Phenotype #0000332719
| Individual ID |
00443377 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term, weight 3kg (21th), height 49cm (33rd), ; weight 54kg (55th), OFC 53cm (2nd); severe global developmental delay/intellectual disability; no speech; sit independently; 8y-walk; impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; no velocity dependent spasticity present; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); Parkinsonian gait; upper limb dystonia on hand pronation-supination test; lateral flexion body, laterocolis; scoliosis, kyphoscoliosis; leg/foot dystonia; postural instability; urinary incontinence; no orthostatic hypotension; 11y-seizures, tonic-clonic, weekly; EEG abnormal; Some features; no aggression; self-injury; tantrum temper; no sleep disturbance; coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Very severe myopia; MRI brain Corpus callosum hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
15y (15 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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