Phenotype #0000232563

Individual ID 00306729
Associated disease MPS4B
Phenotype details HP:0003330 Abnormal bone structure
HP:0001999 Abnormal facial shape
HP:0000943 Dysostosis multiplex
HP:000320 Skeletal muscle atrophy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 13y
Age/Onset 13y
Phenotype/Onset -
Protein -
Owner name Sarah Snanoudj
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Sarah Snanoudj
Date created 2020-07-16 16:34:05 +02:00 (CEST)
Date last edited 2020-07-20 09:03:29 +02:00 (CEST)

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