Phenotype #0000295654

Individual ID 00402903
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details no perinatal findings; intellectual disability, motor delay; spastic-dystonic paraplegic cerebral palsy; MRI brain ventriculomegaly, colpocephaly, elongation of the left Sylvian fissure to the periventricular white matter; precocious puberty, 3y-leukemia
Inheritance Familial, autosomal recessive
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset 1d
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 2022-02-14 10:40:27 +01:00 (CET)
Date last edited N/A

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