Phenotype #0000330189

Individual ID 00440292
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite CSS1
Phenotype details see paper; ..., birth 40w; intellectual disability.developmental delay; partial agenesis corpus callosum; autism spectrum disorder; no speech; seizures; hypotonia; low hairline; broad nasal tip; thin vermilion upper lip; infancy feeding problems/failure to thrive; myopia, strabismus
Inheritance Isolated (sporadic)
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2023-10-31 19:36:26 +01:00 (CET)
Date last edited N/A

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