6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1682-1685

  Writzl, Karin ^a   Knegt, Alida C ^b  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

6p21.3 microdeletion; Absence; Epilepsy; Myoclonic; Speech delay; SYNGAP1

Indexed keywords

TOPIRAMATE; VALPROIC ACID;

ADENOIDECTOMY; ADL DISABILITY; ARTICLE; BLADDER SPHINCTER; CASE REPORT; CHILD; CHROMOSOME 6; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; CONDUCTION DEAFNESS; CUTA GENE; DEPTH PERCEPTION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; KIFC1 GENE; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MYRINGOTOMY; OPTIC DISK; PHENOTYPE; PHF1 GENE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; STRABISMUS; SYNGAP1 GENE; VISUAL SYSTEM EXAMINATION;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; DEVELOPMENTAL DISABILITIES; EPILEPSY; HUMANS; INTELLECTUAL DISABILITY; MALE; RAS GTPASE-ACTIVATING PROTEINS; SPEECH DISORDERS;

EID: 84879461420     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35930     Document Type: Article

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