Disorders: B

Disorders Alternate Names Genes Inheritance Pattern
Baller-Gerold Syndrome craniosynostosis with radial defects, craniosynostosis-radial aplasia syndrome RECQL4 autosomal recessive
Baraitser-Winter Syndrome 1 BRWS1 ACTB autosomal dominant
Baraitser-Winter Syndrome 2 BRWS2 ACTG1 autosomal dominant?
Barber-Say Syndrome hypertrichosis atrophic skin ectropion and macrostomia syndrome TWIST2 autosomal dominant
Bardet-Biedl Syndromes BBS multiple autosomal recessive
Basal Cell Nevus Syndrome BCNS, Gorlin syndrome, Gorlin-Goltz syndrome, NBCCS, nevoid basal cell carcinoma syndrome PTCH1 autosomal dominant
Basel-Vanagaite-Smirin-Yosef Syndrome BVSYS MED25 autosomal recessive
Beare-Stevenson Syndrome cutis gyrata syndrome of Beare and Stevenson FGFR2 autosomal dominant?
Behcet-Like Familial Autoinflammatory Syndrome AISBL, Behcet-like syndrome TNFAIP3 autosomal dominant
Behr Early Onset Optic Atrophy Syndromes Behr infantile hereditary optic atrophy, Behr syndrome, Costeff syndrome, OPA3, optic atrophy plus syndrome OPA3 autosomal recessive
Behr Syndrome BEHRS, Infantile Hereditary Optic Atrophy with Neurologic Abnormalities OPA1 autosomal recessive
Biemond Syndrome II Biemond syndrome II ? autosomal dominant?
Bietti Crystalline Corneoretinal Dystrophy BCD, Bietti tapetoretinal degeneration with marginal corneal dystrophy CYP4V2 autosomal recessive
Birk-Landau-Perez Syndrome BILAPES SLC30A9 autosomal recessive
Blatt Distichiasis autosomal dominant
Blepharocheilodontic Syndrome BCD syndrome, BCDS, Elschning syndrome ? autosomal dominant
Blepharoptosis, Myopia, Ectopia Lentis ? autosomal dominant
Blue Cone Monochromacy BCM, blue cone monochromatism, CBBM, cone dystrophy 5' X-linked recessive
Blue Diaper Syndrome Drummond syndrome, familial hypercalcemia with nephrocalcinosis and indicanuria ? autosomal recessive?
Bornholm Eye Disease BED, high myopia with nonprogressive cone dysfunction, X-linked myopia Xq28 locus X-linked recessive
Bosma Arhinia Microphthalmia Syndrome arihina choanal atresia microphthalmia and hypogonadotropic hypogonadism, BAMS SMCHD1 autosomal dominant
BPES Syndrome BPES FOXL2, KAT6B autosomal dominant
Branchiooculofacial Syndrome BOF syndrome, BOFS TFAP2A autosomal dominant
Brittle Cornea Syndrome 1 BCS1, EDS VIB, EDS6B, type VIB Ehlers-Danlos syndrome ZNF469 autosomal recessive
Brittle Cornea Syndrome 2 BCS2 PRDM5 autosomal recessive