Rare Disease Library

Spondyloepiphyseal dysplasia, MacDermot type

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

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

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

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Bartter syndrome type 4

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

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

CAGSSS

Crandall syndrome

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

De Hauwere syndrome

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

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature 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

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

Hereditary sensory neuropathy-deafness-dementia syndrome

HSN1E · HSAN1E

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss 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

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

MGP-related spondyloepiphyseal dysplasia

MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome

MIR140-related spondyloepiphyseal dysplasia

MIR140-related SED · Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses

Multiple epiphyseal dysplasia, Beighton type

Multiple epiphyseal dysplasia-myopia-hearing loss syndrome · Multiple epiphyseal dysplasia-myopia-deafness syndrome

Progressive autosomal recessive ataxia-deafness syndrome

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

Progressive pseudorheumatoid dysplasia

PPD · Progressive pseudorheumatoid arthropathy of childhood

Pseudoachondroplasia

Pseudoachondroplastic dysplasia · Pseudoachondroplastic spondyloepiphyseal dysplasia

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

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural deafness-early graying-essential tremor syndrome

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

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

Spondylo-megaepiphyseal-metaphyseal dysplasia

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

SEMDAD

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

SED and SEMD

Spondyloepiphyseal dysplasia congenita

Congenital spondyloepiphyseal dysplasia · SEDC

Spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia tarda, Kohn type

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

SED-BDS · Tattoo dysplasia

Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Spondyloepiphyseal dysplasia, Nishimura type

Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome

SHILCA syndrome

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Spondyloepiphyseal dysplasia, Kimberley type

Spondyloepiphyseal dysplasia, Omani type

Spondyloepiphyseal dysplasia, Reardon type

Spondyloepiphyseal dysplasia, Stanescu type

SED, Stanescu type

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

SMD-CRD

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome