Phenotype #0000257268
| Individual ID |
00361875 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., during pregnancy twin pregnancy, dizygotic, twin sister is healthy, pregnancy otherwhise uncomplicated; elective caesarian section because of twin pregnancy; birth 37w; profound intellectual disability; developmental delay; motor delay, can sit with support since approximately age 5y; speech delay; epilepsy, 3m-first seizure, tonic seizures at first, then tonic spasms of short duration, more recently, tonic, clonic, gelastic, and dacrystic with stereotypic movements; EEG abnormal, hypsarrhtymia and later multifocal discharges; 1d-hypotonia; 3y-spasticity, spasticity of lower limbs; Rett-like hand movements, head shaking; several awakenings; might be related to tonic seizures; 8m, 2y3m-MRI brain normal; no regression; hypoactive reflexes; prominent forehead, low nasal bridge, posteriorly rotated ears, widow's peak; 1y-no teeth; protruded tongue; no hearing abnormalities; strabismus; normal echocardiogram; no skeletal abnormalities, no limb abnormalities; hypermobility joints; gastroesophageal reflux with dysautonomic signs, Sandifer-like; 2x urinary tract infection, no urogenital abnormalities structural abnormality; no endocrine/metabolic abnormalities; no clinical suspicion for immunological testing; normal skin, normal hair, normal nails; no neoplasms |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
5y6m (5 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 |
2021-04-11 17:48:18 +02:00 (CEST) |
| Date last edited |
N/A |
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