Names of Genes by Syndrome

Syndrome Gene Chromosome Location Category
Bainbridge-Ropers syndromeASXL318q12.1Autism spectrum
Bainbridge-Ropers syndromeBRPS18q12.1Autism spectrum
Baraitser-Winter syndromeACTB7p22.1Autism spectrum
Baraitser-Winter syndromeACTG117q25.3Autism spectrum
BECKWITH-WIEDEMANN SYNDROMECDKN1C11p15.4Autism spectrum
BECKWITH-WIEDEMANN SYNDROMEH1911p15.5Autism spectrum
BECKWITH-WIEDEMANN SYNDROMEICR111p15.5Autism spectrum
BECKWITH-WIEDEMANN SYNDROMEKCNQ1OT111p15.5Autism spectrum
Behr syndromeOPA1-both3q29Ataxia spectrum
Benign familial neonatal seizuresKCNQ220q13.33Epilepsy and seizures
Benign familial neonatal seizuresKCNQ38q24.22Epilepsy and seizures
Beta-propeller protein-associated neurodegenerationWDR4523p11.23Ataxia spectrum
beta-propeller protein-associated neurodegenerationWDR4523p11.23Epilepsy and seizures
Beta-ureidopropionase deficiencyUPB122q11.2Microcephaly
Biotinidase deficiencyBTD3p25.1Alopecia
Biotin-thiamine-responsive basal ganglia diseaseSLC19A32q36.3Ataxia spectrum
Blau syndromeNOD216q12.1Photophobia - sensitivity to light
Boerjeson-Forssman-Lehmann syndromePHF623q26.2Epilepsy and seizures
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROMEBBSOAS5q15Autism spectrum
Bowen-Conradi syndromeEMG112p13.3Cleft lip / cleft palate
BRACHYCEPHALY TRICHOMEGALY AND DEVELOPMENTAL DELAYBTDD5q14.2Autism spectrum
Brachydactyly-mental retardation syndromeHDAC42q37.3Autism spectrum
Brain-lung-thyroid syndromeNKX2-114q13.3Hypothyroidism
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCYBCKDKD16p11.2Autism spectrum
Branched-chain ketoacid dehydrogenase kinase deficiencyBCKDK16p11.2Autism spectrum
Branchio-oculo-facial syndromeTFAP2A6p24Cleft lip / cleft palate
Brown-Vialetto-Van Laere syndrome (BVVLS)SLC52A320p13Cerebral palsy
BRUNNER SYNDROMEBRNRS23p11.3Autism spectrum
Burn-McKeown syndromeTXNL4A18q23Cleft lip / cleft palate


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