Autosomal-Recessive Robinow Syndrome
dominant and autosomal recessive forms exist.[radiopaedia.org]
In autosomal dominant form of the symptoms are mild, some signs nonexistent. Autosomal recessive inheritance is more pronounced.[health-and-beaty.blogspot.com]
recessive Robinow syndrome has autosomal dominant inheritance; in other cases, the disorder may have an autosomal recessive mode of inheritance.[checkorphan.org]
Hyperuricemia
recessive and autosomal dominant forms of hereditary chronic tubulointerstitial disease [ Hildebrandt et al 1992 ].[ncbi.nlm.nih.gov]
Nephronophthisis is now used to refer to a group of conditions with autosomal recessive inheritance that present in childhood with chronic kidney failure.[ncbi.nlm.nih.gov]
[…] associated kidney disease) [ Zivná et al 2009 ] Note: (1) The term "nephronophthisis/medullary cystic kidney disease (NPH/MCKD) complex" was used in the past to refer to both autosomal[ncbi.nlm.nih.gov]
Robinow Syndrome
dominant and autosomal recessive forms exist.[radiopaedia.org]
There are two forms of this condition, an autosomal recessive and an autosomal dominant form.[diseaseinfosearch.org]
In autosomal dominant form of the symptoms are mild, some signs nonexistent. Autosomal recessive inheritance is more pronounced.[health-and-beaty.blogspot.com]
Meniere's Disease
In such cases, the disorder appears to have autosomal dominant or autosomal recessive inheritance.[rarediseases.org]
However, rare familial forms of Ménière’s Disease have been reported in the medical literature.[rarediseases.org]
Cutis Laxa
One autosomal dominant and two autosomal recessive forms have been described, but acquired forms also occur. synonyms Cutis Laxa, Dermatochalasis, Limp Skin UMLS Chalazoderma[dermis.net]
Mutations in the gene encoding fibulin-5 (FBLN5) can cause either autosomal dominant or a more severe autosomal recessive form of cutis laxa.[medicinenet.com]
There are 4 hereditary forms: Autosomal dominant X-linked recessive 2 autosomal recessive The autosomal recessive forms tend to be more common, and one of them causes potentially[merckmanuals.com]
Thrombocytopenia
Most cases of OCA are autosomal recessive; autosomal dominant inheritance is rare.[merck.com]
There are 4 main genetic forms: Type I is caused by absent (OCA1A; 40% of all OCA) or reduced (OCA1B) tyrosinase activity; tyrosinase catalyzes several steps in melanin synthesis[merck.com]
Osteoporosis
The milder forms, especially adult and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner depending on the effect that the ALPL[web.archive.org]
Perinatal and most infantile cases of hypophosphatasia are inherited in an autosomal recessive manner.[web.archive.org]
Talipes Cavus
Clinical and radiographic examinations of the feet of members of three kindreds of hereditary spastic paraplegia, suggested that the autosomal dominant form manifests a significantly[hspjourney.blogspot.com]
[…] higher incidence and degree of heel varus deformity than the autosomal recessive form of the disease.[hspjourney.blogspot.com]
Hyperkalemia
For the first 3 genes, inheritance is autosomal dominant. For KLHL3, inheritance is mostly dominant. A few cases with autosomal recessive disease were described.[ncbi.nlm.nih.gov]
Patients with this disorder may present in the neonatal period with renal salt wasting and hyperkalemic acidosis similar to those seen in the autosomal recessive form.[emedicine.medscape.com]
In the recessive form, the phenotype of heterozygotes is not well described.[ncbi.nlm.nih.gov]
Diabetes Mellitus
Genetic counseling The pattern of inheritance is autosomal dominant or autosomal recessive depending on the gene.[orpha.net]
Antenatal diagnosis Prenatal diagnosis for at-risk pregnancies is available for most forms of PNDM provided that the disease-causing mutation has been identified in the family[orpha.net]