-HP:0000708); no visual impairment (-HP:0000505); no optic nerve abnormalities (-HP:0000609); no refraction abnormalities (-HP:0001257); no strabismus (-HP:0000486); seizures (HP:0001250), 20y-self-resolved; no dystonia (-HP:0001332); no spasticity (-HP:0001257); no hypotonia (-HP:0001252); limb hypertonia (HP:0002509), very mild difficulty handwriting (very light/low pressure), required physical therapy; no gait ataxia (-HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); EEG abnormalities (HP:0002353); ventriculomegaly (HP:0002119), hydrocephalus; no small cerebral cortex (-HP:0002472); normal corpus callosum morphology (-HP:0001273); normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); congenital hydrocephalus; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
22y (22 years) |
| 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 |
2023-11-01 12:22:08 +01:00 (CET) |
| Date last edited |
N/A |
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