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Results 1 - 3 of 3 for Multiple congenital "anomalies-hypotonia-seizures" syndrome 1
  1. PIGN gene 
    ... PIGN gene can also cause a condition called multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Many of the signs and symptoms seen ... U. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital ... study. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022. ...
    https://medlineplus.gov/genetics/gene/pign - Genetics
  2. Fryns syndrome 
    ... U. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022. ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  3. PIGT gene 
    ... 10.1136/jmedgenet-2013-101654. Epub 2013 May 1. Citation on PubMed Nakashima M, Kashii ... syndrome 3. Neurogenetics. 2014 Aug;15(3):193-200. ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics