Phenotype #0000283598

Individual ID 00390059
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Severe intellectual disability, developmental delay, congenital muscular dystrophy, absent speech, sensorineural hearing loss, hyperCkemia, stereotypies, severe visual impairment, cataract, hyperactivity, behavioral abnormalities, macular dystrophy
Inheritance Familial, autosomal recessive
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-11-09 16:34:00 +01:00 (CET)
Date last edited N/A

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