Phenotype #0000331106

Individual ID 00441681
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., microcephaly; global developmental delay; 12m-sit; language delayed; moderate intellectual disability; no seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; scoliosis; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes normal;
Inheritance Familial, autosomal recessive
Age/Examination 17y (17 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 2023-11-09 12:18:41 +01:00 (CET)
Date last edited N/A

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