1. Uvea adenopodous Beatificate autosomal debell

2. Ambry Autosomal Dominant and X-Linked criteria (3/2017) Ambry Autosomal Dominant and X-Linked criteria (9/4/14) Ambry Autosomal Dominant and X-Linked criteria (2/2020) Ambry Autosomal Dominant and X-Linked criteria (3/2017) Ambry exome assertion method (8-5-2015) Ambry Autosomal Dominant and X-Linked criteria (10/2015) Ambry exome assertion method

3. (1987) as other examples of autosomal recessive inheritance of Aqueductal stenosis.

4. Certain autosomal translocations in the heterozygous state can be fully viable.

5. Broodiness is a polygenic trait controlled by a small number of autosomal genes

6. Diseases associated with Ankh include Craniometaphyseal Dysplasia, Autosomal Dominant and Chondrocalcinosis 2.

7. Autosomal recessive Agammaglobulinemia (Swiss type) X-linked Agammaglobulinemia [Bruton] (with growth hormone deficiency)

8. Keratosis palmoplantaris punctata (KPPP) is a rare genodermatosis inherited in autosomal dominant fashion.

9. Digital Clubbing may also occur in isolation (e.g., familial Clubbing, as an autosomal-dominant trait)

10. Juvenile Amaurotic idiocy is an autosomal recessive disease with onset around 6 years of age

11. Background: The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome with ectodermal dysplasia.

12. Congenital methylmalonic aciduria (MMA) is a metabolic disorder inherited by an autosomal recessive trait.

13. Autosomes, or autosomal DNA, make up 22 pairs of chromosomes in your body

14. By comparing biopsies of autosomal dominant, autosomal recessive myotonia congenita, paramyotonia congenita, paramyotonia congenita, adynamia episodica hereditaria with myotonia, and myotonic dystrophy by light and electron microscopy, various alterations were observed, most of which however were non-specific.

15. Hyperkeratosis and hyperhidrosis of the palms and soles, acral bullae, follicular keratosis, and oral leukokeratosis may also occur. Autosomal dominant inheritance is the rule, although cases transmitted in an autosomal recessive form have also been reported.

16. Allgrove’s syndrome is a rare, recessive autosomal condition, associated with alacrima, achalasia and adrenal insufficiency.

17. Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before.

18. Conclusions: Adsd is an autosomal dominant basal ganglia disease mapping to chromosome 5q13.3-q14.1.

19. Hereditary neurocutaneous Angiomata (403775003); Hereditary neurocutaneous vascular malformations (403775003) Modes of inheritance: Autosomal dominant inheritance

20. Acrodermatitis enteropathica occurs in two forms: an autosomal recessive inherited form and an acquired form.

21. Bartter and Gitelman syndromes are both autosomal recessive conditions characterized by renal salt wasting, hypokalemia, and metabolic alkalosis.

22. Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene and is inherited in an autosomal recessive manner

23. Although Achondroplasia is inherited in an autosomal dominant manner, 80% of affected children have a de novo mutation

24. The condition, which is inherited as an autosomal dominant characteristic, has features of thrombocytopenia and a bleeding diathesis.

25. Bartter syndrome and Gitelman syndrome (also called tubular hypomagnesemia-hypokalemia with hypocalciuria) are autosomal recessive disorders with a …

26. Wilson's disease is an autosomal recessive condition due to a mutation in the Wilson disease protein (ATP7B) gene.

27. Mutations in the ACTN4 gene, coding for alpha-Actinine 4, have been reported in autosomal dominant forms

28. AnAlbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin

29. Just as in the autosomal recessive disorder, acrodermatitis enteropathica, the lesions in our patient were caused by zinc deficiency.

30. Asphyxiating thoracic dysplasia (Jeune syndrome) is an autosomal recessive dwarfism with a small thorax and short ribs with bulbous ends (Fig

31. Autosomal dominant Muir-Torre syndrome should be considered in patients who develop sebaceous gland carcinoma of the ocular adnexa.

32. Studies of autosomal DNA, which look at the entire DNA mixture, have become increasingly important as the technology develops.

33. Mendelian inheritance of codominant autosomal alleles was established for IDH-2, LDH-1, LDH-2, ME-2, PGM-1, and PGI-2.

34. The rare autosomal-recessive Berardinelli-Seip congenital lipodystrophy syndrome (BSCL) is characterized by general lipodystrophy, acromegalic appearance, hypertriglyceridemia, insulin resistance and hepatomegaly.

35. A rare congenital autosomal dominant syndrome of thickened bilateral lop Auricles, conductive hearing loss, ossicular anomalies, and micrognathia is reported

36. Acpt biallelic mutations caused non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta in individuals from six unrelated Turkish families

37. Achondroplasia is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their

38. Bartter syndrome is an autosomal recessive disorder of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure

39. 9 Bovine leukocyte adhesion deficiency ( BLAD ) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.

40. People inherit one Allele for each autosomal gene from each parent, and we tend to lump the Alleles into categories.

41. Bartter syndrome and Gitelman syndrome (also called tubular hypomagnesemia-hypokalemia with hypocalciuria) are autosomal recessive disorders with characteristic sets of metabolic abnormalities [ …

42. They are frequently associated with acrocyanosis and chilblains. This condition is probably transmitted as an autosomal dominant trait with highly variable penetrance.

43. It would seem that the platelet abnormality merely accompanys the increase in inhibitors which is passed on by recessive autosomal transmission.

44. Diamond-Blackfan anemia is an autosomal recessive cause of pure red cell Aplasia that is often associated with other abnormalities; the anemia becomes

45. Tubules forming complexes with filaments were seen in autosomal dominant myotonia congenita (type IIa), and in adynamia episodica hereditaria (type IIb, “giant tubules”).

46. Given that SLOS is an autosomal recessive disorder, mutations in DHCR7 on both copies of chromosome 11 are necessary to have the disorder.

47. Among the stationary cone disorders autosomal recessive achromatopsia occurs most frequently and begins within the first months of life with nystagmus and photophobia.

48. However, analyses of autosomal breakpoints in several translocation strains allowed chromosomes from the two tissues to be aligned despite their difference in banding pattern.

49. Methods: The authors characterized a large family with autosomal dominant basal ganglia disease (Adsd) clinically and by MRI, MR spectroscopy (MRS), and SPECT

50. Asphyxiating thoracic dystrophy, or Jeune syndrome (JS), is a rare autosomal recessive ciliopathy characterized by multiple skeleto-muscular abnormalities, multi-organ involvement and …

51. Bartter syndrome, originally described by Bartter and colleagues in 1962, [] represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia

52. Patients from consanguineous families present an autosomal-recessive variation of HIES characterized by the absence of skeletal and dental abnormalities but severe cerebral involvement.

53. In dogs, cerebellar abiotrophy is also usually an autosomal recessive gene, but in a few breeds, such as the English Pointer, the gene is sex-linked.

54. The triple A syndrome is a complex and multisystemic autosomal recessive disease with the 3 main symptoms of adrenal insufficiency, alacrima, and achalasia accompanied by neurological impairment.

55. Craniofacial dysostosis an autosomal dominant condition marked by a pointed or conical skull, protruding wide-set eyes, strabismus, parrot-beaked nose, and hypoplastic maxilla with relative mandibular prognathism

56. Deficiency of the IL-1 receptor Antagonist (DIRA) is an autosomal recessive disorder due to mutations in the IL-1 receptor Antagonist gene (IL-1RN) (see Table 41.5)

57. What is Batten Disease? Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body

58. The data of 295 (EsD) and 153 (GLO) mother/child combinations were in full accordance with the genetic model of two codominant alleles at an autosomal locus.

59. Jeune Asphyxiating thoracic dystrophy (ATD) is an autosomal-recessive chondrodysplasia characterized by short ribs and a narrow thorax, short long bones, inconstant polydactyly, and trident acetabular roof

60. Alopecia universalis congenita is a severe autosomal recessive form of Alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998)

61. Barros-Nunes and Rivas (1993) suggested that hydrocephalus due to congenital stenosis of the Aqueduct of Sylvius in the Mexican kindred they reported was inherited in an autosomal recessive manner

62. Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development.

63. Bustamante, a professor of genetics at Stanford University in Stanford, California, U.S.A., has gathered additional Amerindian samples to try to find out which specific tribes contributed to a person's autosomal DNA.

64. Autosomes, which are all of the other chromosomes (chromosome pairs 1 through 22) or nonsex chromosomes Autosomal inheritance of a gene means that the gene is located on one of the Autosomes

65. Bartter syndrome, originally described by Bartter and colleagues in 1962, represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure

66. Unique is a small charity supporting, informing and networking with families living with a Rare Chromosome Disorder or some Autosomal Dominant Single Gene Disorders associated with learning disability and developmental delay, among other symptoms

67. Bartter syndrome, originally described by Bartter and colleagues in 1962, represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure

68. Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria.

69. Propionic acidemia (PA) is a rare autosomal recessive disorder resulting from deficiency of the biotin-dependent enzyme propionyl-CoA carboxylase, which is necessary for the catabolism of branched chain amino acids and odd-chain fatty acids.

70. Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria.

71. Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria.

72. The level of genetic structure detected with autosomal markers in Colombian Amerinds is highly consistent with the one estimated for South America based on a large number of classical markers and populations (∼6%) (Cavalli-Sforza et al

73. Bartter syndrome is a heterozygous group of autosomal recessive disorders of electrolyte homeostasis characterized by hypokalemic alkalosis, renal salt wasting that may lead to hypotension, hyper-reninemic hyperaldosteronism, increased urinary prostaglandin excretion, and hypercalciuria with nephrocalcinosis.204,205

74. D-Bifunctional protein deficiency (DBPD) is an autosomal recessive disorder that is a member of a family of disorders that result from defects in the biogenesis and/or functioning of the peroxisomes and are referred to …

75. Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid Cystine in the urine, leading to the formation of Cystine stones in the kidneys, ureters, and bladder.It is a type of aminoaciduria

76. Primary Ciliary dyskinesia (PCD) is usually an autosomal recessive genetic condition in which the microscopic organelles (cilia) in the respiratory system have defective function. Ciliary dysfunction prevents the clearance of mucous from the lungs, paranasal sinuses and middle ears.

77. AMED syndrome (Ameds) is an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome (MDS) in childhood, and poor overall growth with short stature (summary by Oka et al., 2020).

78. Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment, cerebellar Ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray hypersensitivity, ocular and cutaneous telangiectasia (see image below), and a predisposition to malignancy.

79. Adsd: Adductor Spasmodic Dysphonia: Adsd: Advanced Distributed Systems Design: Adsd: Air Defense Systems Directorate (US DoD) Adsd: Autosomal Dominant Striatal Degeneration: Adsd: Active Duty Start Date: Adsd: Australian Defence Signals Directorate (Department of Defence Intelligence and Security; Australia) Adsd: Active Directory Software

80. Based on evidence from Autosomal Dominant NFLE, a genetic disorder with mutations in nicotinic acetylcholine receptors(nAchR), we hypothesise that arousal parasomnias and NFLE both, have abnormal arousal mechanisms in the dorsal cholinergic arousal branch triggering peculiar motor patterns in the medial frontal lobe regions.