Phenotype #0000332738
| Individual ID |
00443396 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
31y-deceased; birth at term, weight normal, height normal, OFC normal; weight 101kg, height 80th, ; global developmental delay/intellectual disability; speech delay; spasticity; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; no upper limb ataxia; Spastic-ataxic; no tremor; no head tremor; no head tremor; Parkinsonism; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no seizures; EEG normal; autism; aggression; tantrum temper; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; everted lower lip; no prognathia; Pancytopenia with severe infections, diabetes mellitus, cirrhosis and renal failure. Obesity; MRI brain CT Brain from the report: Mild difuse brain atrophy and diffuse thickened cranial vault. Not independently reviewed. Brain MRI is not available. |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
25y (25 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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