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2,073 Possible Causes for Autosomal Recessive, Congenital Deafness

  • Congenital Deafness

    Abstract PURPOSE: The goals of our study were to develop a noninvasive prenatal test for autosomal recessive monogenic conditions and to prove its overall feasibility and[ncbi.nlm.nih.gov] Congenital deafness is either genetically caused or acquired in utero through maternal lifestyle and/or infection.[symptoma.com] The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.[ncbi.nlm.nih.gov]

  • Bjornstad Syndrome

    Bjornstad syndrome is a rare autosomal recessive genetic disorder characterized by brittle and fragile short hair (known as pili torti) and hearing loss that appear in the[symptoma.com] Published on 06-Jul-2016 View 221 Download 5 Transcript BRIEF REPORTSPili Torti with Congenital Deafness(Bjornstad Syndrome): A Case ReportF. Loche, M.D.,* P.[documents.tips] Wikipedia : 77 Björnstad syndrome is an autosomal recessive congenital condition involving pili torti and nerve... more...[malacards.org]

  • Wolfram Syndrome

    Nonetheless, familial studies suggested an autosomal recessive mode of transmission, and recent data demonstrated linkage with markers on the short arm of human chromosome[ncbi.nlm.nih.gov] A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.[ncbi.nlm.nih.gov] The Wolfram syndrome (WS) is an autosomal recessive disorder beginning in childhood that consists of four clinical features: diabetes insipidus, diabetes mellitus, optic atrophy[ncbi.nlm.nih.gov]

  • Osteogenesis Imperfecta

    recessive OI.[ncbi.nlm.nih.gov] NOS High frequency deafness Low frequency deafness congenital H90.5 ICD-10-CM Diagnosis Code H90.5 Unspecified sensorineural hearing loss 2016 2017 2018 2019 Billable/Specific[icd10data.com] Deafness (non-syndromic) Congenital loss of hearing; -prelingual, non-syndromic deafness Familial hypercholesterolemia Tendon xanthomas; elevated LDL cholesterol; premature[en.wikipedia.org]

  • Mucopolysaccharidosis

    Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder.[ncbi.nlm.nih.gov] Mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme a-N-acetylglucosaminidase.[ncbi.nlm.nih.gov] Abstract Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1H

    Autosomal Recessive Genetic Disorders Recently Answered 1 Answer A Lipoid proteinosis (LP) has a stable or slowly progressive course.[sharecare.com] There may be other abnormalities such as congenital glaucoma and retinal degeneration. Audiometry often reveals the existence of deafness.[medcaretips.com] MPS1H is an autosomal recessive disorder that is passed from parents to offsprings.[symptoma.com]

  • Mucopolysaccharidosis 1

    It is inherited in an autosomal recessive pattern.[doctor.am] […] epilepsy Congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy, Fukuyama type Congenital myasthenic syndromes with glycosylation defect Congenital[se-atlas.de] MPS I is inherited by an autosomal recessive gene that they receive from each parent.[medicinenet.com]

  • Multiple Carboxylase Deficiency

    Pedigrees in each instance are consistent with autosomal recessive inheritance.[ncbi.nlm.nih.gov] The biotin-responsive, multiple carboxylase deficiencies are autosomal recessively inherited disorders of metabolism in which biotin-dependent carboxylases show diminished[ncbi.nlm.nih.gov] Our findings indicate that the primary biochemical defect in late-onset multiple carboxylase deficiency is in biotinidase activity which is inherited as an autosomal recessive[ncbi.nlm.nih.gov]

  • Leigh's Disease

    Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected).[rarediseases.info.nih.gov] Genetics The inheritance pattern may be either autosomal recessive or X-linked. Markers CSF lactate may be elevated.[radiopaedia.org] Both autosomal recessive and X-linked inheritance patterns can be observed in these patients, but its actual cause is still unknown.[symptoma.com]

  • Mandibulofacial Dysostosis

    Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive[ncbi.nlm.nih.gov] , cleft palate, choanal and aural atresia, congenital heart malformation, renal malformations and oesophageal atresia.[exeterlaboratory.com] As chromosome analysis revealed normal male karyotypes, we consider this to be a distinct heritable syndrome that may be either autosomal recessive or X-chromosomal recessive[ncbi.nlm.nih.gov]

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