Phenotype #0000347518

Individual ID 00459444
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., severe muscular hypotonia, respiratory distress; secondary microcephaly; severe intellectual disability; no expressive language; delayed motor development, not walking; progressive spasticity; no ataxia; seizures; severe contractures; club feet; 1m/21m/6y-neuroimaging cerebella hypoplasia, delayed myelination (detailed in paper)
Inheritance Familial, autosomal recessive
Age/Examination 6y (6 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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