Phenotype #0000332700
| Individual ID |
00443358 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth 37w, weight 2.2 kg (2nd), height 46 cm (4th), OFC 31.5 cm (3rd); weight 78 kg (71st) , height 162 cm (2nd), OFC 54 cm (23rd); severe global developmental delay/intellectual disability; single words; 1y-sit; 2y6m-walk; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; spasticity in lower limbs; no cerebellar ataxia; no upper limb ataxia; abnormal gait; tremor; no 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; no leg/foot dystonia; no postural instability; no seizures; EEG normal; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; thin upper lip ; everted lower lip ; prognathia; Short philtrum, epicanthus, telecanthus, Cryptorchidism, hypospadias, high myopia (paternal), muscular hypotonia, anxious, very friendly, hyperactive; MRI brain normal |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
20y (20 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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