Phenotype #0000315269
| Individual ID |
00424061 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
no prenatal complications; birth at term; no postnatal complications; no developmental delay (-HP:0012758)/no intelletual disability (-HP:0001249); no neurodevelopmental regression (-HP:0002376); no seizures (-HP:0001250); full sentences and normal vocabulary for age; hypertonia (HP:0001276), spasticity (HP:0001257), ankle clonus; gait disturbance (HP:0001288), toe walking; no behavioral abnormalities (-HP:0000708); no autism/autistic-like behavior (-HP:0000717); no abnormal myelination (-HP:0012447); no structural brain anomalies; no astigmatism (-HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); no broad forehead (-HP:0000337); no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; urinary incontinence |
| Inheritance |
Familial, X-linked |
| Age/Examination |
12y (12 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 |
2022-11-16 15:06:22 +01:00 (CET) |
| Date last edited |
N/A |
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