Rare Disease Library

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

ABCD syndrome

Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Alopecia-hypogonadism-extrapyramidal syndrome

Devriendt-Legius-Fryns syndrome

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

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

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Salti-Salem syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

Hypospadias-hypertelorism-coloboma and deafness syndrome

Hypospadias-hypertelorism-coloboma and hearing loss syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Johnson neuroectodermal syndrome

Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2 with ocular albinism · Ocular albinism with congenital sensorineural hearing loss

Ocular albinism with late-onset sensorineural deafness

Ocular albinism with late-onset sensorineural hearing loss

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Al Awadi-Farag-Teebi syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome · Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant isolated neurosensory deafness type DFNA · Autosomal dominant isolated neurosensory hearing loss type DFNA

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB

Rare mitochondrial non-syndromic sensorineural deafness

Isolated mitochondrial neurosensory deafness · Isolated mitochondrial sensorineural deafness

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked isolated neurosensory deafness type DFN · X-linked isolated neurosensory hearing loss type DFN

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

Edwards-Sethi syndrome · Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

Sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural deafness-early graying-essential tremor syndrome

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome

Spondyloepiphyseal dysplasia, MacDermot type

Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome · Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Syndromic sensorineural hearing loss due to COXPD · Syndromic sensorineural deafness due to COXPD