Phenotype #0000078656
Individual ID |
00100456 |
Associated disease |
? |
Diagnosis/Initial |
- |
Diagnosis/Definite |
- |
Phenotype details |
Cerebellar dysplasia; Abnormality of the cerebellar vermis; Thin corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic hemiparesis;Ataxia; Intellectual disability, mild;Congenital microcephaly;Strabismus;Optic nerve hypoplasia (left); |
Inheritance |
Familial, autosomal dominant |
Age/Examination |
- |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Protein |
- |
Tumor/MSI |
- |
Diagnosis/Criteria |
- |
Owner name |
Enza Maria Valente |
Database submission license |
No license selected |
Created by |
Enza Maria Valente |
Date created |
2017-02-27 17:26:01 +01:00 (CET) |
Date last edited |
2017-03-02 12:56:56 +01:00 (CET) |
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