Phenotype #0000159659

Individual ID 00211176
Associated disease MR;ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details height 104cm (-4.0SD), head circumference 46.5cm (-4.5SD), moderate intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth, hepatomegaly; MRI brain generalized atrophy, enlargement of ventricles
Inheritance Familial, autosomal recessive
Age/Examination 08y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2018-12-31 10:16:24 +01:00 (CET)
Date last edited N/A

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