NORD^® Rare Disease Database

split hand-foot malformation 1 with sensorineural hearing loss

Also known as: SHFM1D, congenital deafness with split hands and feet, deafness, congenital, with split hands and feet, split hand-foot malformation 1 with sensorineural hearing loss, split hand-split foot-deafness syndrome, split-hand/foot malformation 1 with sensorineural hearing loss, split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Also known as: CAPOS, CAPOS syndrome, cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

sudden sensorineural hearing loss

Also known as: acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma, deafness, sudden, sudden deafness, sudden hearing loss, sudden sensorineural hearing loss

progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Also known as: progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome, progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome, progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome

macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Also known as: Alport syndrome with macrothrombocytopenia, Alport syndrome with macrothrombocytopenia, formerly, Brodie Chole griffin syndrome, Brodie Chole gryphon syndrome, Dohle leukocyte inclusions with giant platelets, Epstein syndrome, FTNS, Fechtner syndrome, MHA, MYH-9 related disease, MYH9 related disorders, MYH9 related thrombocytopenia, MYH9-RD, MYH9-related disease, MYH9-related disorder, MYH9-related syndrome, MYH9-related syndromic thrombocytopenia, May-Hegglin anomaly, May-Hegglin thrombocytopenia, SBS, Sebastian platelet syndrome, Sebastian syndrome, bleeding disorder, Platelet-type, 6, giant platelet syndrome with thrombocytopenia, macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, macrothrombocytopenia and progressive sensorineural deafness, macrothrombocytopenia progressive deafness, macrothrombocytopenia with dispersed leukocytic inclusions, macrothrombocytopenia with leukocyte inclusions, macrothrombocytopenia, nephritis, and deafness, macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions, matins

renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

Also known as: RTA, distal, autosomal recessive, RTADR, classical distal RTA, classical distal renal tubular acidosis, distal renal tubular acidosis 3, with or without sensorineural hearing loss, renal tubular acidosis, autosomal recessive with preserved hearing, renal tubular acidosis, autosomal recessive, with preserved hearing, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, renal tubular acidosis, distal, autosomal recessive, renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included, type 1 RTA, type 1 renal tubular acidosis

sensorineural hearing loss-early graying-essential tremor syndrome

renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss

Also known as: AR dRTA with deafness, AR dRTA with hearing loss, RTA with progressive nerve deafness, autosomal recessive distal renal tubular acidosis with deafness, autosomal recessive distal renal tubular acidosis with hearing loss, distal renal tubular acidosis 2 with progressive sensorineural hearing loss, distal renal tubular acidosis co-occurrent with sensorineural deafness, renal tubular acidosis progressive nerve deafness, renal tubular acidosis type 1b, renal tubular acidosis with deafness, renal tubular acidosis with progressive nerve deafness, renal tubular acidosis, autosomal recessive, with progressive nerve deafness, renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, renal tubular acidosis, distal, with progressive nerve deafness

microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Also known as: EHLMRS, epilepsy, hearing loss, and intellectual disability syndrome, epilepsy, hearing loss, and mental retardation syndrome, microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome, neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities

mitochondrial non-syndromic sensorineural hearing loss

Also known as: deafness, isolated, due to mitochondrial transmission, deafness, nonsyndromic sensorineural, mitochondrial, isolated mitochondrial neurosensory deafness, isolated mitochondrial sensorineural deafness, mitochondrial non-syndromic neurosensory deafness, mitochondrial non-syndromic sensorineural deafness

X-linked mixed hearing loss with perilymphatic gusher

Also known as: DFN 3 nonsyndromic hearing loss and deafness, DFN3, DFNX2, Nance deafness, X-linked deafness type 2, X-linked mixed conductive and neurosensory deafness, X-linked mixed conductive and neurosensory hearing loss, X-linked mixed conductive and sensorineural deafness, X-linked mixed conductive and sensorineural hearing loss, X-linked mixed deafness with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher, X-linked stapes gusher syndrome, central hearing loss, conductive deafness with stapes fixation, deafness 3 conductive with stapes fixation, deafness 3, conductive, with stapes fixation, deafness conductive with stapes fixation, deafness mixed with perilymphatic gusher, deafness mixed with perilymphatic gusher, X-linked, deafness, X-linked 2, deafness, X-linked 2, X-linked recessive, deafness, X-linked type 2, deafness, conductive, with stapes fixation, deafness, mixed, with perilymphatic gusher, gusher syndrome, high frequency deafness, high frequency hearing loss, high-frequency hearing loss, perceptive deafness, perceptive hearing loss, perceptive hearing loss or deafness, perilymphatic gusher-deafness syndrome, sensorineural deafness, sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear, sensorineural hearing loss, sensory hearing loss

cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Also known as: CAGSSS, cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Also known as: SHILCA, SHILCA syndrome, spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Also known as: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

dilated cardiomyopathy 1J

Also known as: CMD1J, EYA4 familial dilated cardiomyopathy, autosomal dominant dilated cardiomyopathy with sensorineural hearing loss, cardiomyopathy, dilated, 1J, cardiomyopathy, dilated, type 1J, cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant, dilated cardiomyopathy 1J, dilated cardiomyopathy type 1J, familial dilated cardiomyopathy caused by mutation in EYA4, neurosensory deafness with dilated cardiomyopathy, neurosensory hearing loss with dilated cardiomyopathy, sensorineural deafness with dilated cardiomyopathy, sensorineural hearing loss with dilated cardiomyopathy

autosomal dominant nonsyndromic hearing loss

Also known as: autosomal dominant deafness, autosomal dominant isolated deafness, autosomal dominant isolated neurosensory deafness type DFNA, autosomal dominant isolated neurosensory hearing loss type DFNA, autosomal dominant isolated sensorineural deafness type DFNA, autosomal dominant isolated sensorineural hearing loss type DFNA, autosomal dominant non-syndromic neurosensory deafness type DFNA, autosomal dominant non-syndromic neurosensory hearing loss type DFNA, autosomal dominant non-syndromic sensorineural deafness type DFNA, autosomal dominant non-syndromic sensorineural hearing loss type DFNA, autosomal dominant nonsyndromic deafness, autosomal dominant nonsyndromic genetic deafness, autosomal dominant nonsyndromic hearing impairment, autosomal dominant nonsyndromic hearing loss, autosomal dominant nonsyndromic hearing loss and deafness, deafness, autosomal dominant, nonsyndromic deafness, autosomal dominant, nonsyndromic genetic deafness, autosomal dominant

hearing loss-familial salivary gland insensitivity to aldosterone syndrome

Also known as: Tungland-Bellman syndrome, Tunglang savage Bellman syndrome, hearing loss and familial salivary gland insensitivity to aldosterone, hearing loss insensitivity to aldosterone

non-acquired combined pituitary hormone deficiency with spine abnormalities

Also known as: CPHD3, Deafness, sensorineural with pituitary dwarfism, Pituitary hormone deficiency, combined with rigid cervical spine, Winkelmann-Bethge-Pfeiffer syndrome, deafness, sensorineural, with pituitary dwarfism, non-acquired combined pituitary hormone deficiency with spine abnormalities, non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome, non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome, pituitary hormone deficiency, combined, 3, pituitary hormone deficiency, combined, type 3, pituitary hormone deficiency, combined, with rigid cervical spine

palmoplantar keratoderma-deafness syndrome

Also known as: PPK-deafness syndrome, diffuse palmoplantar keratoderma with deafness (subtype), focal palmoplantar keratoderma with sensorineural deafness (subtype), hereditary palmoplantar keratoderma with deafness (subtype), keratoderma palmoplantar deafness, keratoderma palmoplantar, with deafness, keratoderma, palmoplantar, with deafness, palmoplantar hyperkeratosis-deafness syndrome, palmoplantar hyperkeratosis-hearing loss syndrome, palmoplantar keratoderma and sensorineural deafness, palmoplantar keratoderma-hearing loss syndrome

X-linked nonsyndromic hearing loss

Also known as: X-linked deafness, X-linked isolated neurosensory deafness type DFN, X-linked isolated neurosensory hearing loss type DFN, X-linked isolated sensorineural deafness type DFN, X-linked isolated sensorineural hearing loss type DFN, X-linked non-syndromic neurosensory deafness type DFN, X-linked non-syndromic neurosensory hearing loss type DFN, X-linked non-syndromic sensorineural deafness type DFN, X-linked non-syndromic sensorineural hearing loss type DFN, X-linked nonsyndromic deafness, X-linked nonsyndromic genetic deafness, nonsyndromic deafness, X-linked, nonsyndromic genetic deafness, X-linked

congenital hereditary facial paralysis-variable hearing loss syndrome

Also known as: congenital hereditary facial palsy with variable deafness, congenital hereditary facial palsy with variable hearing loss, congenital hereditary facial paralysis with variable deafness, congenital hereditary facial paralysis-variable deafness syndrome

maternally-inherited cardiomyopathy and hearing loss

Also known as: maternally-inherited cardiomyopathy and deafness, tRNA-LYS-related cardiomyopathy-hearing loss syndrome

high myopia-sensorineural deafness syndrome

Also known as: DFNMYP, deafness and myopia, deafness and myopia syndrome, high myopia-sensorineural deafness syndrome

autosomal recessive nonsyndromic hearing loss 1A

Also known as: DFNB1, DFNB1A, GJB2-related deafness, autosomal recessive deafness 1A, autosomal recessive nonsyndromic deafness 1A, autosomal recessive nonsyndromic deafness type 1A, autosomal recessive nonsyndromic hearing loss 1A, connexin 26 deafness, deafness nonsyndromic, connexin 26 linked, deafness, autosomal recessive 1A, deafness, autosomal recessive 1a, autosomal recessive, digenic dominant, deafness, autosomal recessive type 1A, deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant, deafness, digenic, GJB2/GJB3, deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant, deafness, digenic, GJB2/GJB6