Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000400 | HP:0000400 | Macrotia | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | . | | | 85 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ALKBH8 CL E G H | 91801 | 25189 | OMIM:618504 | Intellectual developmental disorder, autosomal recessive 71 | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | . | | | 102 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | . | | | 38 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BRWD3 CL E G H | 254065 | 17342 | OMIM:300659 | MENTAL RETARDATION, X-LINKED 93; MRX93 | | | | 104 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040282 - Frequent | | | 118 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CENPE CL E G H | 1062 | 1856 | OMIM:616051 | Microcephaly 13, primary, autosomal recessive | | | | 20 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CHRNA7 CL E G H | 1139 | 1960 | ORPHA:199318 | 15q13.3 microdeletion syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | | | | 3 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | | | | 9 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | . | | | 6 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | . | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KIFBP CL E G H | 26128 | 23419 | ORPHA:66629 | Goldberg-Shprintzen megacolon syndrome | HP:0040283 - Occasional | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 660 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040282 - Frequent | | | 93 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | | | | 21 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | . | | | 74 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | METTL5 CL E G H | 29081 | 25006 | OMIM:618665 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72 | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MID2 CL E G H | 11043 | 7096 | OMIM:300928 | MENTAL RETARDATION, X-LINKED 101; MRX101 | | | | 7 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040281 - Very frequent | | | 39 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NHS CL E G H | 4810 | 7820 | OMIM:302350 | Nance-Horan syndrome | . | | | 88 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | . | | | 55 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PAK3 CL E G H | 5063 | 8592 | OMIM:300558 | MENTAL RETARDATION, X-LINKED 30; MRX30 | | | | 27 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PHF6 CL E G H | 84295 | 18145 | OMIM:301900 | Borjeson-Forssman-Lehmann syndrome | . | | | 29 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | | | | 37 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | POLR1A CL E G H | 25885 | 17264 | OMIM:616462 | Acrofacial dysostosis, Cincinnati type | . | | | 8 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040282 - Frequent | | | 9 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93945 | X-linked intellectual disability, Porteous type | HP:0040282 - Frequent | | | 28 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93950 | X-linked intellectual disability, Sutherland-Haan type | HP:0040283 - Occasional | | | 28 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | . | | | 20 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:619420 | MARTSOLF SYNDROME 2; MARTS2 | | | | 90 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:614225 | Warburg micro syndrome 2 | . | | | 135 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RBMX CL E G H | 27316 | 9910 | OMIM:300238 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 | | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040283 - Occasional | | | 37 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | . | | | 124 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SET CL E G H | 6418 | 10760 | OMIM:618106 | Mental retardation, autosomal dominant 58 | . | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040281 - Very frequent | | | 53 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040282 - Frequent | | | 74 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040283 - Occasional | | | 255 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | | | | 12 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040281 - Very frequent | | | 12 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | | | | 40 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBX22 CL E G H | 50945 | 11600 | ORPHA:921 | Abruzzo-Erickson syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TBX22 CL E G H | 50945 | 11600 | OMIM:302905 | Charge-Like syndrome, X-linked | . | | | 28 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | . | | | 8 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:77258 | Trichorhinophalangeal syndrome type 1 and 3 | HP:0040281 - Very frequent | | | 171 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
HP:0000400 | HP:0000400 | Macrotia | 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:0000400 | HP:0000400 | Macrotia | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ZNF526 CL E G H | 116115 | 29415 | OMIM:619877 | | | | | 24 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |
HP:0000400 | HP:0000400 | Macrotia | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | . | | | 2 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000400 | HP:0002265 | Large fleshy ears | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |