Phenotype #0000332717
| Individual ID |
00443375 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term, weight 2.61kg (the 5th), height 46 cm (the 2nd), OFC 35 cm (35th); weight 12.8 kg (below 0.4th), height 88.5 cm (below 0.4th), OFC 48 cm (5th); moderate global developmental delay/intellectual disability; few words; 10m-sit; not walking; no impaired smooth eye movements; no impaired saccades; no limited upgaze; spasticity; velocity dependent spasticity present; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; Not able to walk; tremor; head tremor; hand tremor (at rest, posture, movement); no Parkinsonism; stooping of the body; lateral flexion body; scoliosis; no leg/foot dystoniat able to be perform; postural instability; urinary incontinence; no orthostatic hypotension; no seizures; no autism; aggression; no self-injury; no tantrum temper; sleep disturbance; no coarse face; no deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Hyperactive; MRI brain Posterior corpus callosum hypoplasia, absent anterior commissure, minimal white matter volume loss, bilateral incomplete hippocampal rotation, slightly short midbrain, T2 hyperintensity of the central tegmental tracts, and hypertrophy of the clava. |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
4y (4 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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