| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Postlingual non-syndromic genetic deafness |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
2 |
| Prelingual non-syndromic genetic deafness (disorder) |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
2 |
| Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Total visual and total hearing impairment (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Alstrom syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| Birth trauma deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Autoimmune sensorineural hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Postoperative profound sensorineural hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Metabolic presbycusis |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Mechanical presbycusis |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Acquired sensorineural hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Ototoxicity - deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Presbycusis |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Postnatal acquired sensorineural hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Drug ototoxicity - deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Alport syndrome autosomal recessive (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Alport syndrome X-linked (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Alport syndrome autosomal dominant (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| 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. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
1 |
| 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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
| A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone 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. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Robinson nail dystrophy-deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Hearing loss of left ear caused by noise |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Bilateral hearing loss of ears caused by noise |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Hearing loss of right ear caused by noise (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| High frequency sensorineural hearing loss of bilateral ears (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Objective tinnitus of bilateral ears (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Objective tinnitus of right ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Objective tinnitus of left ear (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Subjective tinnitus of right ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Conductive hearing loss of bilateral middle ears (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Subjective tinnitus of left ear (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Bilateral subjective tinnitus of ears |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| 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, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| A rare genetic mitochondrial myopathy disorder with characteristics of 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. Can be caused by mutations in the GFER gene. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Bilateral hyperacusis of ears |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Hyperacusis of right ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Hyperacusis of left ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Ocular albinism with congenital sensorineural deafness |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
4 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
| Hutchinson's triad |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare genetic dysostosis syndrome with characteristics of 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. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Congenital malformation of left ear with impairment of hearing |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| A very rare syndromic genetic deafness with characteristics of mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Traumatic deafness, occupational (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Occupational deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| A rare syndromic developmental defect during embryogenesis with characteristics of urinary tract and kidney anomalies such as renal pelvicaliceal attenuation with multiple tiny caliceal diverticula, associated with sensorineural hearing loss. There have been no further descriptions in the literature since 1981. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Congenital deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| A rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Pendred's syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Transient ischemic deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminaemia and oedema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare syndromic genetic deafness with characteristics of a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family. There is evidence the disease is caused by heterozygous mutation in the MYH14 gene on chromosome 19q13. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| Congenital prelingual deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| Temporary auditory threshold shift (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Hearing loss associated with syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| Ichthyosis hystrix med døvhed |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
4 |
| Noise-induced permanent threshold shift |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Dissociative deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
| The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
| Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). |
Interprets |
True |
Hearing |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| A rare form of syndromic genetic deafness characterised by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behaviour. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Multiple epiphyseal dysplasia Beighton type (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. |
Interprets |
True |
Hearing |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| 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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| 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. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
| 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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
| CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
7 |
| 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. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
4 |
| 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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
| 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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
FHIR