Phenotype #0000284207

Individual ID 00390719
Associated disease NDD
Diagnosis/Initial myotonic dystrophy
Diagnosis/Definite -
Phenotype details intrauterine growth retardation (-0.53 SD); short stature (-2.4SD); developmental delay; normocephaly, plagiocephaly; protruding ears, thin upper lip vermilion, downturned corners of the mouth; generalised hypotonia, joint hypermobility, mildly elevated creatine kinase levels, severe feeding difficulties
Inheritance Familial, autosomal dominant
Age/Examination 2y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2021-11-11 17:06:31 +01:00 (CET)
Date last edited N/A

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