| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Alport syndrome X-linked (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Alport syndrome autosomal dominant (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
9 |
| A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Weissenbacher-Zweymuller syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Robinson nail dystrophy-deafness syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| albinisme oculaire avec surdité neurosensorielle congénitale |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Hutchinson's triad |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital deaf mutism |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital prelingual deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Congenital sensorineural hearing loss (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Occupational deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Usher syndrome type 2 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Pendred's syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Transient ischaemic deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Retinitis pigmentosa-deafness syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Usher syndrome type 1 |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Retinitis pigmentosa-deafness-ataxia syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Black locks, oculocutaneous albinism, AND deafness of the sensorineural type |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| Hearing loss associated with syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Hystrix ichthyosis with deafness |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic intellectual disability characterized by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
7 |
| Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| This rare neurologic disease is a slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare mitochondrial disease that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
7 |
| Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Wildervanck syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Auditory synaptopathy (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Hereditary hearing loss |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Melnick-Fraser syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Renal tubular acidosis with progressive nerve deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Senter syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterised by neonatal hypoglycaemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Familial amyloid nephropathy with urticaria AND deafness |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Albinism-deafness syndrome of Tietz (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Craniofacial deafness hand syndrome (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
3 |
| Emberger syndrome |
Finding site |
False |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Progressive bulbar palsy with sensorineural deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
6 |
| Maternally inherited diabetes and deafness (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
| Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| Normal auditory tuning fork test (finding) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
5 |
| A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
1 |
| Jervell and Lange-Nielsen syndrome |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
2 |
| Bartter syndrome type 4a (disorder) |
Finding site |
True |
Structure of auditory system (body structure) |
Inferred relationship |
Some |
4 |
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