Rare Disease Library

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Björnstad syndrome

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

Brachydactyly-short stature-retinitis pigmentosa syndrome

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

Caudal appendage-deafness syndrome

Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia 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

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Deafness-vitiligo-achalasia syndrome

Hearing loss-vitiligo-achalasia syndrome

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Furukawa-Takagi-Nakao syndrome

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Epidermolysis bullosa simplex with nephropathy · Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome

OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome · OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Perrault syndrome

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

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Posterior column ataxia-retinitis pigmentosa syndrome

Autosomal recessive posterior column ataxia and retinitis pigmentosa · PCARP

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PXE-like syndrome with retinitis pigmentosa

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

Renal caliceal diverticuli-deafness syndrome

Renal caliceal diverticuli-hearing loss syndrome

Retinitis pigmentosa

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

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

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome