Gene |
Location |
Syndrome |
Category |
MRD32 | p11.21 | MENTAL RETARDATION AUTOSOMAL DOMINANT 32 | Autism spectrum | |
POMK | p11.21 | Walker-Warburg syndrome | Microphthalmia | |
RNF170 | p11.21 | Ataxia sensory autosomal dominant type 01 | Ataxia spectrum | |
SLC20A2 | p11.21 | Familial idiopathic basal ganglia calcification | Ataxia spectrum | |
FGFR1 | p11.22-23 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
FGFR1 | p11.23 | ECCL Encephalocraniocutaneous lipomatosis | Alopecia | |
PLPBP | p11.23 | Epilepsy early-onset vitamin B6-dependent | Epilepsy and seizures | |
GSR | p12 | gamma-Glutamyltransferase deficiency | Polymorphous light eruption | |
WRN | p12 | Thyroid disorders | Hypothyroidism | |
WRN | p12 | Werner syndrome | Cataracts | |
WRN | p12 | Type 2 Diabetes | Diabetes | |
ESCO2 | p21.1 | Roberts syndrome | Cleft lip / cleft palate | |
ESCO2 | p21.1 | Microcephaly - other | Microcephaly | |
CHRNA2 | p21.2 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
HR | p21.3 | Hypotrichosis 4 | Alopecia | |
HR | p21.3 | Atrichia with papular lesions | Alopecia | |
HR | p21.3 | Thyroid disorders | Hypothyroidism | |
HR | p21.3 | Alopecia universalis congenita (ALUNC) | Alopecia | |
LPL | p21.3 | Familial lipoprotein lipase deficiency | Hyperlipidemia | |
ASAH1 | p22 | Spinal muscular atrophy with progressive myoclonic epilepsy | Epilepsy and seizures | |
MRT7 | p22 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 7 | Autism spectrum | |
MSR1 | p22 | Alzheimer - late onset | Alzheimer Syndrome | |
PCM1 | p22 | Thyroid disorders | Hypothyroidism | |
BLK | p23.1 | Rheumatoid arthritis | Arthritis | |
GATA4 | p23.1 | heterotaxy syndrome | Heterotaxy | |
LONRF1 | p23.1 | Autism 18 (AUTS18) | Autism spectrum | |
MCPH1 | p23.1 | Autosomal recessive primary microcephaly | Microcephaly | |
MIR3926-1 | p23.1 | Autism 18 (AUTS18) | Autism spectrum | |
MIR3926-2 | p23.1 | Autism 18 (AUTS18) | Autism spectrum | |
CLN8 | p23.3 | Neuronal ceroid lipofuscinosis disease type 08 | Ataxia spectrum | |
CA8 | q12.1 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 03 | Ataxia spectrum | |
CHD7 | q12.2 | CHARGE syndrome | Cleft lip / cleft palate | |
TTPA | q12.3 | Ataxia with vitamin E deficiency | Ataxia spectrum | |
CPA6 | q13.2 | familial temporal lobe epilepsy 5 | Epilepsy and seizures | |
EYA1 | q13.3 | Lens clouding / cornea clouding | Cataracts | |
NCOA2 | q13.3 | Thyroid disorders | Hypothyroidism | |
NBN | q21 | Nijmegen breakage syndrome | Microcephaly | |
CNGB3 | q21.3 | Achromatopsia | Photophobia - sensitivity to light | |
IDDFSDA | q21.3 | INTELLECTUAL DEVELOPMENTAL DISORDER 4 | Autism spectrum | |
DPYS | q22 | Dihydropyrimidinase deficiency | Autism spectrum | |
RUNX1T1 | q22 | Acute lymphoblastic leukemia | Leukemia | |
GDF6 | q22.1 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
NMLFS | q22.1 | NABLUS MASK-LIKE FACIAL SYNDROME | Autism spectrum | |
PDP1 | q22.1 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
SDC2 | q22.1 | SYNDECAN 2 | Autism spectrum | |
VPS13B | q22.2 | Cohen syndrome | Microcephaly | |
POPCHAS | q22.3 | POPOV-CHANG SYNDROME | Autism spectrum | |
RRM2B | q22.3 | Microcephaly - other | Microcephaly | |
SRXY9 | q23.1 | 46 XY SEX REVERSAL 9 | Autism spectrum | |
TRHR | q23.1 | Congenital hypothyroidism | Hypothyroidism | |
RAD21 | q24 | Cornelia de Lange Syndrome | Autism spectrum | |
TG | q24 | Graves Disease | Bradycardia (<60 beats/minute) | |
RAD21 | q24.11 | Microcephaly - other | Microcephaly | |
SLC30A8 | q24.11 | Type 2 Diabetes | Diabetes | |
RFN139 | q24.13 | Thyroid disorders | Hypothyroidism | |
TRIB1 | q24.13 | Non-alcoholic fatty liver disease | Diabetes | |
WASHC5 | q24.13 | Spastic paraplegia type 8 | Copper metabolism defects | |
KCNQ3 | q24.22 | Benign familial neonatal seizures | Epilepsy and seizures | |
TG | q24.22 | Congenital hypothyroidism | Hypothyroidism | |
TG | q24.22 | Graves disease - overactive thyroid | Hyperthyroidism | |
ZFAT | q24.22 | Thyroid disorders | Hypothyroidism | |
FOXH1 | q24.3 | heterotaxy syndrome | Heterotaxy | |
FOXH1 | q24.3 | Microcephaly - other | Microcephaly | |
MRT13 | q24.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 13 | Autism spectrum | |
PLEC | q24.3 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
PUF60 | q24.3 | POLY-U-BINDING SPLICING FACTOR 60-KD | Autism spectrum | |
RECQL4 | q24.3 | Rothmund-Thomson syndrome | Cataracts | |
VRJS | q24.3 | VERHEIJ SYNDROME | Autism spectrum | |