Phenotype #0000254818
| Individual ID |
00359563 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
OMIM #618709 |
| Phenotype details |
Developmental and speech delay and behavior problems appeared in infancy, strabismus, mild intellectual disability, attention deficit hyperactivity disorder (ADHD).
Brain MRI: rostrum hypoplasia; relative thickening of the genu and of the anterior part of the body of the corpus callosum; mild thickening and asimmetry of the fornices associated with persistence of a very small remnant of the septum pellucidum cave; bilateral hypoplasia and incomplete hippocampal inversion and asymmetric colpocephaly; reduced diameters of the third ventricle; stenotic cerebral acqueduct; quite severe pontine hypoplasia (antero-posterior and caudo-cranial diameters reduction) associated with slight dysmorphism of the midbrain; cerebellar hypoplasia especially involving the vermis; anterior pituitary diameters below the normal for age, in absence of other stalk or neuropituitary abnormalities; severe bilateral hypoplasia of olfactory sulcus and olfactory bulbs and tracts; very thin hypoplastic anterior commissure. |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
10y (10 years) |
| Age/Diagnosis |
14y |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Sara Nuovo |
| Database submission license |
No license selected |
| Created by |
Sara Nuovo |
| Date created |
2021-03-25 16:26:25 +01:00 (CET) |
| Date last edited |
2021-03-26 08:41:14 +01:00 (CET) |
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