Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Baker-Gordon Syndrome | SYT1 | BAGOS | 618218 | autosomal dominant |
| Baller-Gerold Syndrome | RECQL4 | craniosynostosis with radial defects, craniosynostosis-radial aplasia syndrome | 218600 | autosomal recessive |
| Baraitser-Winter Syndrome 1 | ACTB | BRWS1 | 243310 | autosomal dominant |
| Baraitser-Winter Syndrome 2 | ACTG1 | BRWS2 | 614583 | autosomal dominant? |
| Barber-Say Syndrome | TWIST2 | hypertrichosis atrophic skin ectropion and macrostomia syndrome | 209885 | autosomal dominant |
| Bardet-Biedl Syndromes | multiple | BBS | 209900 | autosomal recessive |
| Basal Cell Nevus Syndrome | PTCH1 | Gorlin syndrome, BCNS, Gorlin-Goltz syndrome, NBCCS, nevoid basal cell carcinoma syndrome | 109400 | autosomal dominant |
| Basel-Vanagaite-Smirin-Yosef Syndrome | MED25 | BVSYS | 616449 | autosomal recessive |
| Beare-Stevenson Syndrome | FGFR2 | cutis gyrata syndrome of Beare and Stevenson | 123790 | autosomal dominant? |
| Behcet-Like Familial Autoinflammatory Syndrome | TNFAIP3 | AISBL, Behcet-like syndrome | 616744 | autosomal dominant |
| Behr Early Onset Optic Atrophy Syndromes | OPA3 | Behr syndrome, Behr infantile hereditary optic atrophy, optic atrophy plus syndrome, Costeff syndrome, OPA3 | 210000, 258501 | autosomal recessive |
| Behr Syndrome | OPA1 | Infantile Hereditary Optic Atrophy with Neurologic Abnormalities, BEHRS | 210000 | autosomal recessive |
| Biemond Syndrome II | ? | Biemond syndrome II | 210350 | autosomal dominant? |
| Bietti Crystalline Corneoretinal Dystrophy | CYP4V2 | Bietti tapetoretinal degeneration with marginal corneal dystrophy, BCD | 210370 | autosomal recessive |
| Birk-Landau-Perez Syndrome | SLC30A9 | BILAPES | 617595 | autosomal recessive |
| Blatt Distichiasis | 126300 | autosomal dominant | ||
| Blepharocheilodontic Syndrome 1 | CDH1 | BCDS, Elschning syndrome, BCD syndrome | 119580 | autosomal dominant |
| Blepharocheilodontic Syndrome 2 | CTNND1 | BCDS2 | 617681 | autosomal dominant |
| Blepharoptosis, Myopia, Ectopia Lentis | ? | 110150 | autosomal dominant | |
| Blue Cone Monochromacy | OPN1LW | CBBM, blue cone monochromatism, BCM, cone dystrophy 5' | 303700 | X-linked recessive |
| Blue Diaper Syndrome | ? | familial hypercalcemia with nephrocalcinosis and indicanuria, Drummond syndrome | 211000 | autosomal recessive? |
| Bornholm Eye Disease | Xq28 locus | BED, X-linked myopia, high myopia with nonprogressive cone dysfunction | 300843 | X-linked recessive |
| Bosma Arhinia Microphthalmia Syndrome | SMCHD1 | BAMS, arihina choanal atresia microphthalmia and hypogonadotropic hypogonadism | 603457 | autosomal dominant |
| BPES Syndrome | FOXL2, KAT6B | BPES | 110100 | autosomal dominant |
| Branchiooculofacial Syndrome | TFAP2A | BOFS, BOF syndrome | 113620 | autosomal dominant |
| Brittle Cornea Syndrome 1 | ZNF469 | type VIB Ehlers-Danlos syndrome, EDS VIB, EDS6B, BCS1 | 229200 | autosomal recessive |
| Brittle Cornea Syndrome 2 | PRDM5 | BCS2 | 614170 | autosomal recessive |
| Brown-Vialetto-Van Laere Syndrome 2 | SLC52A2 | BVVLS2 | 614707 | autosomal recessive |