Phenotype #0000296509

Individual ID 00403828
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDMIGS
Phenotype details see paper; ..., short, microcephaly; profound global developmental delay; not walking; severe intellectual disability, profound global developmental delay; muscular hypotonia; epilepsy; abnormal visual fixation; dysmorphism; gray sclera; scoliosis; Patent ductus arteriosus, Dysphagia
Inheritance Familial, autosomal recessive
Age/Examination 18y (18 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 2022-02-24 12:44:57 +01:00 (CET)
Date last edited 2022-02-24 14:53:11 +01:00 (CET)

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