Phenotype #0000347851

Individual ID 00114686
Associated disease SCKL
Diagnosis/Initial Seckel syndrome
Diagnosis/Definite MOPD2
Phenotype details Normal skeletal survey. Receding forehead, high nasal bridge, prominent nose, retrognathia. 5th finger clinodactyly. Proportionate short stature. Motor delay; MRI thin corpus callosum, increased extra-axial spaces, reduced white matter; 46XY
Inheritance Familial, autosomal recessive
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2025-01-18 11:45:20 +01:00 (CET)
Date last edited 2025-01-18 11:45:58 +01:00 (CET)

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