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Results 21 - 30 of 32 for parents Weber syndrome
  1. SETBP1 haploinsufficiency disorder 
    ... eggs or sperm) in an affected individual’s parent or in early embryonic development. These cases occur ... Filges I, Shimojima K, Okamoto N, Rothlisberger B, Weber P, Huber AR, ... distinct from Schinzel-Giedion syndrome. J Med Genet. 2011 Feb;48(2):117- ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  2. Fragile X-Associated Disorders (FXD): A Handbook for Families, Health Care Providers, Counselors, and Educators (National Fragile X Foundation) - PDF  
    Fragile X Syndrome/Start Here ... Fragile X Syndrome ... National Fragile X Foundation ... PDF ... fragile x, handbook, 3rd edition, NFXF
    https://fragilex.org/.../2012/01/Handbook-FXD_3rd_Edition.pdf - External Health Links
  3. Autism (and Fragile X Syndrome) (National Fragile X Foundation)  
    Fragile X Syndrome/Related Issues ... Fragile X Syndrome ... National Fragile X Foundation ... Individuals with FXS are frequently co-diagnosed with autism. Research ...
    https://fragilex.org/fxs/topics/autism - External Health Links
  4. Gitelman syndrome 
    ... the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition ... on PubMed Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, ... Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3: ...
    https://medlineplus.gov/genetics/condition/gitelman-syndrome - Genetics
  5. Coffin-Siris syndrome 
    ... condition is not usually inherited from an affected parent, but occurs from new (de novo) variants in ... Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmuller J, Li Y, ... Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018 Mar 1;102( ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  6. Chromosome 19 
    ... of chromosome 19, one copy inherited from each parent, form one of the pairs. Chromosome 19 spans ... Zucca C, Brambilla D, Molteni M, Giorda R, Weber RG, Zuffardi O. ... microdeletion/microduplication syndrome of 19p13.13. Genet Med. 2010 Aug;12( ...
    https://medlineplus.gov/genetics/chromosome/19 - Genetics
  7. Tetra-amelia syndrome 
    ... the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each ... N, Philip N. Tetra-amelia and lung aplasia syndrome: report of a new family and ... U, Niswander L, Weber JL, Muller U. Homozygous WNT3 mutation causes tetra- ...
    https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome - Genetics
  8. Progressive myoclonic epilepsy type 1 
    ... have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition ... Unverricht-Lundborg syndrome Genetic Testing ... doi: 10.1016/s0378-1119(99)00550-8. Citation on PubMed Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  9. Epilepsy-aphasia spectrum 
    ... affected person inherits the variant from one affected parent. Other cases result from new variants in the ... Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinbock H, ... of epilepsy syndromes with onset in childhood: Position paper by the ...
    https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum - Genetics
  10. Chromosome 9 
    ... of chromosome 9, one copy inherited from each parent, form one of the pairs. Chromosome 9 is ... Radlwimmer B, Lichter P, Schramm J, Becker AJ, Weber RG. Comprehensive ... craniosynostosis, hydrocephalus, macrosomia, and developmental delay. ...
    https://medlineplus.gov/genetics/chromosome/9 - Genetics
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