Phenotype #0000161628

Individual ID 00213153
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details moderate intellectual disability; no autism spectrum disorder; generalized seizure (1x); muscular hypotonia, spasticity; microcephaly (-2.5SD); cerebral atrophy, white-matter volume loss, thin CC, cerebellar hypoplasia predominant in inferior vermis; short stature
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-01-11 21:59:14 +01:00 (CET)
Date last edited N/A

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