Phenotype #0000332702
| Individual ID |
00443360 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth weight 3.4kg (48th) , height 49.5 cm (51st, +0.02SD) , OFC 34.3cm (37th), ; weight 82kg (90th), height 152cm (5th), OFC 55.1cm (73rd); moderate global developmental delay/intellectual disability; few words; 2y-sit; 6y-walk; no impaired smooth eye movements; impaired saccades; limited upgaze; spasticity (did operation for tendon release); velocity dependent spasticity present; no spasticity in upper limbs; mild spasticity in lower limbs; cerebellar ataxia ; Ataxic and spastic; tremor; head tremor infrequent; hand tremor (at rest, posture, movement); no tics, no tic-like vocalizations; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no urinary incontinence; no orthostatic hypotension; 2y-GTC seizures, occasionaly; EEG multifocal spike; autism; aggression; self-injury; tantrum temper; 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; Hyperactive; MRI brain Short midbrain and inferior vermis hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
17y (17 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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