Phenotype #0000332695
| Individual ID |
00443353 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term, weight 3.5 kg (56th), ; weight 70 kg (78th), height 165 cm (61rd), OFC 54 cm (38th); severe global developmental delay/intellectual disability; single words; 1y-sit; 4y6m-walk; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; Clumsy gait; no tics, no tic-like vocalizations; Parkinsonism; stooping of the body; lateral flexion body; postural instability; no urinary incontinence; 35y-suspected complex, partial seizures; EEG right spike wake discharge; aggression; self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; prognathia; Premature aging, Regression starting at the age 30 years; MRI brain Hypoplasia of posterior corpus callosum, agenesis of the anterior commissure, short midbrain, cerebellar vermis hypoplasia, multiple ring-enhancing abscesses with surrounding vasogenic edema, ventriculitis and hydrocephalus |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
37y (37 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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