Phenotype #0000296510
| Individual ID |
00403829 |
| Associated disease |
ID |
| Diagnosis/Initial |
syndromic intellectual disability |
| Diagnosis/Definite |
NEDMIGS |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
see paper; ...,normal birth growth parameters; weight 21 kg (-7.5 SD), height 124 cm (-5.9 SD)50.5 cm (<3rd percentile); global developmental delay, failure to thirve, severe growth deficiency; ambulates with assistance; severe intellectual disability; IQ30; 10m-epilepsy; MRI brain mild ventriculomegaly, multiple arachnoid cysts in the middle cranial fossae bilaterally and the right cerebellopontine angle with the largest in the right middle cranial fossa (5.0 x 3.0 cm, casuses mild mass effect on the right temporal lobe). Volume loss in the frontal lobes anteriorly, multiple T2/FLAIR white matter signal abnormalities in the subcortical white matter.; negative urine organic acids and GAGs, Tandem MS, plasma lactate, uric acid, lipid profile; extensive mongolian spots skin; dysmorphism, coarse facial features; bilateral strabismus, gray sclera |
| Age/Examination |
15y06m (15 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| 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 12:51:50 +01:00 (CET) |
| Date last edited |
2022-02-24 14:48:49 +01:00 (CET) |
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