Phenotype #0000356223

Individual ID 00471384
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details no dystonia, normal posture; developmental delay, hypotonia; intellectual disability; speech impairment; motor impairment; failure to thrive; seizures (1/2)
Inheritance Familial, autosomal recessive
Age/Examination -
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 2025-12-19 19:42:31 +01:00 (CET)
Date last edited 2025-12-20 08:48:11 +01:00 (CET)

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