Names of Genes by Syndrome

Syndrome Gene Chromosome Location Category
FAMILIAL ADENOMATOUS POLYPOSIS 1FAP15q22.2Autism spectrum
familial adult myoclonic epilepsy 5CNTN21q32.1Epilepsy and seizures
familial candidiasis (yeast infections)STAT12q32.2Encephalitis
Familial encephalopathy with neuroserpin inclusion bodiesSERPINI13q26.1Epilepsy and seizures
Familial episodic pain syndromeTRPA113q13Tachycardia (>100 beats/minute)
Familial exudative vitreoretinopathyNDP23p11.3Cataracts
Familial focal epilepsy with variable fociDEPDC522q12.2Epilepsy and seizures
Familial focal epilepsy with variable fociNPRL23p21.31Epilepsy and seizures
Familial focal epilepsy with variable fociNPRL316p13.3Epilepsy and seizures
Familial idiopathic basal ganglia calcificationSLC20A28p11.21Ataxia spectrum
Familial keratoconus with cataract (EDICT)MIR18415q25.1Cataracts
Familial lipoprotein lipase deficiencyLPL8p21.3Hyperlipidemia
Familial partial lipodystrophyADRA2A10q25.2Diabetes
Familial partial lipodystrophyAKT219q13.2Diabetes
Familial partial lipodystrophyCIDEC3p25.3Diabetes
Familial partial lipodystrophyLIPE19q13.2Diabetes
Familial partial lipodystrophyLMNA1q22Diabetes
Familial partial lipodystrophyPLIN115q26.1Diabetes
Familial partial lipodystrophyPPARG3p25.2Diabetes
Familial porencephalyCOL4A113q34Microcephaly
Familial retinal arterial macroaneurysmIGFBP74q12Tachycardia (>100 beats/minute)
familial temporal lobe epilepsy 5CPA68q13.2Epilepsy and seizures
FATTY ACID AMIDE HYDROLASE 2FAAH223p11.21Autism spectrum
Fatty acid hydroxylase-associated neurodegeneration (FAHN)FA2H16q23Cerebral palsy
Feingold syndromeMYCN2p24.3Microcephaly
Fibrochondrogenesis type 1COL11A11p21.1Fibrochondrogenesis
Fibrochondrogenesis type 2COL11A26p21.32Fibrochondrogenesis
Floating-Harbor syndromeSRCAP16p11.12Autism spectrum
Focal dermal hypoplasiaPORCN23p11.23Cleft lip / cleft palate
FOXG1 SyndromeFOXG114q13Autism spectrum
FOXP2-related speech and language disorderFOXP27q31.1Autism spectrum
FOXP2-related speech and language disorderFOXP27q31.1Autism spectrum
FOXP2-related speech and language disorderFOXP27q31.1Autism spectrum
FOXP2-related speech and language disorderFOXP27q31.1Autism spectrum
Fragile X syndromeFMR123q27.3Autism spectrum
Fragile X syndromeFXS23q27.3Autism spectrum
FRAGILE X TREMOR/ATAXIA SYNDROMEFXTAS23q27.3Autism spectrum
Fragile XE syndromeAFF14q21.3Autism spectrum
Fragile XE syndromeAFF223q28Autism spectrum
Fraser syndromeFRAS14q21.21Cleft lip / cleft palate
Fraser syndromeFREM213q13.3Cleft lip / cleft palate
Fraser syndromeGRIP112q14.3Cleft lip / cleft palate
Freeman-Sheldon or Sheldon-HallMYH317p13.1Arthrogryposis spectrum
Freeman-Sheldon syndromeMYH317p13.1Tachycardia (>100 beats/minute)
Friedreich ataxiaFXN9q21.11Ataxia spectrum
Friedreich ataxiaMIPEP13q12.12Ataxia spectrum
Frontonasal dysplasiaALX112q21.31Cleft lip / cleft palate
Frontonasal dysplasiaALX31p13.3Cleft lip / cleft palate
Fryn`s Syndrome - 1Q41-Q42 microdeletionBPNT11q41-a42Autism spectrum
Fryn`s Syndrome - 1Q41-Q42 microdeletionDISP11q41-a42Autism spectrum
Fumarase deficiencyFH1q42.1Microcephaly


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