Phenotype #0000330253

Individual ID 00047958
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite CSS1
Inheritance Isolated (sporadic)
Phenotype details birth 41w+1; moderate intellectual disability; moderate speech delay; no coarse facial features; thick eyebrows; low frontal hairline; no hypertrichosis; no brachydactyly; no brachydactyly fifth finger; no hypoplastic nails; no hypoplastic nail fifth finger; agenesis corpus callosum; pectus excavatum; abnormal palmar creases; striped toe nails
Age/Examination 03y06m (3 years, 6 months)
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 18:26:04 +01:00 (CET)
Date last edited N/A

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