Phenotype #0000346282

Individual ID 00457834
Associated disease BRMUTD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Myotonia, Macrocephaly, Axial hypotonia, Gait disturbance, Frontal bossing, Low-set ears, Wide intermamillary distance, Hydrocephalus, Motor delay, Short attention span
Inheritance Isolated (sporadic)
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-11-20 12:39:09 +01:00 (CET)
Date last edited 2024-11-20 15:23:45 +01:00 (CET)

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