Phenotype #0000298302

Individual ID 00405805
Associated disease MRXSCJ
Phenotype details Infantile axial hypotonia HP:0009062, Limb hypertonia HP:0002509, Hypothyroidism HP:0000821, Hypermetropia HP:0000540, Exophoria HP:0025313, convergent strabismus HP:0020045,
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Emanuela Leonardi
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Emanuela Leonardi
Date created 2022-03-22 16:29:38 +01:00 (CET)
Date last edited 2022-03-28 11:44:55 +02:00 (CEST)

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