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Results 1 - 10 of 140 for Multiple congenital anomalies
  1. PIGT gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  2. Microphthalmia with linear skin defects syndrome 
    ... 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 ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  3. ADNP syndrome 
    ... intellectual disability and autism spectrum disorder ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Helsmoortel-van der ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  4. Fryns syndrome 
    ... of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988 Dec; ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  5. HCFC1 gene 
    ... Villemeur T, Ogier de Baulny H, Benoist JF. Multiple congenital anomalies in two boys with mutation in HCFC1 and ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  6. DHCR7 gene 
    ... Porter FD. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error ...
    https://medlineplus.gov/genetics/gene/dhcr7 - Genetics
  7. FG syndrome 
    ... MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  8. Mowat-Wilson syndrome 
    ... and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  9. X-linked chondrodysplasia punctata 2 
    ... Carey JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  10. EBP gene 
    ... Carey JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
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