SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1177167002
http://purl.bioontology.org/ontology/SNOMEDCT/1177167002
Preferred Name

Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, seizures, abnormal gait and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.
Synonyms
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder)
Skraban Deardorff syndrome
Type http://www.w3.org/2002/07/owl#Class
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