Syndrome |
Gene |
Chromosome |
Location |
Category |
PACS1 syndrome | PACS1 | 11 | q13.1 | Autism spectrum |
Pallister-Killian mosaic syndrome | multiple | 12 | iso(p) | Cleft lip / cleft palate |
PALLISTER-KILLIAN SYNDROME | PKS | 12 | p | Autism spectrum |
Parkinson disease - other | GBA | 1 | q22 | Parkinsonism |
Parkinson disease - other | LRRK2 | 12 | q12 | Parkinsonism |
Parkinson disease - other | PARK7 | 1 | p36.23 | Parkinsonism |
Parkinson disease - other | PINK1 | 1 | p36.12 | Parkinsonism |
Parkinson disease - other | PRKN | 6 | q26 | Parkinsonism |
Parkinson disease - other | SNCA | 4 | q22.1 | Parkinsonism |
Parkinson disease - other | UCHL1 | 4 | p13 | Parkinsonism |
Parkinson disease age at onset | PARK10 | 1 | p32 |
Parkinsonism |
Parkinson disease autosomal dominant | CHCHD2 | 7 |
p11.2 | Parkinsonism |
Parkinson disease autosomal dominant | PARK3 | 2 | p13 |
Parkinsonism |
Parkinson disease autosomal recessive | FBXO7 | 22 |
q12.3 | Parkinsonism |
Parkinson disease autosomal recessive | PLA2G6 | 22 |
q13.1 | Parkinsonism |
Parkinson disease autosomal recessive | VPS13C | 15 |
q22,.2 | Parkinsonism |
Parkinson disease early onset | DNAJC6 | 1 | p31.3 |
Parkinsonism |
Parkinson disease early onset |
SYNJ1 | 21 |
q22.11 | Parkinsonism |
Parkinson disease susceptability | ADH1C | 4 | q23 |
Parkinsonism |
Parkinson disease susceptability | ATXN2 | 12 | q24.12 |
Parkinsonism |
Parkinson disease susceptability | ATXN8OS | 13 |
q21.33 | Parkinsonism |
Parkinson disease susceptability | GLUD2 | 23 | q24 |
Parkinsonism |
Parkinson disease susceptability | TBP | 6 | q27 |
Parkinsonism |
Parkinson disease x-linked | PARK12 | 23 | q21-25 |
Parkinsonism |
Parkinson disease type 9 | ATP13A2 | 1 | p36.13 | Parkinsonism |
Parkinson Disease type 11 | GIGYF2 | 2 | q37.1 | Parkinsonism |
Parkinson Disease type 13 | HTRA2 | 2 | p13.1 | Parkinsonism |
Parkinson Disease type 17 | VPS35 | 16 | q11.2 | Parkinsonism |
Parkinson Disease type 18 | EIF4G1 | 3 | q27.1 | Parkinsonism |
Parkinson-dementia syndrome | MAPT | 17 |
q21.31 | Parkinsonism |
Paroxysmal extreme pain disorder | SCN2A | 2 | q24.3 | Bradycardia (<60 beats/minute) |
Paroxysmal nocturnal hemoglobinuria | PIGA | 23 | p22.1 | Tachycardia (>100 beats/minute) |
Partington syndrome | ARX | 23 | p21.3 | Autism spectrum |
Patau syndrome | trisomy | 13 | all | Cleft lip / cleft palate |
Pelizaeus-Merzbacher disease | PLP1 | 23 | q22.2 | Ataxia spectrum |
Pelizaeus-Merzbacher-like disease type 01 | GJC2 | 1 | q42.13 | Ataxia spectrum |
Periodic fever - menstrual cycle-dependent | HTR1A | 5 | q12.3 | Panic phobia anxiety |
Periventricular heterotopia | ARFGEF2 | 20 | q13.13 | Microcephaly |
Periventricular heterotopia | FLNA | 23 | q28 | Microcephaly |
Permanent neonatal diabetes mellitus | ABCC8 | 11 | p15.1 | Diabetes |
Permanent neonatal diabetes mellitus | GCK | 7 | p13 | Diabetes |
Permanent neonatal diabetes mellitus | INS | 11 | p15.5 | Diabetes |
Permanent neonatal diabetes mellitus | KCNJ11 | 11 | p15.1 | Diabetes |
Permanent neonatal diabetes mellitus | PDX1 | 13 | q12.2 | Diabetes |
Peroxisomal acyl-CoA oxidase deficiency | ACOX1 | 17 | q25.1 | Epilepsy and seizures |
PEROXISOME BIOGENESIS DISORDER 9B | PBD9B | 6 | q23.3 | Autism spectrum |
Perrault syndrome | CGF1 | 23 | p11.22 | Ataxia spectrum |
Perrault syndrome | CLPP | 19 | p13.3 | Ataxia spectrum |
Perrault syndrome | HARS2 | 5 | q31.3 | Ataxia spectrum |
Perrault syndrome | HSD17B4 | 5 | q23.1 | Ataxia spectrum |
Perrault syndrome | LARS2 | 3 | p21.31 | Ataxia spectrum |
Pervasive Developmental Delay - not otherwise specified | NLGN2 | 17 | p13.1 | Pervasive Developmental Delay |
Pervasive Developmental Delay - not otherwise specified | NRXN2 | 11 | q13.1 | Pervasive Developmental Delay |
Pervasive Developmental Delay - not otherwise specified | NRXN3 | 14 | q24.3 | Pervasive Developmental Delay |
Peters plus syndrome | B3GLCT | 13 | q12.3 | Cleft lip / cleft palate |
Phelan-McDermid Syndrome | PHMDS | 22 | q13.33 | Autism spectrum |
Phelan-McDermid Syndrome | SHANK3 | 22 | q13.33 | Autism spectrum |
PHENYLKETONURIA | PKU | 12 | q23.2 | Autism spectrum |
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEIN | PIGH | 14 | q24.1 | Autism spectrum |
Phosphoglycerate dehydrogenase deficiency | PHGDH | 1 | p12 | Microcephaly |
Phosphoglycerate kinase deficiency | PGK1 | 23 | q13.3 | Tachycardia (>100 beats/minute) |
Pilarowski-Bjornsson syndrome | CHD1 | 5 | q15-21.1 | Autism spectrum |
Pilarowski-Bjornsson syndrome | PILBOS | 5 | q15-q21 | Autism spectrum |
Pitt-Hopkins syndrome | NRXN1 | 2 | p16.3 | Autism spectrum |
Pitt-Hopkins syndrome | TCF4 | 18 | q21.1 | Autism spectrum |
PITT-HOPKINS-LIKE SYNDROME 1 | PTHSL1 | 7 | q35-q36 | Autism spectrum |
Pitt-Hopkins-like syndrome 2 | NRXN1 | 2 | p16.3 | Autism spectrum |
Pitt-Hopkins-like syndrome 2 | PTHSL2 | 2 | p16.3 | Autism spectrum |
PMM2-congenital disorder of glycosylation | PMM2 | 6 | p13.2 | Ataxia spectrum |
Pol III-related leukodystrophy | POLR3A | 10 | q22.3 | Ataxia spectrum |
Pol III-related leukodystrophy | POLR3B | 12 | q23.3 | Ataxia spectrum |
Polyhydramnios megalencephaly and symptomatic epilepsy | STRADA | 17 | q23.3 | Epilepsy and seizures |
Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) | ABHD12 | 20 | p11.21 | Cataracts |
POLY-U-BINDING SPLICING FACTOR 60-KD | PUF60 | 8 | q24.3 | Autism spectrum |
Pontocerebellar hypoplasia | AMPD2 | 1 | p13.3 | Microcephaly |
Pontocerebellar hypoplasia | CHMP1A | 16 | q24.3 | Microcephaly |
Pontocerebellar hypoplasia | CLP1 | 11 | q12 | Microcephaly |
Pontocerebellar hypoplasia | EXOSC3 | 9 | p11 | Microcephaly |
Pontocerebellar hypoplasia | RARS2 | 6 | q16.1 | Microcephaly |
Pontocerebellar hypoplasia | SEPSECS | 4 | p15.2 | Microcephaly |
Pontocerebellar hypoplasia | TSEN2 | 3 | p25.2 | Microcephaly |
Pontocerebellar hypoplasia | TSEN34 | 19 | q13.4 | Microcephaly |
Pontocerebellar hypoplasia | TSEN54 | 17 | q25.1 | Microcephaly |
Pontocerebellar hypoplasia | VRK1 | 14 | q32 | Microcephaly |
PONTOCEREBELLAR HYPOPLASIA TYPE 11 | PCH11 | 3 | q12.1-2 | Autism spectrum |
POPOV-CHANG SYNDROME | POPCHAS | 8 | q22.3 | Autism spectrum |
PORETTI-BOLTSHAUSER SYNDROME | PTBHS | 18 | p11.31 | Autism spectrum |
Posterior column ataxia with retinitis pigmentosa | FLVCR1 | 1 | q32.3 | Ataxia spectrum |
POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13 | KCTD13 | 16 | p11.2 | Autism spectrum |
POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3 | KCTD3 | 1 | q41 | Autism spectrum |
POTASSIUM CHANNEL VOLTAGE-GATED SUBFAMILY H MEMBER 5 | KCNH5 | 14 | q23.2 | Autism spectrum |
Potassium gated epilepsy and autism | KCND2 | 7 | q31 | Autism spectrum |
Potocki-Lupski syndrome | PTLS | 17 | p11.2 | Autism spectrum |
Potocki-Lupski syndrome | RAI1 | 17 | p11.2 | Autism spectrum |
Potocki-Shaffer syndrome | ALX4 | 11 | p11.2 | Autism spectrum |
Potocki-Shaffer syndrome | EXT2 | 11 | p11-12 | Autism spectrum |
Potocki-Shaffer syndrome | PHF21A | 11 | p11 | Autism spectrum |
PPP2R5D-related intellectual disability | PPP2R5D | 6 | p21.1 | Autism spectrum |
Prader-Willi | HBII-85 | 15 | p11-13 | Autism spectrum |
Prader-Willi | HERC2 | 15 | q13 | Autism spectrum |
Prader-Willi | MAGEL2 | 15 | q11.2 | Autism spectrum |
Prader-Willi | OCA2 | 15 | q21.3 | Autism spectrum |
PRECEREBELLIN 1 | CBLN1 | 16 | q12.1 | Autism spectrum |
PRICKLE1-related progressive myoclonus epilepsy with ataxia | PRICKLE1 | 12 | q12 | Ataxia spectrum |
Primary carnitine deficiency | SLC22A5 | 5 | q31.1 | Reye`s Syndrome-like diseases |
Primary coenzyme Q10 deficiency | COQ2 | 4 | Q21.22 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | COQ4 | 9 | Q34.11 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | COQ6 | 14 | Q24.3 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | COQ7 | 16 | P12.3 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | COQ8A | 1 | Q42.13 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | COQ8B | 19 | q13.2 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | COQ9 | 16 | q21 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | PDSS1 | 10 | p12.1 | Ataxia spectrum |
Primary coenzyme Q10 deficiency | PDSS2 | 6 | q21 | Ataxia spectrum |
Primrose syndrome | PRIMS | 3 | q13.31 | Autism spectrum |
Primrose syndrome | ZBTB20 | 3 | q13.31 | Autism spectrum |
Progressive external ophthalmoplegia | AFG3L2 | 18 | p11.21 | Ataxia spectrum |
Progressive external ophthalmoplegia | DNA2 | 10 | q21.3 | Ataxia spectrum |
Progressive external ophthalmoplegia | MT-TI | 0 | 4263 | Ataxia spectrum |
Progressive external ophthalmoplegia | POLG2 | 17 | q23.3 | Ataxia spectrum |
Progressive external ophthalmoplegia | RNASEH1 | 2 | p25.3 | Ataxia spectrum |
Progressive external ophthalmoplegia | SLC25A4 | 4 | q35.1 | Ataxia spectrum |
Progressive external ophthalmoplegia | SPG7 | 16 | q24.3 | Ataxia spectrum |
Progressive external ophthalmoplegia | TK2 | 16 | q21 | Ataxia spectrum |
Progressive familial heart block | TRPM4 | 19 | q13.33 | Bradycardia (<60 beats/minute) |
progressive myoclonic epilepsy 3 | KCDT7 | 7 | q11.21 | Epilepsy and seizures |
progressive myoclonic epilepsy 5 | PRICKLE2 | 3 | p14.1 | Epilepsy and seizures |
progressive myoclonic epilepsy 8 | CERS1 | 19 | p13.11 | Epilepsy and seizures |
Progressive supranuclear palsy | MAPT | 17 | q21.1 | Cerebral palsy |
PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORM | PPP2R2C | 4 | p16.1 | Autism spectrum |
PROTOCADHERIN 10 | PCDH10 | 4 | q28.3 | Autism spectrum |
Pseudohypoaldosteronism type IIE | CUL3 | 2 | q36.2 | Autism spectrum |
Psychomotor retardation epilepsy and craniofacial dysmorphism | SNIP1 | 1 | p34.3 | Epilepsy and seizures |
PURA syndrome | PURA | 5 | q31.3 | Epilepsy and seizures |
PURA syndrome | PURA | 5 | q31.3 | Epilepsy and seizures |
Purine nucleoside phosphorylase deficiency | PNP | 14 | q11.2 | Ataxia spectrum |
Pyridoxal 5`-phosphate-dependent epilepsy | PNP0 | 17 | q21.32 | Bradycardia (<60 beats/minute) |
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | PNPOD | 17 | q21.32 | Autism spectrum |
Pyridoxine-dependent epilepsy | ALDH7A1 | 5 | q23.2 | Epilepsy and seizures |
Pyruvate dehydrogenase deficiency | DLAT | 11 | q23.1 | Ataxia spectrum |
Pyruvate dehydrogenase deficiency | PDHA1 | 23 | p22.12 | Ataxia spectrum |
Pyruvate dehydrogenase deficiency | PDHB | 3 | p14.3 | Ataxia spectrum |
Pyruvate dehydrogenase deficiency | PDHX | 11 | p13 | Ataxia spectrum |
Pyruvate dehydrogenase deficiency | PDP1 | 8 | q22.1 | Ataxia spectrum |
Pyruvate kinase deficiency | PKLR | 1 | q21 | Tachycardia (>100 beats/minute) |