Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ANKLE2 CL E G H | 23141 | 29101 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ANKLE2 CL E G H | 23141 | 29101 | OMIM:616681 | Microcephaly 16, primary, autosomal recessive | . | | | 3 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ASPM CL E G H | 259266 | 19048 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 512 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ASPM CL E G H | 259266 | 19048 | OMIM:608716 | Microcephaly 5, primary, autosomal recessive | . | | | 512 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 181 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | . | | | 181 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CDK6 CL E G H | 1021 | 1777 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 6 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CDK6 CL E G H | 1021 | 1777 | OMIM:616080 | Microcephaly 12, primary, autosomal recessive | . | | | 6 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CENPE CL E G H | 1062 | 1856 | OMIM:616051 | Microcephaly 13, primary, autosomal recessive | . | | | 20 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 161 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CEP135 CL E G H | 9662 | 29086 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 38 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CEP135 CL E G H | 9662 | 29086 | OMIM:614673 | Microcephaly 8, primary, autosomal recessive | . | | | 38 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 146 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CEP63 CL E G H | 80254 | 25815 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 31 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CIT CL E G H | 11113 | 1985 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 15 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:618500 | Holoprosencephaly 12 with or without pancreatic agenesis | . | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | COASY CL E G H | 80347 | 29932 | OMIM:618266 | Pontocerebellar hypoplasia, type 12 | . | | | 16 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | COPB2 CL E G H | 9276 | 2232 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | . | | | 13 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | . | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040282 - Frequent | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040281 - Very frequent | | | 141 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 10 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KIF14 CL E G H | 9928 | 19181 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 9 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | . | | | 9 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | . | | | 9 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040283 - Occasional | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KNL1 CL E G H | 57082 | 24054 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 112 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | . | | | 112 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | MCM7 CL E G H | 4176 | 6950 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | MCPH1 CL E G H | 79648 | 6954 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 155 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | METTL5 CL E G H | 29081 | 25006 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | MFSD2A CL E G H | 84879 | 25897 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NCAPD2 CL E G H | 9918 | 24305 | OMIM:617983 | Microcephaly 21, primary, autosomal recessive | . | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NCAPD3 CL E G H | 23310 | 28952 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NCAPH CL E G H | 23397 | 1112 | OMIM:617985 | Microcephaly 23, primary, autosomal recessive | . | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 96 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040281 - Very frequent | | | 20 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | . | | | 5 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:2209 | Maternal phenylketonuria | HP:0040284 - Very rare | | | 641 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PHC1 CL E G H | 1911 | 3182 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 16 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | . | | | 23 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | . | | | 11 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 11 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | | | | 68 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RELN CL E G H | 5649 | 9957 | OMIM:257320 | Lissencephaly 2 | | | | 334 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 334 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040282 - Frequent | | | 15 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RRP7A CL E G H | 27341 | 24286 | OMIM:619453 | MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28 | | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040282 - Frequent | | | 113 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SASS6 CL E G H | 163786 | 25403 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 4 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 66 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040281 - Very frequent | | | 36 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | STIL CL E G H | 6491 | 10879 | OMIM:612703 | Microcephaly 7, primary, autosomal recessive | . | | | 99 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TAF13 CL E G H | 6884 | 11546 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TRAPPC10 CL E G H | 7109 | 11868 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TRAPPC14 CL E G H | 55262 | 25604 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 3 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 84 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | . | | | 84 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 57 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 102 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | HP:0040283 - Occasional | | | 102 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TUBGCP4 CL E G H | 27229 | 16691 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TUBGCP6 CL E G H | 85378 | 18127 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TUBGCP6 CL E G H | 85378 | 18127 | OMIM:251270 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | . | | | 61 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | WDR62 CL E G H | 284403 | 24502 | ORPHA:2512 | Autosomal recessive primary microcephaly | HP:0040281 - Very frequent | | | 224 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0000340 | HP:0000340 | Sloping forehead | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |