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Results 1 - 10 of 18 for osteoporosis autosomal recessive 7
  1. Severe congenital neutropenia 
    ... CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE; SCN7 PubMed Berliner N. Lessons from congenital neutropenia: ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  2. Osteoporosis-pseudoglioma syndrome 
    ... eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. LRP5 Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics
  3. Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 
    ... development. J Pediatr. 2004 Feb;144(2):274-7. doi: 10.1016/j.jpeds.2003.09.052. ... for autosomal recessive inheritance and literature review. Am J Med Genet ...
    https://medlineplus.gov/...ypoplasia-congenita-and-genital-anomalies - Genetics
  4. Familial exudative vitreoretinopathy 
    ... prematurity. Clin Exp Ophthalmol. 2006 Sep-Oct;34(7):682-8. doi: 10.1111/j.1442-9071.2006.01314.x. Citation on PubMed Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in ...
    https://medlineplus.gov/.../familial-exudative-vitreoretinopathy - Genetics
  5. Rothmund-Thomson syndrome 
    ... extra or missing genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  6. Dyskeratosis congenita 
    ... can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one copy of the ... each cell is sufficient to cause the disorder. Autosomal recessive means both copies of the gene in each ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  7. Cerebrotendinous xanthomatosis 
    ... xanthomatosis. CYP27A1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  8. Mucolipidosis III alpha/beta 
    ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  9. Microvillus inclusion disease 
    ... Gene: STX3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/microvillus-inclusion-disease - Genetics
  10. Glycogen storage disease type I 
    ... G6PC SLC37A4 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
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