Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Traumatic deafness, non-occupational |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Toxic deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Hearing for voice impaired |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Difficulty hearing speech in large group setting (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Bone conduction deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Auditory neuropathy spectrum disorder (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Congenital deafness |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
|
Congenital hearing disorder |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Acoustic reflex finding (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Deafness of right ear |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Deafness of left ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Hearing loss of right ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Hearing loss of left ear (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Acquired sensorineural hearing loss (disorder) |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
|
Acquired deaf mutism (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Congenital deaf mutism |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Congenital prelingual deafness |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
|
Echo in ear (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Bilateral tinnitus |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Congenital sensorineural hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Profound sensorineural hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Deafness-dystonia-optic neuronopathy syndrome (disorder) |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
3 |
Ear pit syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Jervell and Lange-Nielsen syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Congenital anomaly of ear with impairment of hearing |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Mild to moderate hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Rubella deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Severe hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Perception of hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
2 |
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
Sudden sensorineural hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
7 |
Epithelio-exfoliative colitis and deafness syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
|
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Abnormal finding on auditory function study (finding) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
1 |
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
4 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
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). |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
2 |
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Acquired hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Inherited distal renal tubular acidosis combined with sensorineural deafness. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
5 |
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
4 |
Ichthyose-Hypotrichose-Syndrom |
Interprets |
False |
Hearing |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
7 |
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Hypospadias, hypertelorism, coloboma, deafness syndrome |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
|
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). |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
6 |
Sudden idiopathic hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
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. |
Interprets |
False |
Hearing |
Inferred relationship |
Some |
3 |
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. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Mild acquired hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Moderate acquired hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Severe acquired hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Profound acquired hearing loss (disorder) |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Congenital conductive hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
Congenital mixed conductive and sensorineural hearing loss |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
2 |
Retinitis pigmentosa-deafness syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Retinitis pigmentosa-deafness-ataxia syndrome |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Usher syndrome type 1 |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Usher syndrome type 2 |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
3 |
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease. |
Interprets |
True |
Hearing |
Inferred relationship |
Some |
4 |
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 |