SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1332384001
http://purl.bioontology.org/ontology/SNOMEDCT/1332384001
Preferred Name

CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome

Definitions
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviours. A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors.
Synonyms
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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