Phenotype #0000330251

Individual ID 00047957
Associated disease ID
Diagnosis/Initial Coffin-Siris syndrome
Diagnosis/Definite CSS1
Inheritance Isolated (sporadic)
Phenotype details birth at termsevere intellectual disability; no speech; coarse facial features; thick eyebrows; no low frontal hairline; no hypertrichosis; joint laxity; no brachydactyly; no brachydactyly fifth finger; no hypoplastic nails; no hypoplastic nail fifth finger; anal atresia; double ureters
Age/Examination 46y (46 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2023-11-01 18:16:33 +01:00 (CET)
Date last edited N/A

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