The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review

American Journal of Medical Genetics, Part A

Volumn 167, Issue 9, 2015, Pages 2176-2181

  Couser, Natario L ^a   Masood, Maheer M ^a   Strande, Natasha T ^a   Foreman, Ann Katherine M ^a   Crooks, Kristy ^a   Weck, Karen E ^a   Lu, Mei ^a   Wilhelmsen, Kirk C ^a   Roche, Myra ^a   Evans, James P ^a   Berg, Jonathan S ^a   Powell, Cynthia M ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Exome sequencing; Multiple congenital anomalies hypotonia seizures syndrome 1(MCAHS1); North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES); PIGN gene

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONVERGENT STRABISMUS; CRYPTORCHISM; DISEASE SEVERITY; EPILEPSY; FUNNEL CHEST; GENE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYDRONEPHROSIS; HYPERMETROPIA; HYPOREFLEXIA; KIDNEY DUPLICATION; MALE; MEXICAN AMERICAN; MICROPENIS; MISSENSE MUTATION; MULTIPLE CONGENITAL ANOMALY HYPOTONIA SEIZURE SYNDROME 1; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; PIGN GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT ASPIRATION; SPECTACLES; STOMACH TUBE; VISUAL IMPAIRMENT; EXOME; GENETICS; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; SEIZURE; SYNDROME;

GLYCOSYLPHOSPHATIDYLINOSITOL ETHANOLAMINE PHOSPHATE TRANSFERASE 1, HUMAN; PHOSPHOTRANSFERASE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; EXOME; HUMANS; MALE; MUSCLE HYPOTONIA; MUTATION, MISSENSE; PHENOTYPE; PHOSPHOTRANSFERASES; SEIZURES; SYNDROME;

EID: 84939430248     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37129     Document Type: Article

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