Phenotype #0000332718
| Individual ID |
00443376 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 39w NVD, weight 3kg (18th), height 50cm (48th), OFC 34 cm (20th); weight 26kg (73rd), height 115cm (10th), OFC 52cm (50th); moderate global developmental delay/intellectual disability; speech delay, till now single word; 2y-sit; 3y-walk; squint; impaired saccades; limited upgaze; Mild hypertonia; no spasticity in upper limbs; Mild hypertonia; cerebellar ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); 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 all the time, urinary incontinence especially in laughing; no orthostatic hypotension; no seizures; EEG normal; autism; no aggression; no self-injury; tantrum temper; sleep disturbance; Mild; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; V-shaped; everted lower lip; no prognathia; Long face; MRI brain Small anterior commissure with normal corpus callosum |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
7y (7 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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