Phenotype #0000106835

Individual ID 00134082
Associated disease MMDD
Phenotype details global developmental delay, muscular hypotonia, joint contractures (leg), no speech, hydrocephalus, cryptochism, CK elevation (2500 U/l)
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 08y (8 years)
Age/Diagnosis 07y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2017-11-24 15:25:22 +01:00 (CET)
Date last edited 2018-04-05 13:23:32 +02:00 (CEST)

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