SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/1300117002
http://purl.bioontology.org/ontology/SNOMEDCT/1300117002
Preferred Name

Luscan Lumish syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or nevi have also been reported. A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioural difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or naevi have also been reported.
Synonyms
SETD2 (SET domain containing 2, histone lysine methyltransferase) related overgrowth syndrome
SETD2-related overgrowth syndrome
Luscan Lumish syndrome (disorder)
SET domain containing 2, histone lysine methyltransferase related overgrowth syndrome
Type http://www.w3.org/2002/07/owl#Class
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