Phenotype #0000296511
| Individual ID |
00403831 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDMIGS |
| Phenotype details |
uchal cord, altered fetal heart rate, bradycardia during fetal delivery (arround 10min), birth 40w, length 48cm, weight 2840g; OFC35 cm; weight 40.7 kg (< 3rd percentile), height 149 cm (< 3rd percentile), OFC 51 cm (< 3rd percentile); delayed motor development; smile to comunicate; never walked; no speech, smile and babble to communicate ; no regression; severe intellectual disability; IQ not assessable; minimally conscious state; axial hypotonia (congenital); 12y-spastic quadriplegia; 1.5m-epilepsy, infantile spasms, tonic seizures (6-10/day, trigger shower, emotive state, discomfort state; EEG generalized spike and slow waves; normal sleep; MRI brain 16y-cerebellar and frontal global atrophy and corpus callosum splenium hypotrophy, CT scan 22y-no obvious change; normal abdominal ultrasound; petechia on legs with 1 hypopigmented spot ; no dysmorphism; osteopenia, severe scoliosis with arthrodesis ; inferior and superior limb and elbow retractions ; Megaloblastic anemia persistent under folate supplementation , Wolf Parkinson white syndrome, COPD, drooling patient under scopoderm, fed by gastrostomia (nothing through per os); Supraventricular tachycardia under cordarone treatment, Disease progression stable |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
23y (23 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 |
2022-02-24 15:46:26 +01:00 (CET) |
| Date last edited |
2025-07-23 09:52:45 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
