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Results 1 - 10 of 28 for FG syndrome 4
  1. FG syndrome 
    ... Testing Registry: FG syndrome 2 Genetic Testing Registry: FG syndrome 4 Genetic Testing Registry: FG syndrome 5 Genetic Testing ... OPITZ-KAVEGGIA SYNDROME; OKS FG SYNDROME 3; FGS3 FG SYNDROME 4; FGS4 FG SYNDROME 2; FGS2 FG SYNDROME 5; ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  2. CASK-related intellectual disability 
    ... Najm type National Organization for Rare Disorders (NORD) FG SYNDROME 4; FGS4 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  3. MED12 gene 
    ... recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007 Apr;39(4):451-3. ... A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011 Feb;79(2):183-8. ...
    https://medlineplus.gov/genetics/gene/med12 - Genetics
  4. Sheldon-Hall syndrome 
    ... PubMed Central Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Citation on PubMed or Free article on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/condition/sheldon-hall-syndrome - Genetics
  5. MYH3 gene 
    ... on PubMed Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Citation on PubMed or Free article on PubMed Central Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  6. FGFR3 gene 
    ... in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Citation on PubMed Toydemir RM, Brassington AE, Bayrak-Toydemir P, Krakowiak PA, Jorde LB, Whitby FG, Longo N, Viskochil DH, Carey JC, Bamshad MJ. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  7. Hyaline fibromatosis syndrome 
    ... novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and ... van der Goot FG. Systemic hyalinosis mutations in the CMG2 ectodomain leading ...
    https://medlineplus.gov/.../condition/hyaline-fibromatosis-syndrome - Genetics
  8. Autism Spectrum Disorder (ASD) Screening: MedlinePlus Medical Test 
    ... Spectrum Disorder Screening; [cited 2025 April 23]; [about 4 screens]. Available from: https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.Learning-About-Autism-Spectrum-Disorder-Screening.aci3218 Lehnhardt FG, Gawronski A, Pfeiffer K, Kockler H, Schilbach L, Vogeley K. The investigation and differential diagnosis of Asperger syndrome in adults. Dtsch Arztebl Int. 2013 Nov 8 [ ...
    https://medlineplus.gov/.../autism-spectrum-disorder-asd-screening - Medical Tests
  9. NBEAL2 gene 
    ... Gahl WA. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of ... H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, ...
    https://medlineplus.gov/genetics/gene/nbeal2 - Genetics
  10. Kallmann syndrome 
    ... 456-66. doi: 10.3803/EnM.2015.30.4.456. Citation on PubMed or Free article on PubMed ... hypogonadal syndromes. Front Endocrinol (Lausanne). 2014 Jul 9;5:109. ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
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