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Results 1 - 3 of 3 for Multiple congenital "anomalies-hypotonia-seizures" syndrome 3
  1. PIGT gene 
    ... PIGT gene also cause a rare condition called multiple congenital anomalies-hypotonia-seizures syndrome 3. Affected individuals have delayed development; seizures; low muscle ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  2. PIGN gene 
    ... PIGN gene can also cause a condition called multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Many of the signs and symptoms ... U. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital ... and neurologic phenotypes: A genotype-phenotype correlation study. ...
    https://medlineplus.gov/genetics/gene/pign - Genetics
  3. Fryns syndrome 
    ... U. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics