Gene |
Chromosome |
Location |
Syndrome |
AAAS | 12 | q13.13 | Microcephaly - other | |
ABCD4 | 14 | q24.3 | Microcephaly - other | |
ACADS | 12 | q24.31 | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency | |
ACSF3 | 16 | q24.3 | Combined malonic and methylmalonic aciduria (CMAMMA) | |
ADSL | 22 | q13.1 | Microcephaly - other | |
AFF4 | 5 | q31.1 | Microcephaly - other | |
AKT3 | 1 | q44 | Microcephaly - other | |
ALG12 | 22 | q13.33 | Microcephaly - other | |
AMPD2 | 1 | p13.3 | Pontocerebellar hypoplasia | |
ANKLE2 | 12 | q24 | Microcephaly - other | |
ARFGEF2 | 20 | q13.13 | Periventricular heterotopia | |
ARID1A | 1 | p36.11 | Microcephaly - other | |
ARID1B | 6 | q25.3 | Microcephaly - other | |
ASPM | 1 | q31 | Autosomal recessive primary microcephaly | |
ATRX | 23 | q21.1 - al | Microcephaly - other | |
ATRX | 23 | q21.1 | Microcephaly - other | |
BRAT1 | 7 | p22.3 | Rigidity and multifocal seizure syndrome lethal neonatal (RMFSL) | |
BRCA2 | 13 | q13.1 | Microcephaly - other | |
BRIP1 | 17 | q23.2 | Microcephaly - other | |
CASC5 | 15 | q14 | Microcephaly - other | |
CASK | 23 | p11.4 | CASK-related intellectual disability | |
CCBE1 | 18 | q21.32 | Microcephaly - other | |
CDC6 | 17 | q21.3 | Meier-Gorlin syndrome | |
CDK5RAP2 | 9 | q33.2 | Autosomal recessive primary microcephaly | |
CDK6 | 7 | q21-q22 | Microcephaly 12 primary autosomal recessive (MCPH12) | |
CDT1 | 16 | q24.3 | Meier-Gorlin syndrome | |
CENPE | 4 | q24-q25 | Microcephaly 13 primary autosomal recessive (MCPH13) | |
CENPJ | 13 | q12.12 | Autosomal recessive primary microcephaly | |
CEP135 | 4 | q12 | Microcephaly 08 primary autosomal recessive (MCPH8) | |
CEP152 | 15 | q21.1 | Autosomal recessive primary microcephaly | |
CHMP1A | 16 | q24.3 | Pontocerebellar hypoplasia | |
CHRNA1 | 2 | q31.1 | Microcephaly - other | |
CHRND | 2 | q37.1 | Microcephaly - other | |
CHRNG | 2 | q37.1 | Microcephaly - other | |
CIT | 12 | q24 | Microcephaly - other | |
CKAP2L | 2 | q14.1 | Microcephaly - other | |
CLP1 | 11 | q12 | Pontocerebellar hypoplasia | |
COG5 | 7 | q31 | Congenital disorder of glycosylation | |
COL4A1 | 13 | q34 | Familial porencephaly | |
CRIPT | 2 | p21 | Short stature with microcephaly and distinctive facies (SSMF) | |
CTNND2 | 5 | p15.2 | Cri-du-chat (cat`s cry) syndrome | |
CTSD | 11 | p15.5 | Congenital neuronal ceroid lipofuscinosis (NCL) | |
CYB5R3 | 22 | q13.2 | Microcephaly - other | |
DCX | 23 | q23 | Microcephaly - other | |
DDX11 | 12 | p11 | Warsaw breakage syndrome | |
DHCR7 | 11 | q13.4 | Microcephaly - other | |
DISP1 | 1 | q41 | Microcephaly - other | |
DPYD | 1 | p21.3 | Microcephaly - other | |
EFTUD2 | 17 | q21.31 | Mandibulofacial dysostosis with microcephaly | |
EHMT1 | 9 | q34.3 | Microcephaly - other | |
EMG1 | 12 | p13.31 | Microcephaly - other | |
ERCC6 | 10 | q11.23 | Cockayne syndrome | |
ERCC8 | 5 | q12.1 | Cockayne syndrome | |
ESCO2 | 8 | p21.1 | Microcephaly - other | |
EXOSC3 | 9 | p11 | Pontocerebellar hypoplasia | |
FANCA | 16 | q24.3 | Microcephaly - other | |
FANCB | 23 | p22.2 | Microcephaly - other | |
FANCC | 9 | q22.32 | Microcephaly - other | |
FANCD2 | 3 | p25.3 | Microcephaly - other | |
FANCE | 6 | p21.31 | Microcephaly - other | |
FANCF | 11 | p14.3 | Microcephaly - other | |
FANCG | 9 | p13.3 | Microcephaly - other | |
FANCI | 15 | q26.1 | Microcephaly - other | |
FANCL | 2 | p16.1 | Microcephaly - other | |
FANCM | 14 | q21.2 | Microcephaly - other | |
FAR1 | 11 | p15.3 | Microcephaly - other | |
FAT4 | 4 | q28.1 | Microcephaly - other | |
FGF8 | 10 | q24.32 | Microcephaly - other | |
FH | 1 | q42.1 | Fumarase deficiency | |
FLNA | 23 | q28 | Periventricular heterotopia | |
FOXG1 | 14 | q12 | Microcephaly - other | |
FOXH1 | 8 | q24.3 | Microcephaly - other | |
FOXL2 | 3 | q22.3 | Microcephaly - other | |
GJA1 | 6 | q22.31 | Oculodentodigital dysplasia | |
GLI2 | 2 | q14.2 | Microcephaly - other | |
GPHN | 14 | q22.3 | Molybdenum cofactor deficiency | |
HBA1 | 16 | p13.3 | Alpha thalassemia | |
HBA2 | 16 | p13.3 | Alpha thalassemia | |
HCFC1 | 23 | q28 | Microcephaly - other | |
HDAC8 | 23 | q13.1 | Microcephaly - other | |
IER3IP1 | 18 | q12 | Microcephaly epilepsy and diabetes syndrome | |
KAT6B | 10 | q22.2 | Microcephaly - other | |
KCNT1 | 9 | q34.3 | Microcephaly - other | |
KDM6A | 23 | p11.3 | Microcephaly - other | |
KMT2D | 12 | q13.12 | Microcephaly - other | |
KNL1 | 15 | q15.1 | Microcephaly - other | |
LETM1 | 4 | p16.3 | Microcephaly - other | |
LMBRD1 | 6 | q13 | Microcephaly - other | |
MBD5 | 2 | q23.1 | Microcephaly - other | |
MCPH1 | 8 | p23.1 | Autosomal recessive primary microcephaly | |
MECP2 | 23 | q28.1 | Microcephaly - other | |
MED17 | 11 | q14 | Microcephaly postnatal progressive with seizures and brain atrophy | |
MFSD2A | 1 | p34.2 | Microcephaly - other | |
MMACHC | 1 | P34.1 | Microcephaly - other | |
MMSDHC | 2 | q23.2 | Microcephaly - other | |
MOCS1 | 6 | p21.3 | Molybdenum cofactor deficiency | |
MOCS2 | 5 | q11 | Molybdenum cofactor deficiency | |
MSX1 | 4 | p16.2 | Microcephaly - other | |
MT-ATP6 | 0 | 8527-9207 | Leigh syndrome | |
MVK | 12 | q24.11 | Mevalonate kinase deficiency | |
MYCN | 2 | p24.3 | Feingold syndrome | |
NADK | 1 | p36.33 | Microcephaly - other | |
NADK2 | 5 | p13.2 | Microcephaly - other | |
NBN | 8 | q21 | Nijmegen breakage syndrome | |
NDE1 | 16 | p13.11 | Microcephaly - other | |
NIPBL | 5 | p13.2 | Microcephaly - other | |
NODAL | 10 | q22.1 | Microcephaly - other | |
NSD2 | 4 | p16.3 | Microcephaly - other | |
OCA2 | 15 | q13.1 | Microcephaly - other | |
ORC1 | 1 | p32 | Meier-Gorlin syndrome | |
ORC4 | 2 | q22-23 | Meier-Gorlin syndrome | |
ORC6 | 16 | q12 | Meier-Gorlin syndrome | |
PAFAH1B1 | 17 | p13.3 | Microcephaly - other | |
PAH | 12 | q23.2 | Microcephaly - other | |
PALB2 | 16 | P12.2 | Microcephaly - other | |
PCNT | 21 | q22.3 | Osteodysplastic primordial dwarfism type II | |
PHC1 | 12 | q13 | Microcephaly 11 primary autosomal recessive (MCPH11) | |
PHGDH | 1 | p12 | Phosphoglycerate dehydrogenase deficiency | |
PLK4 | 4 | q28 | Microcephaly and chorioretinopathy autosomal recessive 2 (MCCRP2) | |
PNKP | 19 | q13.3-13.4 | Microcephaly seizures and developmental delay (MCSZ) | |
PPP1R15B | 1 | q32.1 | Microcephaly - other | |
PPT1 | 1 | p32 | Infantile neuronal ceroid lipofuscinosis | |
PQBP1 | 23 | p11.23 | Renpenning syndrome | |
PTCH1 | 9 | q22.32 | Microcephaly - other | |
PTRH2 | 17 | q23.1 | Microcephaly - other | |
QARS | 3 | p21.31 | Microcephaly progressive with seizures cerebral/cerebellar atrophy (MSCCA) | |
RAD21 | 8 | q24.11 | Microcephaly - other | |
RAD51C | 17 | q22 | Microcephaly - other | |
RAPSN | 11 | p11.2 | Microcephaly - other | |
RARS2 | 6 | q16.1 | Pontocerebellar hypoplasia | |
RNASEH2A | 19 | p13.13 | Microcephaly - other | |
RNASEH2B | 13 | q14.3 | Microcephaly - other | |
RNASEH2C | 11 | q13.1 | Microcephaly - other | |
RNASET2 | 6 | q27 | Microcephaly - other | |
RPL11 | 1 | p36.11 | Microcephaly - other | |
RPL35A | 3 | q29 | Microcephaly - other | |
RPL5 | 1 | p22.1 | Microcephaly - other | |
RPS10 | 6 | p21.31 | Microcephaly - other | |
RPS17 | 15 | q25.2 | Microcephaly - other | |
RPS19 | 19 | q13.2 | Microcephaly - other | |
RPS24 | 10 | q22.3 | Microcephaly - other | |
RPS26 | 12 | q13.2 | Microcephaly - other | |
RPS6KA3 | 23 | p22.1-.2 | Coffin-Lowry syndrome | |
RPS7 | 2 | p25.3 | Microcephaly - other | |
RRM2B | 8 | q22.3 | Microcephaly - other | |
SAMHD1 | 20 | q11.23 | Microcephaly - other | |
SASS6 | 1 | p21 | Microcephaly - other | |
SCN1A | 2 | q24.3 | Microcephaly - other | |
SEPSECS | 4 | p15.2 | Pontocerebellar hypoplasia | |
SHH | 7 | q36.3 | Microcephaly - other | |
SIX3 | 2 | p21 | Microcephaly - other | |
SLC1A4 | 2 | p14 | Microcephaly - other | |
SLC25A19 | 17 | q25.3 | Amish lethal microcephaly | |
SLC2A1 | 1 | p34.2 | Microcephaly - other | |
SLC6A8 | 23 | q28 | X-linked creatine deficiency | |
SLC9A6 | 23 | q26.3 | Christianson syndrome | |
SLX4 | 16 | p13.3 | Microcephaly - other | |
SMARCA2 | 9 | p24.3 | Microcephaly - other | |
SMARCA4 | 19 | p13.2 | Microcephaly - other | |
SMARCB1 | 22 | q11.23 | Microcephaly - other | |
SMARCE1 | 17 | q21.2 | Microcephaly - other | |
SMC1A | 23 | p11.22 | Microcephaly - other | |
SMC3 | 10 | q25.2 | Microcephaly - other | |
SPR | 2 | p12-p14 | Sepiapterin reductase deficiency | |
STAMBP | 2 | p13.1 | Microcephaly-capillary malformation syndrome | |
STIL | 1 | p32 | Autosomal recessive primary microcephaly | |
TBC1D24 | 16 | p13.3 | Microcephaly - other | |
TCF4 | 18 | q21.2 | Microcephaly - other | |
TDGF1 | 3 | p21.31 | Microcephaly - other | |
TGIF1 | 18 | p11.31 | Microcephaly - other | |
TREX1 | 3 | p21.31 | Microcephaly - other | |
TRMT10A | 4 | q23 | Microcephaly short stature and impaired glucose metabolism | |
TSEN2 | 3 | p25.2 | Pontocerebellar hypoplasia | |
TSEN34 | 19 | q13.4 | Pontocerebellar hypoplasia | |
TSEN54 | 17 | q25.1 | Pontocerebellar hypoplasia | |
TUBA1A | 12 | q13.12 | Microcephaly - other | |
TUBGCP4 | 15 | q15.3 | Microcephaly - other | |
TUBGCP6 | 22 | q13.31-.33 | Microcephaly and chorioretinopathy autosomal recessive 1 (MCCRP1) | |
UBE3A | 15 | q11.2 | Microcephaly - other | |
UBE3B | 12 | q24.11 | Microcephaly - other | |
UPB1 | 22 | q11.2 | Beta-ureidopropionase deficiency | |
VPS13B | 8 | q22.2 | Cohen syndrome | |
VRK1 | 14 | q32 | Pontocerebellar hypoplasia | |
WDR62 | 19 | q13.12 | Autosomal recessive primary microcephaly | |
XRCC4 | 5 | q14.2 | Microcephaly - other | |
ZEB2 | 2 | q22.3 | Mowat-Wilson syndrome | |
ZIC2 | 13 | q32.3 | Microcephaly - other | |
ZNF335 | 20 | q13.12 | Microcephaly 10 primary autosomal recessive (MCPH10) | |