Phenotype #0000239766
| Individual ID |
00316021 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
birth weight 3320 gr (0.02 SD), OFC 32 cm (-2.4 SD); 20y-OFC 54.5 cm (1.3 SD); severe intellectual disability; microcephaly at birth; hypertonia extremities; first words-28m, walks-3.5y.; anxiety; hand stereotypies, autistic traits, short attention span, agressive bursts; spasticity lower limbs, with increased deep tendon reflexes and extensor reflex, scissors gait; truncal ataxia, spastic-dyspraxic gait, dysmetria; intention tremor, dystonicmovements; progressive axonal and sensory neuropathy; MRI brain corpus callosum hypoplasia, bilateral Perisylvian polymicrogyria; 16y-hypertrophic cardiomyopathy with left moderate ventricular dysfunction, ejection fraction of 0.40; arched eyebrows, low-set thumbs, 2-3 toe syndactyly; conjunctival hyperemia, scoliosis, ocular movements: slow saccades, drooling, orofacial dyspraxia eeg bifrontal discharges without clinical seizures |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
20y (20 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 |
2020-11-01 12:39:14 +01:00 (CET) |
| Date last edited |
2020-11-01 13:06:11 +01:00 (CET) |
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