Phenotype #0000330226
| Individual ID |
00440329 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NDAGSCW |
| Phenotype details |
height 118 cm (-1.2SD), weight 21.5 kg (-0.8SD), OFC 52 cm (-0.44SD); no microcephaly (-HP:0000252); 18m-walk; 15m-first words, 5y6m-60 words, currently no words; severe global developmental delay (HP:0011344); severe intellectual disability (HP:0010864); behavioral abnormalities (HP:0000729) (HP:0000708), frequent laughing, autistic behavior (hand flapping, impaired social interactions); no visual impairment (-HP:0000505); no optic nerve abnormalities (-HP:0000609); no strabismus (-HP:0000486); no seizures (-HP:0001250); no dystonia (-HP:0001332); no spasticity (-HP:0001257); hypotonia (HP:0001252); no limb hypertonia (-HP:0002509); no gait ataxia (-HP:0002066); no nystagmus (-HP:0000639); no developmental hip dysplasia (-HP:0001385); no tapering fingers (-HP:0001182); no EEG abnormalities (-HP:0002353); no ventriculomegaly (-HP:0002119); no small cerebral cortex (-HP:0002472); normal corpus callosum morphology (-HP:0001273); normal cerebellar vermis morphology (-HP:0002334); normal brainstem morphology (-HP:0002363); 36w-premature birth; milk tooth set of teeth at an early stage (7-8m) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
7y (7 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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