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Results 1 - 10 of 141 for Multiple congenital anomalies
  1. ... PIGT gene also cause a rare condition called multiple congenital anomalies-hypotonia-seizures syndrome 3. Affected individuals have delayed ... leading to the varied signs and symptoms of multiple congenital anomalies-hypotonia-seizures syndrome 3. CGI-06 MCAHS3 NDAP ...
  2. ... 7 Genetic Testing Registry: Linear skin defects with multiple congenital anomalies 1 Microphthalmia with linear skin defects syndrome National ... Disorders (NORD) ClinicalTrials.gov LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1 PubMed Morleo M, Franco B. Microphthalmia ...
  3. ... intellectual disability and autism spectrum disorder ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Helsmoortel-van der ...
  4. ... of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988 Dec; ...
  5. ... Villemeur T, Ogier de Baulny H, Benoist JF. Multiple congenital anomalies in two boys with mutation in HCFC1 and ...
  6. ... Porter FD. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error ...
  7. ... MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for ...
  8. ... and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the ...
  9. ... Carey JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
  10. ... Carey JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
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