Phenotype #0000332713
| Individual ID |
00443371 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth at term; weight 42kg (1st), height 140cm (below the 1st), OFC 53cm (8th); severe global developmental delay/intellectual disability; single words; 4y-sit; 7y-supportedwalk, short time independent, broad based walk; no impaired smooth eye movements; no impaired saccades; no limited upgaze; no spasticity; cerebellar ataxia; upper limb ataxia; abnormal gait, unsteady; tremor; Mild ; Present ; tics and tic-like vocalizations; stooping of the body; lateral flexion body; no scoliosis; postural instability; not toilet trained; no seizures; EEG normal; no autism; no aggression; no self-injury; no tantrum temper; no sleep disturbance; no coarse face; no deep set eyes; no lateral upslanting palpebral fissures; no broad nose, no depressed nasal bridge; no thin upper lip; no everted lower lip; Mild ; Hand stereotipies, Hyperactive, chronic iliac vein thrombosis; MRI brain Partial agenesis of the corpus callosum, incomplete hippocampal rotation, agenesis of the anterior commissure, ventriculomegaly, short midbrain, and inferior vermis hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
20y (20 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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