Syndrome |
Gene |
Chromosome |
Location |
Category |
CADHERIN 8 | CDH8 | 16 | q21 | Autism spectrum | |
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA | CAMK2A | 5 | q32 | Autism spectrum | |
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV | CAMK4 | 5 | q22.1 | Autism spectrum | |
CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2 | CADPS2 | 7 | q31.32 | Autism spectrum | |
CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1 | CAMTA1 | 1 | P36.23-31 | Autism spectrum | |
CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY | CAFDADD | 16 | p13.3 | Autism spectrum | |
Cardiofaciocutaneous syndrome | BRAF | 7 | q34 | Autism spectrum | |
Cardiofaciocutaneous syndrome | KRAS | 12 | p12.1 | Autism spectrum | |
Cardiofaciocutaneous syndrome | MAP2K1 | 15 | q22.31 | Autism spectrum | |
Cardiofaciocutaneous syndrome | MAP2K2 | 19 | p13.3 | Autism spectrum | |
Carnevale syndrome | COLEC11 | 2 | p25.3 | Cleft lip / cleft palate | |
Carnitine palmitoyltransferase I deficiency | CPT1A | 11 | q13.3 | Reye`s Syndrome-like diseases | |
Carpenter Syndrome | MEGF8 | 19 | q12 | Autism spectrum | |
Carpenter Syndrome | RAB23 | 6 | p11 | Autism spectrum | |
CASK-related intellectual disability | CASK | 23 | p11.4 | Microcephaly | |
Cataract 01 multiple types (CTRCT1) | GJA8 | 1 | q21.1 | Cataracts | |
Cataract 02 multiple types (CTRCT2) | CRYGC | 2 | q33.3 | Cataracts | |
Cataract 03 multiple types (CTRCT3) | CRYBB2 | 22 | q11.23 | Cataracts | |
Cataract 04 multiple types (CTRCT4) | CRYGD | 2 | q33.3 | Cataracts | |
Cataract 06 multiple types (CTRCT6) | EPHA2 | 1 | P36.13 | Cataracts | |
Cataract 09 multiple types (CTRCT9) | CRYAA | 21 | q22.3 | Cataracts | |
Cataract 10 multiple types (CTRCT10) | CRYBA1 | 17 | q11.2 | Cataracts | |
Cataract 11 multiple types (CTRCT11) | PITX3 | 10 | q24.32 | Cataracts | |
Cataract 12 multiple types (CTRCT12) | BFSP2 | 3 | q22.1 | Autism spectrum | |
Cataract 18 multiple types(CTRCT18) | FYCO1 | 3 | p21.31 | Cataracts | |
Cataract 19 multiple types (CTRCT19) | LIM2 | 19 | q13.41 | Cataracts | |
Cataract 20 multiple types (CTRCT20) | CRYGS | 3 | q27.3 | Cataracts | |
CATARACT 21 MULTIPLE TYPES | CTRCT21 | 16 | q23.2 | Autism spectrum | |
Cataract 21 multiple types (CTRCT21) | MAF | 16 | q23.2 | Cataracts | |
Cataract 22 multiple types (CTRCT22) | CRYBB3 | 22 | q11.23 | Cataracts | |
Cataract 30 multiple types (CTRCT30) | VIM | 10 | p13 | Cataracts | |
Cataract 31 multiple types (CTRCT31) | CHMP4B | 20 | q11.22 | Cataracts | |
Cataract 33 multiple types (CTRCT33) | BFSP1 | 20 | p12.1 | Cataracts | |
Cataract 36 (CTRCT36) | TDRD7 | 9 | q22.33 | Cataracts | |
Cataract 39 multiple types (CTRCT39) | CRYGB | 2 | q33.3 | Cataracts | |
Cataract 40 (CTRCT40) | NHS | 23 | p22.2 | Cataracts | |
Cataract 43 (CTRCT43) | UNC45B | 17 | q12 | Cataracts | |
Cataract 45 (CTRCT45) | SIPA1L3 | 19 | q13.13 | Cataracts | |
Cataract 46 juvenile-onset (CTRCT46) | LEMD2 | 6 | p21.31 | Cataracts | |
Catecholaminergic polymorphic ventricular tachycardia | CASQ2 | 1 | p13.1 | Tachycardia (>100 beats/minute) | |
Catecholaminergic polymorphic ventricular tachycardia | RYR2 | 1 | q43 | Tachycardia (>100 beats/minute) | |
CATENIN BETA-1 | CTNNB1 | 3 | p22.1 | Autism spectrum | |
CCCTC-BINDING FACTOR | CTCF | 16 | q22.1 | Autism spectrum | |
CDC-LIKE KINASE 2 | CLK2 | 1 | q22 | Autism spectrum | |
CDKL5 deficiency disorder | CDKL5 | 23 | p22.13 | Epilepsy and seizures | |
CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND HEARING LOSS | CAPOS | 19 | q13.2 | Autism spectrum | |
Cerebellar ataxia cayman type | ATCAY | 19 | p13.3 | Ataxia spectrum | |
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 02 | WDR81 | 17 | p13.3 | Ataxia spectrum | |
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 03 | CA8 | 8 | q12.1 | Ataxia spectrum | |
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04 | ATP8A2 | 13 | q12.13 | Ataxia spectrum | |
CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATION | CANPMR | 1 | p36.23-31 | Autism spectrum | |
Cerebral autosomal dominant arteriopathy (CADASIL) | NOTCH3 | 19 | p13.12 | Epilepsy and seizures | |
Cerebral autosomal recessive arteriopathy (CARASIL) | HTRA1 | 10 | q26.13 | Alopecia | |
CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | CCDS1 | 23 | q28 | Autism spectrum | |
CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | CCDS2 | 19 | p13.3 | Autism spectrum | |
CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | CCDS3 | 15 | q21.1 | Autism spectrum | |
Cerebral folate transport deficiency | FOLR1 | 11 | q13.4 | Ataxia spectrum | |
Cerebral palsy - unassigned | DMD | 23 | p21.1 | Cerebral palsy | |
Cerebral palsy - unassigned | HSPA4 | 5 | q31.1 | Cerebral palsy | |
Cerebral palsy - unassigned | PACRG | 6 | q26 | Cerebral palsy | |
Cerebral palsy - unassigned | RAPGEF1 | 9 | q34.13 | Cerebral palsy | |
Cerebral palsy - unassigned | WNT4 | 1 | p36.12 | Cerebral palsy | |
Cerebral palsy spastic quadriplegic type 1 (CPSQ1) disorder | GAD1 | 2 | q31 | Cerebral palsy | |
Cerebral palsy spastic quadriplegic type 2 (CPSQ2) disorder | KANK1 | 9 | p24.3 | Cerebral palsy | |
Cerebral palsy spastic quadriplegic type 3 (CPSQ3) disorder | AP4M1 | 7 | q22.1 | Cerebral palsy | |
Cerebral palsy spastic quadriplegic type 4 (CPSQ4) disorder | AP4E1 | 15 | q21.2 | Cerebral palsy | |
Cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder | AP4B1 | 1 | p13.2 | Cerebral palsy | |
Cerebral palsy spastic quadriplegic type 6 (CPSQ6) disorder | AP4S1 | 14 | q12 | Cerebral palsy | |
Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) | ERCC1 | 19 | q13.32 | Arthrogryposis spectrum | |
cerebrotendinous xanthomatosis | CYP27A1 | 2 | q35 | Epilepsy and seizures | |
Chanarin-Dorfman syndrome type 1 | ABHD5 | 3 | p21.33 | Ataxia spectrum | |
Chanarin-Dorfman syndrome type 2 | ABHD5 | 3 | p21.33 | Cataracts | |
CHARGE syndrome | CHD7 | 8 | q12.2 | Cleft lip / cleft palate | |
CHARGE syndrome | SEMA3E | 7 | q21.11 | Cleft lip / cleft palate | |
Chediak-Higashi syndrome | LYST | 1 | q42.3 | Ataxia spectrum | |
childhood absence epilepsy 6 | CACNA1H | 16 | p13.3 | Encephalitis | |
Cholinergic receptor muscarinic 2 | CHRM2 | 7 | q31-q35 | Bradycardia (<60 beats/minute) | |
Chorea-acanthocytosis | VPS13A | 9 | q21.2 | Panic phobia anxiety | |
Christianson syndrome | SLC9A6 | 23 | q26.3 | Microcephaly | |
CHROMOSOME 12 OPEN READING FRAME 57 | C12ORF57 | 12 | p13.31 | Autism spectrum | |
CHROMOSOME 3 OPEN READING FRAME 58 | C3ORF58 | 3 | q24 | Autism spectrum | |
CHROMOSOME X OPEN READING FRAME 36 | CXORF36 | 23 | p11.3 | Autism spectrum | |
Chronic atrial dysrhythmia | SGOL1 | 3 | p24.3 | Bradycardia (<60 beats/minute) | |
Circadian rhythm disruption | RAI1 | 17 | p11.2 | Sleep disorders | |
Citrullinemia | ASS1 | 9 | q34.11 | Ataxia spectrum | |
Citrullinemia | SLC25A13 | 7 | q21.3 | Ataxia spectrum | |
CLCN2-related leukoencephalopathy | CLCN2 | 3 | q27.1 | Ataxia spectrum | |
Cleft palate cardiac defects and mental retardation | CPCMR | 15 | q14 | Cleft lip / cleft palate | |
Cleft palate cardiac defects and mental retardation | MEIS2 | 15 | q14 | Cleft lip / cleft palate | |
CLN1 disease | PPT1 | 1 | p34.2 | Epilepsy and seizures | |
CLN4 disease | DNAJC5 | 20 | q13.33 | Ataxia spectrum | |
CLN6 disease | CLN6 | 15 | q23 | Ataxia spectrum | |
CLN7 disease | MFSD8 | 4 | q28.2 | Ataxia spectrum | |
Clouston syndrome | GJB6 | 13 | q12.11 | Alopecia | |
CLPB deficiency | CLPB | 11 | q13.4 | Cataracts | |
Cockayne syndrome | ERCC6 | 10 | q11.23 | Microcephaly | |
Cockayne syndrome | ERCC8 | 5 | q12.1 | Microcephaly | |
Coffin-Lowry syndrome | RPS6KA3 | 23 | p22.1-.2 | Microcephaly | |
Coffin-Siris syndrome 1 | ARID1B | 6 | q25.3 | Autism spectrum | |
Coffin-Siris syndrome 1 | CSS1 | 6 | q25.3 | Autism spectrum | |
Cohen syndrome | VPS13B | 8 | q22.2 | Microcephaly | |
Color vision deficiency | OPN1LW | 23 | q28 | Photophobia - sensitivity to light | |
Color vision deficiency | OPN1MW | 23 | q28 | Photophobia - sensitivity to light | |
Color vision deficiency | OPN1SW | 7 | q32.1 | Photophobia - sensitivity to light | |
Combined malonic and methylmalonic aciduria (CMAMMA) | ACSF3 | 16 | q24.3 | Microcephaly | |
Combined oxidative phosphorylation deficiency 27 | CARS2 | 13 | q34 | Epilepsy and seizures | |
cone-rod dystrophy | ABCA4 | 1 | p22.1 | Photophobia - sensitivity to light | |
cone-rod dystrophy | CACNA1F | 23 | p11.23 | Photophobia - sensitivity to light | |
Cone-rod dystrophy 7 | RIMS1 | 6 | q13 | Autism spectrum | |
Congenital and juvenile cataracts | TMEM114 | 16 | p13.2 | Cataracts | |
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME | CAKUTHED | 1 | q23.3 | Autism spectrum | |
Congenital cataracts facial dysmorphism and neuropathy | CTDP1 | 18 | q23 | Cataracts | |
Congenital contractural arachnodactyly | FBN2 | 5 | q23-31 | Arthrogryposis spectrum | |
Congenital disorder of glycosylation | COG5 | 7 | q31 | Microcephaly | |
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc | CDG2C | 11 | p11.2 | Autism spectrum | |
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf | CDG2F | 6 | q15 | Autism spectrum | |
CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES | CHDFIDD | 7 | p14.1 | Autism spectrum | |
Congenital hyperinsulinism | ABCC8 | 11 | p15.1 | Diabetes | |
Congenital hyperinsulinism | GCK | 7 | p13 | Diabetes | |
Congenital hyperinsulinism | GLUD1 | 10 | q23.2 | Diabetes | |
Congenital hyperinsulinism | HADH | 4 | q25 | Diabetes | |
Congenital hyperinsulinism | HNF1A | 12 | q24.31 | Diabetes | |
Congenital hyperinsulinism | HNF4A | 20 | q13.12 | Diabetes | |
Congenital hyperinsulinism | KCNJ11 | 11 | p15.1 | Diabetes | |
Congenital hyperinsulinism | SLC16A1 | 1 | p13.2 | Diabetes | |
Congenital hyperinsulinism | UCP2 | 11 | q13.4 | Diabetes | |
Congenital hypothyroidism | DUOX2 | 15 | q21.1 | Hypothyroidism | |
Congenital hypothyroidism | DUOXA2 | 15 | q21.1 | Hypothyroidism | |
Congenital hypothyroidism | GLIS3 | 9 | p24.2 | Hypothyroidism | |
Congenital hypothyroidism | IYD | 6 | q25.1 | Hypothyroidism | |
Congenital hypothyroidism | NKX2-5 | 5 | q35.1 | Hypothyroidism | |
Congenital hypothyroidism | PAX8 | 2 | q14.1 | Hypothyroidism | |
Congenital hypothyroidism | SLC26A4 | 7 | q22.3 | Hypothyroidism | |
Congenital hypothyroidism | SLC5A5 | 19 | p13.11 | Hypothyroidism | |
Congenital hypothyroidism | TG | 8 | q24.22 | Hypothyroidism | |
Congenital hypothyroidism | THRA | 17 | q21.1 | Hypothyroidism | |
Congenital hypothyroidism | TPO | 2 | p25.3 | Hypothyroidism | |
Congenital hypothyroidism | TRHR | 8 | q23.1 | Hypothyroidism | |
Congenital hypothyroidism | TSHB | 1 | p13.2 | Hypothyroidism | |
Congenital hypothyroidism | TSHR | 14 | q31.1 | Hypothyroidism | |
Congenital myasthenic syndrome | CHRNA1 | 2 | q31.1 | Arthrogryposis spectrum | |
Congenital myasthenic syndrome | CHRND | 2 | q37.1 | Arthrogryposis spectrum | |
Congenital neuronal ceroid lipofuscinosis (NCL) | CTSD | 11 | p15.5 | Microcephaly | |
Congenital stromal corneal dystrophy | DCN | 12 | q21.33 | Photophobia - sensitivity to light | |
Corneal dystrophy Fuchs endothelial 3 (FECD3) | MBNL1 | 3 | q25.1 | Cataracts | |
Cornelia de Lange Syndrome | HDAC8 | 23 | q13 | Autism spectrum | |
Cornelia de Lange Syndrome | NIPBL | 5 | p13.2 | Autism spectrum | |
Cornelia de Lange Syndrome | RAD21 | 8 | q24 | Autism spectrum | |
Cornelia de Lange Syndrome | SMC1A | 23 | p11.21-22 | Autism spectrum | |
Cornelia de Lange Syndrome | SMC3 | 10 | q25 | Autism spectrum | |
CORNELIA DE LANGE SYNDROME 1 | CDLS1 | 5 | p13.2 | Autism spectrum | |
CORTACTIN-BINDING PROTEIN 2 | CTTNBP2 | 7 | q31.31 | Autism spectrum | |
Cortical dysplasia with other brain malformations 2 (CDCBM2) | KIF5C | 2 | q23.1 | Arthrogryposis spectrum | |
Costeff syndrome | OPA3-both | 19 | q13.32 | Cataracts | |
COSTELLO SYNDROME | CSTLO | 11 | p15.5 | Autism spectrum | |
COWDEN SYNDROME 1 | CWS1 | 10 | q23.31 | Autism spectrum | |
Cowder Syndrome | PTEN | 10 | q23.31 | Autism spectrum | |
CRANIOSYNOSTOSIS 3 | CRS3 | 15 | q21.3 | Autism spectrum | |
CRANIOSYNOSTOSIS 6 | CRS6 | 3 | q24 | Autism spectrum | |
Cri-du-chat (cat`s cry) syndrome | CTNND2 | 5 | p15.2 | Microcephaly | |
Crohn Disease | ADAM17 | 2 | p25.1 | Irritable Bowel Disorders | |
Crohn Disease | ATG16L1 | 2 | q37.1 | Irritable Bowel Disorders | |
Crohn Disease | FGFR1OP | 6 | q27 | Irritable Bowel Disorders | |
Crohn Disease | HLA-DRB1 | 6 | p21.32 | Irritable Bowel Disorders | |
Crohn Disease | HP | 16 | q22.2 | Irritable Bowel Disorders | |
Crohn Disease | IL10 | 1 | q32.1 | Irritable Bowel Disorders | |
Crohn Disease | IL12B | 5 | q33.3 | Irritable Bowel Disorders | |
Crohn Disease | IL23R | 1 | p31.3 | Irritable Bowel Disorders | |
Crohn Disease | IRGM | 5 | q33.1 | Irritable Bowel Disorders | |
Crohn Disease | JAK2 | 9 | p24.1 | Irritable Bowel Disorders | |
Crohn Disease | LACC1 | 13 | q14.11 | Irritable Bowel Disorders | |
Crohn Disease | LRRK2 | 12 | q12 | Irritable Bowel Disorders | |
Crohn Disease | MUC2 | 11 | p15.5 | Irritable Bowel Disorders | |
Crohn Disease | NOD2 | 16 | q12.1 | Irritable Bowel Disorders | |
Crohn Disease | SLC11A1 | 2 | q35 | Irritable Bowel Disorders | |
Crohn Disease | SLC22A4 | 5 | q31.1 | Irritable Bowel Disorders | |
Crohn Disease | SLC22A5 | 5 | q31.1 | Irritable Bowel Disorders | |
Crohn Disease | STAT3 | 17 | q21.2 | Irritable Bowel Disorders | |
Crohn Disease | TPMT | 6 | p22.3 | Irritable Bowel Disorders | |
Crohn Disease | TYK2 | 19 | p13.2 | Irritable Bowel Disorders | |
Crouzon syndrome | FGF10 | 5 | p12-13 | Cleft lip / cleft palate | |
Crouzon syndrome | FGFR2 | 10 | q26 | Cleft lip / cleft palate | |
Crouzon syndrome | FGFR3 | 4 | p16.3 | Cleft lip / cleft palate | |
Cryptogenic cirrhosis | KRT18 | 12 | q13.13 | Diabetes | |
Cryptogenic cirrhosis | KRT8 | 12 | q13.13 | Diabetes | |
CUTIS LAXA AUTOSOMAL DOMINANT 3 | ADCL3 | 10 | q24.1 | Autism spectrum | |
Cutis laxa autosomal recessive 3A (ARCL3A) | ALDH18A1 | 10 | q24.1 | Cataracts | |
CUT-LIKE HOMEOBOX 1 | CUX1 | 7 | q22.1 | Autism spectrum | |
CUT-LIKE HOMEOBOX 2 | CUX2 | 12 | q24.11-12 | Autism spectrum | |
CYCLIN-DEPENDENT KINASE INHIBITOR 1B | CDKN1B | 12 | p13.1 | Autism spectrum | |
Cystinosis | CTNS | 17 | p13.2 | Photophobia - sensitivity to light | |
CYSTINURIA TYPE A | SLC3A1 | 2 | p21 | Autism spectrum | |
CYSTINURIA TYPE A | SLC7A9 | 19 | q13.11 | Autism spectrum | |
Cytochrome-c oxidase deficiency | COX20 | 1 | q44 | Ataxia spectrum | |
CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4 | CPEB4 | 5 | q35.2 | Autism spectrum | |