Syndrome |
Gene |
Chromosome |
Location |
Category |
FAMILIAL ADENOMATOUS POLYPOSIS 1 | FAP1 | 5 | q22.2 | Autism spectrum | |
familial adult myoclonic epilepsy 5 | CNTN2 | 1 | q32.1 | Epilepsy and seizures | |
familial candidiasis (yeast infections) | STAT1 | 2 | q32.2 | Encephalitis | |
Familial encephalopathy with neuroserpin inclusion bodies | SERPINI1 | 3 | q26.1 | Epilepsy and seizures | |
Familial episodic pain syndrome | TRPA1 | 13 | q13 | Tachycardia (>100 beats/minute) | |
Familial exudative vitreoretinopathy | NDP | 23 | p11.3 | Cataracts | |
Familial focal epilepsy with variable foci | DEPDC5 | 22 | q12.2 | Epilepsy and seizures | |
Familial focal epilepsy with variable foci | NPRL2 | 3 | p21.31 | Epilepsy and seizures | |
Familial focal epilepsy with variable foci | NPRL3 | 16 | p13.3 | Epilepsy and seizures | |
Familial idiopathic basal ganglia calcification | SLC20A2 | 8 | p11.21 | Ataxia spectrum | |
Familial keratoconus with cataract (EDICT) | MIR184 | 15 | q25.1 | Cataracts | |
Familial lipoprotein lipase deficiency | LPL | 8 | p21.3 | Hyperlipidemia | |
Familial partial lipodystrophy | ADRA2A | 10 | q25.2 | Diabetes | |
Familial partial lipodystrophy | AKT2 | 19 | q13.2 | Diabetes | |
Familial partial lipodystrophy | CIDEC | 3 | p25.3 | Diabetes | |
Familial partial lipodystrophy | LIPE | 19 | q13.2 | Diabetes | |
Familial partial lipodystrophy | LMNA | 1 | q22 | Diabetes | |
Familial partial lipodystrophy | PLIN1 | 15 | q26.1 | Diabetes | |
Familial partial lipodystrophy | PPARG | 3 | p25.2 | Diabetes | |
Familial porencephaly | COL4A1 | 13 | q34 | Microcephaly | |
Familial retinal arterial macroaneurysm | IGFBP7 | 4 | q12 | Tachycardia (>100 beats/minute) | |
familial temporal lobe epilepsy 5 | CPA6 | 8 | q13.2 | Epilepsy and seizures | |
FATTY ACID AMIDE HYDROLASE 2 | FAAH2 | 23 | p11.21 | Autism spectrum | |
Fatty acid hydroxylase-associated neurodegeneration (FAHN) | FA2H | 16 | q23 | Cerebral palsy | |
Feingold syndrome | MYCN | 2 | p24.3 | Microcephaly | |
Fibrochondrogenesis type 1 | COL11A1 | 1 | p21.1 | Fibrochondrogenesis | |
Fibrochondrogenesis type 2 | COL11A2 | 6 | p21.32 | Fibrochondrogenesis | |
Floating-Harbor syndrome | SRCAP | 16 | p11.12 | Autism spectrum | |
Focal dermal hypoplasia | PORCN | 23 | p11.23 | Cleft lip / cleft palate | |
FOXG1 Syndrome | FOXG1 | 14 | q13 | Autism spectrum | |
FOXP2-related speech and language disorder | FOXP2 | 7 | q31.1 | Autism spectrum | |
FOXP2-related speech and language disorder | FOXP2 | 7 | q31.1 | Autism spectrum | |
FOXP2-related speech and language disorder | FOXP2 | 7 | q31.1 | Autism spectrum | |
FOXP2-related speech and language disorder | FOXP2 | 7 | q31.1 | Autism spectrum | |
Fragile X syndrome | FMR1 | 23 | q27.3 | Autism spectrum | |
Fragile X syndrome | FXS | 23 | q27.3 | Autism spectrum | |
FRAGILE X TREMOR/ATAXIA SYNDROME | FXTAS | 23 | q27.3 | Autism spectrum | |
Fragile XE syndrome | AFF1 | 4 | q21.3 | Autism spectrum | |
Fragile XE syndrome | AFF2 | 23 | q28 | Autism spectrum | |
Fraser syndrome | FRAS1 | 4 | q21.21 | Cleft lip / cleft palate | |
Fraser syndrome | FREM2 | 13 | q13.3 | Cleft lip / cleft palate | |
Fraser syndrome | GRIP1 | 12 | q14.3 | Cleft lip / cleft palate | |
Freeman-Sheldon or Sheldon-Hall | MYH3 | 17 | p13.1 | Arthrogryposis spectrum | |
Freeman-Sheldon syndrome | MYH3 | 17 | p13.1 | Tachycardia (>100 beats/minute) | |
Friedreich ataxia | FXN | 9 | q21.11 | Ataxia spectrum | |
Friedreich ataxia | MIPEP | 13 | q12.12 | Ataxia spectrum | |
Frontonasal dysplasia | ALX1 | 12 | q21.31 | Cleft lip / cleft palate | |
Frontonasal dysplasia | ALX3 | 1 | p13.3 | Cleft lip / cleft palate | |
Fryn`s Syndrome - 1Q41-Q42 microdeletion | BPNT1 | 1 | q41-a42 | Autism spectrum | |
Fryn`s Syndrome - 1Q41-Q42 microdeletion | DISP1 | 1 | q41-a42 | Autism spectrum | |
Fumarase deficiency | FH | 1 | q42.1 | Microcephaly | |