Phenotype #0000323902

Individual ID 00433427
Associated disease MRXSSB
Phenotype details Intellectual disability, mild, Delayed speech and language development, Global developmental delay, Sacral segmentation defect, Abnormal neural tube morphology, Syringomyelia, Abnormal conus terminalis morphology, Hypotonia, Smooth philtrum, Thin vermilion border
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis -
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 2023-03-08 14:59:25 +01:00 (CET)
Date last edited 2023-03-08 16:11:03 +01:00 (CET)

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