Phenotype #0000332696
| Individual ID |
00443354 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term, weight 3.1 kg (23rd), OFC 36 cm (52); weight 75 kg (64th), height 172 cm (26th), OFC 56 cm (73rd); severe global developmental delay/intellectual disability; single words; 1y-sit; 1y6m-walk; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; Glumsy gait; no tics, no tic-like vocalizations; Parkinsonism; stooping of the body; lateral flexion body; postural instability; no urinary incontinence; no seizures; EEG normal; aggression; self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; everted lower lip; prognathia; Premature aging; MRI brain Partial agenesis of the corpus callosum, anterior commissure hypoplasia, short midbrain, small cerebellar vermis, and focal periventricular white matter lesions |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
22y (22 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 |
|
Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.
|
