Rare Disease Library

Ataxia-deafness-intellectual disability syndrome

Reardon-Baraitser syndrome · Ataxia-hearing loss-intellectual disability syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Ataxia-telangiectasia

Louis-Bar syndrome

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Banki syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Barber-Say syndrome

Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome

Bardet-Biedl syndrome

BBS

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bartter syndrome

Renal tubular normotensive hypokalemic alkalosis with hypercalciuria · Salt-losing tubular disorder, Henle's loop type

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Biliary atresia with splenic malformation syndrome

BASM syndrome

Birk-Barel syndrome

Intellectual disability-hypotonia-facial dysmorphism syndrome · Birk-Barel Intellectual Disability-Dimorphism syndrome

Cataract-deafness-hypogonadism syndrome

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

Clark-Baraitser syndrome

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deafness-epiphyseal dysplasia-short stature syndrome

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

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

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

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Rett syndrome

Reye syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

Thoracolaryngopelvic dysplasia

Barnes syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Vascular Ehlers-Danlos syndrome

EDS IV · Ehlers-Danlos syndrome type 4