Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome

The SETD2‐related overgrowth syndrome is also called “Luscan‐Lumish syndrome” (OMIM 616831) with the clinical characteristics of intellectual disability, speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. We report on two novel patients a 4.5‐year‐old boy and a 23‐year‐ol...

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Veröffentlicht in:	American journal of medical genetics. Part A 2018-05, Vol.176 (5), p.1212-1215
Hauptverfasser:	van Rij, Maartje C., Hollink, Iris H. I. M., Terhal, Paulien Anna, Kant, Sarina G., Ruivenkamp, Claudia, van Haeringen, Arie, Kievit, J. Anneke, van Belzen, Martine J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Autism Spectrum Disorder - diagnosis Autism Spectrum Disorder - genetics Child, Preschool Constipation DNA Copy Number Variations Facies Female Frameshift Mutation Genetic Association Studies Heterozygote Histone-Lysine N-Methyltransferase - genetics Humans Intellectual Disability - diagnosis Intellectual Disability - genetics Luscan‐Lumish syndrome Macrocephaly Male Megalencephaly - diagnosis Megalencephaly - genetics Mutation obesity OMIM 616831 overgrowth Pain Phenotype Phenotypes Polymorphism, Single Nucleotide Polyps SETD2 Sotos‐like syndrome Speech Syndrome Tongue Young Adult
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