Phenotype #0000304318

Individual ID 00412313
Associated disease MRT13
Phenotype details Microcephaly, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Short stature, Pain insensitivity, Neurodevelopmental delay, Posterior atrophy of corpus callosum, Self-injurious behavior
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2022-06-27 14:51:58 +02:00 (CEST)
Date last edited 2022-06-27 15:06:35 +02:00 (CEST)

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