Phenotype #0000325299

Individual ID 00435062
Associated disease NDD
Diagnosis/Initial NDD
Diagnosis/Definite -
Phenotype details see paper; ..., deceased; global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain periventricular signal hyperintensity interpreted as suspected delayed myelinization; hypotonia; no seizures; microcephaly; optic atrophy; no prenatal findings; coarse face, broad nose and flat nasal bridge
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 2023-05-05 15:10:52 +02:00 (CEST)
Date last edited N/A

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