Phenotype #0000332711
| Individual ID |
00443369 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
birth post 41w, weight 3.2kg (33th), height 49.5cm (51st), OFC 33 cm (11th); weight 25kg (85th), height 113cm (37th), OFC 51cm (53th); severe global developmental delay/intellectual disability; speech delay, few words; sit independently; walks supported; no impaired smooth eye movements; impaired saccades; limited upgaze; spasticity (operation for tendon release); Mild hypertonia; cerebellar ataxia; upper limb ataxia; abnormal gait, unsteady; tremor; Mild; Present; no tics, no tic-like vocalizations; Mild; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; urinary incontinence; no orthostatic hypotension; no seizures; EEG focal epileptogenic activity with secondary generalization; no aggression; no self-injury; tantrum temper; sleep disturbance; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; thin upper lip; no everted lower lip; no prognathia; Closed ASD, hand stereotipies, Hyperactive,Masturnation like movement daily; MRI brain Mild reduction of periventricular white matter and ventricular dilatation, hypoplasia of posterior corpus callosum, anterior commissure agenesis, incomplete hippocampal rotation, short midbrain, and inferior vermis hypoplasia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
6y (6 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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