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A. Abdallat–Davis–Farrage syndrome; Abetalipoproteinemia; Absent tibia-polydactyly-arachnoid cyst syndrome; Acanthosis nigricans-muscle cramps-acral enlargement syndrome
Autosomal recessive pattern, showing how two unaffected carriers can have a child with the disease. Some genetic disorders are caused by having two "bad" copies of a recessive allele. When the gene is located on an autosome (as opposed to a sex chromosome), it is possible for both men and women to be carriers .
Chr 17. Mulibrey nanism is caused by mutations of the TRIM37 gene, [2] located at human chromosome 17q22-23. [9] The disorder is inherited in an autosomal recessive manner. [7] This means the defective gene responsible for the disorder is located on an autosome (chromosome 17 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born ...
Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, [1] is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR. [2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism. [3]
Thyroid dyshormonogenesis is inherited in an autosomal recessive manner: Specialty: Endocrinology ...
3C syndrome is an autosomal recessive disease, caused by a mutation on the long arm of chromosome 8 at 8q24.13, the locus for KIAA0196, [4] the gene for the protein strumpellin. Strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic paraplegia .
This condition is inherited in an autosomal recessive manner Griscelli syndrome type 2 (also known as " partial albinism with immunodeficiency ") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia , and thrombocytopenia .
Alwadei syndrome or autosomal recessive mental retardation-61 (MRT61) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and variable abnormal facial features.