Phenotype #0000066676

Individual ID 00087075
Associated disease PRLTS
Phenotype details see paper; profound congenital sensorineural hearing loss, premature ovarian failure, short stature, microcephaly, seizures, moderate learning difficulties, truncal/cerebellar ataxia with signs of lower limb spasticity, ...
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2016-11-10 10:17:19 +01:00 (CET)
Date last edited 2016-11-10 10:22:05 +01:00 (CET)

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