Phenotype #0000332716
| Individual ID |
00443374 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 39w Cesarean section, weight 3kg (18th), height 49cm (33rd), OFC 34.2cm (23th); weight 34.3kg (35th), height 123cm (below the 1st), OFC 50cm (1st); moderate global developmental delay/intellectual disability; speech delay only words an letters; 2y-sit; 3y-walk; squint; impaired saccades; limited upgaze; Mild hypertonia; velocity dependent spasticity present; Mild; Hypertonia (did operation for tendon release at 10y); Mild ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); tics and tic-like vocalizations; no Parkinsonism; no upper limb dystonia on hand pronation-supination test; stooping of the body; lateral flexion body; no scoliosis; leg/foot dystonia; postural instability; urinary incontinence; no orthostatic hypotension; 2y-seizures myoclonic-tonic; EEG bitemporal epileptogenic focus; autism; no aggression; no 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; no prognathia; ASD, hand stereotypic movement, excessive laughing, hyperactive, polyphagia recently; MRI brain Small anterior commissure, mild white matter volume loss, bilateral incomplete hippocampal rotation, and hypertrophy of the clava |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
11y3m (11 years, 3 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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