Phenotype #0000299846

Individual ID 00407699
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., developmental delay; microcephaly; speech delayed sentences; 1y-first words; 18m-walk; intellectual disability; behavior abnormality; febrile seizures; MRI brain normal; short stature; ophtalmological abnormality
Inheritance Familial, autosomal recessive
Age/Examination 8y (8 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 2022-04-07 21:57:45 +02:00 (CEST)
Date last edited N/A

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