Phenotype #0000347514

Individual ID 00459440
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., club feet, developmental delay; secondary microcephaly; moderate intellectual disability; delayed speech; delayed motor development; progressive spasticity predominantly lower extremities; dysmetric jerks, nystagmus; 19y-tonic-clonic seizures; normal vision; no hearing impairment; club feet; 21y-neuroimaging mild cerebral atrophy (detailed in paper)
Inheritance Familial, autosomal recessive
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset 0d
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 2025-01-04 12:10:18 +01:00 (CET)
Date last edited N/A

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