Phenotype #0000332697
| Individual ID |
00443355 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term, weight 3.1 kg (23rd), height 49 cm (33rd), OFC 31 cm (below the 2nd); weight 65 kg (32nd), height 167 cm (9th), OFC 52 cm (2nd); severe global developmental delay/intellectual disability; no speech; 1y6m-sit; not walking; spasticity; spasticity in lower limbs; cerebellar ataxia; not walking; tics and tic-like vocalizations; Parkinsonism; stooping of the body; lateral flexion body; urinary incontinence; 2y-seizures, suspected complex, partial; EEG bilateral poly spike discharge; aggression; self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; prognathia; Premature aging, Club foot, Urinary incontinence; |
| 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 |
2023-11-25 19:15:23 +01:00 (CET) |
| Date last edited |
N/A |
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