Disorders Associated with OMIM Keyword Search for

Table S1. Human disorders with a median craniofacial component and associated genes. Disorders that were identified by a keyword search in OMIM.org for six keywords listed in Figure 7. The associated gene(s) are listed with their corresponding OMIM number. Multiple genes were identified for some disorders.

Disorders Associated with OMIM Keyword Search for Craniofacial Defects Disease OMIM Number

Disease Name

100300 100800 101400

ADAMS-OLIVER SYNDROME 1 ACHONDROPLASIA SAETHRE-CHOTZEN SYNDROME

101600

PFEIFFER SYNDROME

105650

106600 108300 108720

DIAMOND-BLACKFAN ANEMIA 1 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE TOOTH AGENESIS, SELECTIVE, 1 STICKLER SYNDROME, TYPE 1 ATELOSTEOGENESIS, TYPE 1

109400

BASAL CELL NEVUS SYNDROME

113620 114290 114300 117000 117650 119300 119500 119540 119600

122470

BRANCHIOOCULOFACIAL SYNDROME CAMPOMELIC DYSPLASIA ARTHROGRYPOSIS, DISTAL, TYPE 3 CENTRAL CORE DISEASE OF MUSCLE CEREBROCOSTOMANDIBULAR SYNDROME VAN DER WOUDE SYNDROME 1 POPLITEAL PTERYGIUM SYNDROME CLEFT PALATE, ISOLATED CLEIDOCRANIAL DYSPLASIA COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION CORNELIA DE LANGE SYNDROME 1

123150

JACKSON-WEISS SYNDROME

123500

CROUZAN SYNDROME

124500 129400

VOHWINKEL SYNDROME RAPP-HODGKIN SYNDROME EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES

106260

120433

130070 130650

BECKWITH-WIEDEMANN SYNDROME

Associated Gene

Gene OMIM Number

ARHGAP31 FGFR3 TWIST1 FGFR1 FGFR2 RPS19

610911 134934 601622 136350 176943 603474

TP63

603273

MSX1 COL2A1 FLNB PTCH1 PTCH2 SUFU TFAP2A SOX9 PIEZO2 RYR1 SNRPB IRF6 IRF6 UBB RUNX2

142983 120140 603381 601309 603673 607035 107580 608160 613629 180901 182282 607199 607199 191339 600211

YAP1

606608

NIPBL

608667

FGFR1

136350

FGFR2

176943

FGFR2

176943

GJB2 TP63

121011 603273

B4GALT7

604327

CDKN1C ICR1 H19

600856 616186 103280

135900

COFFIN-SIRIS SYNDROME 1

136760

FRONTONASAL DYSPLASIA 1

154400 154500 154780 156400 156550 156610 157170 161200 162100

GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE MYHRE SYNDROME HOLOPROSENCEPHALY 3 HOLOPROSENCEPHALY 4 OPITZ GBBB SYNDROME, TYPE 2 HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE PALLISTER-HALL SYNDROME KABUKI SYNDROME 1 WAARDENBURG SYNDROME, TYPE 3 LARSEN SYNDROME LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS INCLUDED ACROFACIAL DYSTOSIS 1, NAGER TYPE TREACHER COLLINS SYNDROME MARSHALL SYNDROME METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE KNIEST DYSPLASIA SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL 1 HOLOPROSENCEPHALY 2 NAIL-PATELLA SYNDROME AMYOTROPHY, HEREDITARY NEURALGIC

163200

SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME

164200 168500 170390 174300 180200 182212 182290 183900 184250

OCULODENTODIGITAL DYSPLASIA PARIETAL FORAMINA 1 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS OROFACIODIGITAL SYNDROME 5 RETINOBLASTOMA SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME SMITH-MAGENIS SYNDROME SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT DIGEORGE SYNDROME VELOCARDIOFACIAL SYNDROME VITREORETINAL DEGENERATION, SNOWFLAKE TYPE WAARDENBURG SYNDROME, TYPE 1

137215 139210 142945 142946 145410 146110 146255 146510 147920 148820 150250 151050 153400

184840 188400 192430 193230 193500

KCNQ10T1 ARID1B ALX3 KIF3A

604115 614556 606014 604683

CDH1

192090

SMAD4 SHH TGIF1 SPECC1L

600993 600725 602630 614140

GNRHR

138850

GATA3

131320

GLI3 KMT2D PAX3 FLNB PTDSS1

165240 602113 606597 603381 612792

FOXC2

602402

SF3B4 TCOF1 COL11A1 PTHR1 COL2A1 TUBB SIX3 LMX1B SEPT9 NRAS HRAS KRAS GJA1 MSX2 KCNJ2 DDX59 RB1 SKI RAI COL2A1 COL2A1

605593 606847 120280 168468 120140 191130 603714 602575 604061 164790 190020 190070 121014 123101 600681 615464 614041 164780 607642 120140 120140

COL11A2

120290

TBX1 TBX1 KCN13 PAX3

602054 602054 602308 606597

193700 194080 202650 206900 206920

ARTHROGRYPOSIS, DISTAL, TYPE 2A DENYS-DRASH SYNDROME AGNATHIA-OTOCEPHALY COMPLEX MICROPHTHALMIA, SYNDROMIC 3 MICROPHTHALMIA WITH LIMB ANOMALIES

208150

FETAL AKINESIA DEFORMATION SEQUENCE

209885 211750 212780

214300

BARBER-SAY SYNDROME C SYNDROME CENANI-LENZ SYNDACTYLY SYNDROME CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE

214800

CHARGE SYNDROME

215045

CHONDRODYSPLASIA, BLOMSTRAND TYPE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE

213980

215150 216360

COACH SYNDROME

217095 219000 220111 220210

CONOTRUNCAL ANOMALY FACE SYNDROME FRASER SYNDROME 1 LEIGH SYNDROME, FRENCH CANANDIAN TYPE RITSCHER-SCHINZEL SYNDROME DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT INCLUDED CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME SPLIT-HAND/FOOT MALFORMATION 6 ELLIS-VAN CREVELD SYNDROME SPLIT-HAND/FOOT MALFORMATION 6 PROLIERATIVE VASCULOPATHY AND HYDRANENCEPHALYHYDROCEPHALY SYNDROME OROFACIAL DIGITAL SYNDROME 6 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, OLIGODACTYLY GAPO SYNDROME MOWAT-WILSON SYNDROME HOLOPROSENCEPHALY 1 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)METHYLENETERAHYDROFOLATE REDUCTASE ACTIVITY MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A1 HYDROLETHALUS SYNDROME 1 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 HYPOTHALAMIC HAMARTOMAS HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY

222600 225060 225300 225500 225300 225790 227170 228930 230740 235730 236100 236250 236670 236680 239300 241800 241850

MYH3 WT1 PRRX1 SOX2 SMOC1 RAPSN DOK7 MUSK TWIST2 CD96 LRP4

160720 607102 167420 184429 608488 601592 610285 601296 607556 606037 604270

TMCO1

614123

MEOX1 SEMA3E CHD7 PTH1R

600147 608166 608892 168468

COL11A2

120290

TMEM67 CC2D2A RPGRIP1L TBX1 FRAS1 LRPPRC WSHC5

609884 612013 610937 602054 607830 607544 610657

SLC26A2

606718

NECTIN1 WNT10B EVC EVC2 FLVCR2

600644 601906 604831 607261 610865

C5ORF42

614571

WNT7A

601570

ANTXR1 ZEB2 GAS1

606410 605802 139185

MTHFR

607093

POMT1

607423

HYLS1

610693

PIGV

610274

GLI3 FOXE1

165240 602617

HAIR AND CLEFT PALATE 242840 243310 243605 244200 245150 245600 248390 248500 248700 249000 253250 255320 255995 256030 256050 256520 257300 257920 258860 259100 259775 260660 261540 262500 263520 263650 263750 265000 265050 266280 266920 267000 268300 268310 268305 268400 269000 270400 270420

VICI SYNDROME BARAITSER-WINTER SYNDROME 1 STROMME SYNDROME HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA KEUTEL SYNDROME MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS TREACHER COLLINS SYNDROME 3 MANNISOIDOSIS, ALPHA B, LYSOSOMAL MARDEN-WALKER SYNDROME MECKEL SYNDROME MULIBREY NANISM MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA NATIVE AMERICAN MYOPATHY NEMALINE MYOPATHY 2 ATELOSTEOGENESIS, TYPE 2 NEU-LAXOVA SYNDROME 1 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 3MC SYNDROME 1 OROFACIAL DIGITAL SYNDROM 4 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1 RAINE SYNDROME COUSIN SYNDROME PETERS-PLUS SYNDROME LARON SYNDROME SHORT-RIB THORACIC DSYPLASIA 6 WITH OR WITHOUT POLYDACTYLY POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE POSTAXIAL ACROFACIAL DYSOSTOSIS MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT 3MC SYNDROME 2 RAPADILINO SYNDROME SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY PERLMAN SYNDROME ROBERTS SYNDROME ROBINOW SYNDROME, AUTOSOMAL RECESSIVE ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES ROTHMUND-THOMSON SYNDROME SC PHOCOMELIA SYNDROME SMITH-LEMLI-OPTIZ SYNDROME DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES

EPG5 ACTB CENPF

615086 102630 600236

PROKR2

607123

MGP

154870

B3GAT3

606374

POLR1C MAN2B1 PIEZO2 MKS1 TRIM37 RYR1 STAC3 NEB SLC26A2 PHGDH BUB1B MASP1 TCTN3

610060 609458 613629 609883 605073 180901 615521 161650 606718 606879 602860 600521 613847

HPGD

601688

FAM20C TBX15 B3GLCT GHR

611061 604127 610308 600946

NEK1

604588

RIPK4 DHODH CHRNG COLEC11 RECQL4

605706 126064 100730 612502 603780

IFT140

614620

DIS3L2 ESCO2 ROR2

614184 609353 602337

EIF4A3

608546

RECQL4 ESCO2 DCHR7

603780 609353 602858

SPINT2

605124

271640 272430 272440 272460 273395 276820 276950 277450 280000 300000 300004 300166 300209 300215 300244 300263 300321 300373 300590 300749 300804 300867 300868 300882 300946 300958 300960 302905 303400 304110 304120 305600 305620 307000 308205 308700 309350 309500

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES COLD-INDUCED SWEATING SYNDROME FILIPPI SYNDROME SPONDYLCARPOTARSAL SYNOSTOSIS SYNDROME TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE; TETAMS ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY VACTERL ASSOCIATION WITH HYDROCEPHALUS VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME OPITZ GBBB SYNDROME, TYPE I CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA MICROPHTHALMIA, SYNDROMIC 2 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 LISSENCEPHALY, X-LINKED, 2 TERMINAL OSSEOUS DYSPLASIA SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME FG SYNDROME 2 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS CORNELIA DE LANGE SYNDROME 2 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA JOUBERT SYNDROME 10 KABUKI SYNDROME 2 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 CORNELIA DE LANGE SYNDROME 5 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS MENTAL RETARDATION, X-LINKED 102 MEND SYNDROME ABRUZZO-ERICKSON SYNDROME CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED CRANIOFRONTONASAL SYNDROME OTOPALATODIGITAL SYNDROME, TYPE II FOCAL DERMAL HYPOPLASIA FRONTOMETAPHYSEAL DYSPLASIA 1 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA MELNICK-NEEDLES SYNDROME RENPENNING SYNDROME 1

B3GALT6

615291

CRLF1 CKAP2L FLNB WNT3

604237 616174 603381 165330

WNT7A

601570

PTEN

601728

GGCX

137167

PIGL

605947

MID1

300552

ARX

300382

BCOR OFD1 ARX FLNA PHF8 FLNA AMER1 SMC1A

300485 300170 300382 300017 300560 300017 300647 300040

CASK

300172

OFD1 KMD6A

300170 300128

PIGA

311770

HDAC8

300269

TSR2

300945

DDDX3X EBP TBX22 TBX22 EFNB1 FLNA PORCN FLNA

300160 300205 300307 300307 300035 300017 300651 300017

L1CAM

308840

MBTPS2

300294

ANOS1

300836

FLNA PQBP1

300017 300463

309520

400044 600251 600625 600920 601186 601492

LUJAN-FRYNS SYNDROME MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, XLINKED, 1 MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDERROBINSON TYPE OROFACIODIGITAL SYNDROME I; OFD1 OTOPALATODIGITAL SYNDROME, TYPE I TARP SYNDROME SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 46,XY SEX REVERSAL 1 FACIAL CLEFTING, OBLIQUE, 1 OROFACIAL CLEFT 11 VAN DEN ENDE-GUPTA SYNDROME MICROPHTHALMIA, SYNDROMIC 9 MUCOPOLYSACCHARIDOSIS, TYPE 9

601680

ARTHROGRYPOSIS, DISTAL

309580 309583 311200 311300 311900 312870 314390

601776 602081 602361 602483 602849 603194 603543 603546 603671 604232 604292 604841 605039 605282 605289 606164 606170 606713 607313 607330 607371 607812 607932

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 SPEECH-LANGUAGE DISORDER 1 GRACILE BONE DYSPLASIA AURICULOCONDYLAR SYNDROME 1 MUENKE SYNDROME MECKEL SYNDROME, TYPE 2 LIMB-MAMMARY SYNDROME SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 ACROMELIC FRONTONASAL DYSOSTOSIS LEBER CONGENITAL AMAUROSIS 3 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 STICKLER SYNDROME, TYPE II BOHRING-OPITZ SYNDROME TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME SPLIT-HAND/FOOT MALFORMATION 4 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS GENITOPATELLAR SYNDROME VAN DER WOUDE SYNDROME 2 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1 LATHOSTEROLOSIS DYSTONIA, JUVENILE-ONSET CRANIOLENTICULOSUTURAL DYSPLASIA MICROPHTHALMIA, SYNDROMIC 6

MED12

300188

ATRX

300032

SMS

300105

OFD1 FLNA RBM10 GPC3

300170 300017 300080 300037

ZIC3

300265

SRY SPECC1L BMP4 SCARF2 STRA6 HYAL1 MYH3 TPM2 TNNI2 TNNT3

480000 614140 112262 613619 610745 607071 160720 190990 191043 600692

CHST14

608429

FOXP2 FAM111A GNAI3 FGFR3 TMEM216 TP63

605317 615292 139370 134934 613277 603273

KIF22

603213

ZSWIM6 SPATA7

615951 609868

TP63

603273

COL11A1 ASXL1 CHSY1 TP63

120280 612990 608183 603273

RPS28

603685

KAT6B GRHL3

605880 608317

ROBO3

608630

SC5D ACTB SEC23A BMP4

602286 102630 610511 112262

608572 608864 608874 609192 609460 609597 609637 610125 610168 610443 610536 610628 610759 610828 610829 611263 611561 611881 612164 612284 612290 612313 612370 612527 612541 612561 612562 612563 612651 612702 613038 613091 613150 613192 613309 613451 613456 613705 613717 613805 613819

BURN-MCKEOWN SYNDROME OROFACIAL CLEFT 6, SUSCEPTIBILITY TO OROFACIAL CLEFT 5 LOEYS-DIETZ SYNDROME 1 GOLDBERG-SHPRINTZEN SYNDROME PARIETAL FORAMINA 2 HOLOPROSENCEPHALY 5 MICROPHTHALMIA, SYNDROMIC 5 LOEYS-DIETZ SYNDROME 2 KOOLEN-DE VRIES SYNDROME MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA CORNELIA DE LANGE SYNDROME 3 HOLOPROSENCEPHALY 7 HOLOPROSENCEPHALY 9 SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY MECKEL SYNDROME, TYPE 5 GLYCOGEN STORAGE DISEASE, XII EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 MECKEL SYNDROM, TYPE 6 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE GLASS SYNDROME HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA DIAMOND-BLACKFAN ANEMIA 4 NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE DIAMOND-BLACKFAN ANEMIA 6 DIAMOND-BLACKFAN ANEMIA 7 DIAMOND-BLACKFAN ANEMIA 8 ENDOCRINE-CEREBROOSTEODYSPLASIA HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA PITUITARY HORMONE DEFICIENCY, COMBINED, 1 SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 DIAMOND-BLACKFAN ANEMIA 10 FRONTONASAL DYSPLASIA 2 FRONTONASAL DYSPLASIA 3 OROFACIAL CLEFT 10 TREACHER COLLINS SYNDROME 2 MEIER-GORLIN SYNDROME 5 SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY

TXNL4A IRF6 MSX1 TGFBR1 KIAA1279 ALX4 ZIC2 OTX2 TGFBR2 KANSL1 EFTUD2

611595 607199 142983 190181 609367 605420 603073 600037 190182 612452 603892

PROK2

607002

SMC3 PTCH1 GLI2

606062 601309 165230

IFT80

611177

RPGRIP1L ALDOA STXBP1 CC2D2A HOXA2 SATB2

610397 103850 602926 612013 604685 608148

CHD7

608892

RPS17

180472

G6PC3

611045

RPL5 RPL11 RPS7 ICK

603634 604175 603658 612325

FGF8

600483

POU1F1

173110

DYNC2H1

603297

POMT2

607439

TRAPPC9 RPS26 ALX4 ALX1 SUMO1 POLR1D CDC6

611966 603701 605420 601527 601912 613715 602627

TTC21B

612014

613885 614069 614078 614091 614120 614207 614226 614261 614376 614399 614402 614583 614669 614732 614838 614880 614900 614921 614924 614974 615270 615271 615502 615503 615524 615582 615630 615633 615824 615948 616030 616038 616145 616268 616331

MECKEL SYNDROME, TYPE 8 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY HYDROLETHALUS SYNDROME 2 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 HOLOPROSENCEPHALY 11 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET MICROPHTHALMIA, SYNDROMIC 11 BARAITSER-WINTER SYNDROME 2 AURICULOCONDYLAR SYNDROME 2 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA DIAMOND-BLACKFAN ANEMIA 11 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 FOCAL FACIAL DERMAL DYSPLASIA 4 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY MICROPHTHALMIA, SYNDROMIC 12 LOEYS-DIETZ SYNDROME 5 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 OROFACIODIGITAL SYNDROME XIV HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA NEU-LAXOVA SYNDROME 2 CATEL-MANZKE SYNDROME MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

TCTN2

613846

ZBTB24

614064

IMPAD1

614010

WDR35

613602

KIF7

611254

PGAP2

615187

CDON

608707

STAMPBP

606247

WDR19

608151

MEGF10

612453

VAX1 ACTG1 PLCB4

604294 102560 600810

CDKN1C

600856

NSMF

608137

HS6ST1

605846

RPL26 PGM1 EARS2 CYP26C1

603704 171900 612799 608428

FGF17

603725

FLRT3

604808

CTCF

604167

WDR60

516462

RARB TGFB3

180220 190230

IFT172

607386

WDR34

613363

RPS7 C2CD3

603658 615944

FEZF1

613301

PSAT1 TGDS KAT6A DVL1

610936 616146 601408 601365

616367 616449 616462 616546 616570 616728 616734 616784 616788 616789 616835 616920 616897 617667

MANDIBULOFACIAL DYSTOSIS WITH ALOPECIA BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY CEREBROOCULOFACIOSKELETAL SYNDROME 3 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL 2 JOUBERT SYNDROME 26 OROFACIAL CLEFT 15 MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS MEIER-GORLIN SYNDROME 6 HEART AND BRAIN MALFORMATION SYNDROME OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENSBARNES-GISTELINCK TYPE FRASER SYNDROME 3

EDNRA MED25 POLR1A KIAA0196 ERCC5

131243 610197 616404 610657 1333530

KDM1A

609132

MAPRE2 KIAA0556 DLX4

605789 616650 601911

MED13L

608771

GMNN SMG9

602842 613176

TAPT1

612758

GRIP1

604597