Phenotype #0000332737
| Individual ID |
00443395 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term; weight 35kg (50th), OFC 50 cm (1st); global developmental delay/intellectual disability; speech delay; 1y-sit; 3y-walk; impaired smooth eye movements; impaired saccades; no limited upgaze; spasticity; no velocity dependent spasticity present; no spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Ataxic ; tremor; head tremor; hand tremor (at rest, posture, movement); tics and tic-like vocalizations; Abnormal choreoform movements; Abnormal choreoform movements; stooping of the body; lateral flexion body; no scoliosis; leg/foot dystonia; no postural instability; no urinary incontinence; no orthostatic hypotension; 9y-seizures, 1-2/month; EEG normal; Moderate; aggression ; no self-injury; no tantrum temper; no sleep disturbance; coarse face, more than elder brother; deep set eyes, more than elder brother; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Obesity; MRI brain Callosal hypoplasia with prevalent involvement of the posterior sections. Anterior commissure hypoplasia, |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y6m (11 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 |
2023-11-25 19:15:23 +01:00 (CET) |
| Date last edited |
N/A |
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