Phenotype #0000332724
| Individual ID |
00443382 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth weight 1.972kg (below the 2nd), OFC 27 cm (below the 2nd); weight 22 kg (80th), height 104 cm (10th, -1.3SD), OFC 46 cm (1st); severe global developmental delay/intellectual disability; few words; unable to sit; not walking; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; spasticity in upper limbs; spasticity in lower limbs; Unable to ambulate; upper limb ataxia; abnormal gait on supported walking; tremor; head tremor; hand tremor (at rest, posture, movement); no Parkinsonism; stooping of the body; no lateral flexion body; no scoliosis; leg/foot dystonia; urinary incontinence; no seizures; no autism; no aggression; self-injury; tantrum temper; sleep disturbance; no coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; no prognathia; Flexible hand joints, low set coarse ears; long columella; MRI brain Partial agenesis of the corpus callosum and mild hypertrophy of the clava |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
5y6m (5 years, 6 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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