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Gene: Frem1 MGI:2670972

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

Fras1 related extracellular matrix protein 1

Synonyms:

crf11, heb, QBRICK, eyes2, eye^m02Jus

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Frem1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Frem1 (6 diseases)
Human diseases predicted to be associated with Frem1 (2102 diseases)

The table below shows human diseases associated to Frem1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Trigonocephaly 2	Trigonocephaly, Depressed nasal bridge, Wide nasal bridge, Metopic synostosis	OMIM:614485
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla...	ORPHA:2717
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobo...	OMIM:248450
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis, Bulbous nose, Brachycephaly, Anteriorly placed anus, R...	OMIM:608980
Non-Syndromic Metopic Craniosynostosis	Trigonocephaly, Wide nasal bridge	ORPHA:3366
Bnar Syndrome	Anteriorly placed anus, Anal stenosis, Renal agenesis	ORPHA:217266

The table below shows human diseases predicted to be associated to Frem1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Craniosynostosis, Philadelphia Type	Long palpebral fissure, Finger syndactyly, Craniosynostosis	ORPHA:1527
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Trigonocephaly 2	Trigonocephaly, Depressed nasal bridge, Wide nasal bridge, Metopic synostosis	OMIM:614485
Aurocephalosyndactyly	Short columella, Craniosynostosis	OMIM:109050
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Potocki-Shaffer syndrome	Parietal foramina, Delayed cranial suture closure	DECIPHER:34
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Craniosynostosis 7	Craniosynostosis	OMIM:617439
Craniosynostosis 5, Susceptibility To	Craniosynostosis	OMIM:615529
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Craniosynostosis 3	Hallux valgus, Ptosis, Single transverse palmar crease, Sagittal craniosynostosis, Left unicorona...	OMIM:615314
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla...	ORPHA:2717
Summitt Syndrome	Syndactyly, Oxycephaly, Craniosynostosis	OMIM:272350
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Median cleft lip, Aplasia/Hypoplasia of the d...	ORPHA:1234
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Craniosynostosis 1	Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,...	OMIM:167730
Frontofacionasal Dysplasia	Depressed nasal ridge, Brachycephaly, Microcornea, Limbal dermoid, Iris coloboma, Depressed nasal...	ORPHA:1791
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Depressed nasal bri...	OMIM:619736
Adenylosuccinate Lyase Deficiency	Prominent metopic ridge, Flat occiput, Anteverted nares, Brachycephaly, Short nose	ORPHA:46
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Col...	OMIM:615877
Kleeblattschaedel	Cloverleaf skull, Elbow ankylosis, Craniosynostosis	OMIM:148800
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Symphalangism, Distal	Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr...	OMIM:185700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Acrofrontofacionasal Dysostosis	Ptosis, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfi...	ORPHA:1784
Potocki-Shaffer Syndrome	Turricephaly, 2-5 finger cutaneous syndactyly, Epicanthus, Single transverse palmar crease, Telec...	OMIM:601224
Bartsocas-Papas Syndrome 1	Ectopic kidney, Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Flexion contr...	OMIM:263650
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobo...	OMIM:248450
Hydrocephalus, Autosomal Dominant	Sagittal craniosynostosis	OMIM:123155
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas...	OMIM:617666
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft pala...	OMIM:615524
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Craniosynostosis, Highly arched eyebrow, Broad nasal tip...	OMIM:619451
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Hypospadias, Broad hall...	OMIM:175700
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Frontal bossing, Telecanthus, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Unilate...	ORPHA:1064
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Craniosynostosis-Mental Retardation-Clefting Syndrome	Convex nasal ridge, Craniosynostosis, Forearm undergrowth, Lower limb undergrowth, Chorioretinal ...	OMIM:218650
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Plantar pits, Palmoplantar keratoderma, Skin vesicl...	ORPHA:218
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Ablepharon, Camptodactyly of finger, Redunda...	ORPHA:920
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Unilateral renal agenesis, Micrognathia, Prominent nasal ...	OMIM:608572
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydacty...	ORPHA:2935
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Epicanthus, Wide nose, Camptodactyly of finger, Crani...	ORPHA:3210
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion	OMIM:612247
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly	OMIM:263450
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Bowing of the long b...	ORPHA:171839
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Abnormality of th...	ORPHA:79145
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Telecanthus, Craniosyno...	ORPHA:380
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Conjunctivitis, Blepharitis	ORPHA:254478
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Wahab Syndrome	Short palm, Syndactyly, Short metacarpal, Ankylosis, Short thumb, Short foot, Camptodactyly, Clin...	OMIM:615170
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f...	ORPHA:93406
Trigonocephaly 1	Epicanthus, Craniosynostosis, High, narrow palate, Synophrys, Long penis, Wide nasal bridge, Upsl...	OMIM:190440
17Q21.31 Microduplication Syndrome	Epicanthus, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Synophrys, High palate, C...	ORPHA:217340
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Delayed Membranous Cranial Ossification	Frontal bossing, Depressed nasal ridge, Prominent occiput, Decreased skull ossification, Midface ...	ORPHA:3034
Frontonasal Dysplasia 1	Ptosis, Epicanthus, Cataract, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid...	OMIM:136760
Trigonocephaly With Short Stature And Developmental Delay	Sagittal craniosynostosis, Wide nasal bridge, Premature posterior fontanelle closure, Small anter...	OMIM:314320
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Malformed lacrimal duct, Cutaneous finger syndac...	OMIM:219000
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Intellectual Developmental Disorder, X-Linked 91	Epicanthus, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly, ...	OMIM:300577
Brittle Cornea Syndrome 1	Joint laxity, Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea ...	OMIM:229200
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Eyelid coloboma, Downslanted...	OMIM:268850
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Depressed nasal bridge, Unilateral renal agenesis, ...	OMIM:618142
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Lowe...	OMIM:616462
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Wide nasal bridge, Premature posterior fontanelle closure, Multiple suture craniosynostosis, Meto...	ORPHA:3369
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding,...	ORPHA:424019
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Anteverted nares, Unilateral r...	OMIM:616362
Frontofacionasal Dysplasia	Telecanthus, Cataract, Underdeveloped nasal alae, Cleft upper lip, Short nose, Brachycephaly, Ank...	OMIM:229400
Cranioectodermal Dysplasia	Frontal bossing, Finger syndactyly, Brachydactyly, Rhizomelia, Epicanthus, Craniosynostosis, Abno...	ORPHA:1515
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Frontal bossing, Orbital craniosynostosis, Dolichocephaly	ORPHA:1538
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Joint stiffne...	ORPHA:245
Craniofrontonasal Dysplasia	Frontal bossing, Finger syndactyly, Broad hallux phalanx, Hypospadias, Camptodactyly of finger, C...	ORPHA:1520
Ring Chromosome 8 Syndrome	Frontal bossing, Epicanthus, Anteverted nares, Abnormality of the ureter, Deviation of finger, Sh...	ORPHA:1450
Familial Benign Chronic Pemphigus	Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion	ORPHA:2841
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Epicanthus, Joint hyperflexibility, Clinodactyly of the 5th finger, Downslante...	ORPHA:238446
2Q24 Microdeletion Syndrome	Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplanta...	ORPHA:64745
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Skin vesicle...	ORPHA:79410
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Micrognathia, Brachycephaly, Joint hyperflexibility, Abn...	ORPHA:1695
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Wide nose, Convex nasal ridge, Micrognathia, Shor...	OMIM:617667
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Cutaneous syndactyly, Camptodactyly	OMIM:607539
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hy...	ORPHA:2470
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma, Orbital cyst	OMIM:251505
Abruzzo-Erickson Syndrome	Epicanthus, Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of...	ORPHA:921
Microtriplication 11Q24.1	Joint dislocation, Keratoconus, Wide nose, Metatarsus adductus, Synophrys, Limitation of joint mo...	ORPHA:289522
Anophthalmia Plus Syndrome	Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ...	ORPHA:1104
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Craniosynostosis	ORPHA:2866
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the hallux, Single transverse palmar creas...	OMIM:609432
Neu-Laxova Syndrome 2	Finger syndactyly, Ablepharon, Toe syndactyly, Cataract, Rocker bottom foot, Micrognathia, Depres...	OMIM:616038
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Epicanthus, Single transverse palmar crease, Craniosynostosis, Ble...	OMIM:613174
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Epicanthus, Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Wide nasa...	ORPHA:1516
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Coloboma, Vesicoureteral reflux, Hypospadias, Broad hallux, Tapered finger, Short t...	OMIM:618659
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Rectal prolapse, Short metatarsal, Brachycephaly, High palate, Gastroesophag...	OMIM:617157
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Hunter-Mcalpine Craniosynostosis Syndrome	Craniosynostosis	OMIM:601379
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Metopic synostosis, Trigonocephaly, Short nose	OMIM:300581
Acrocephalopolydactyly	Epicanthus, Genu recurvatum, Oxycephaly, Abnormal renal morphology, Depressed nasal ridge, Short ...	ORPHA:221054
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick lower lip vermilion, Dental maloccl...	OMIM:157980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Camptodactyly of fi...	OMIM:619951
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinod...	ORPHA:3268
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Epicanthus, Unilateral renal agenesis, Broad nasal tip, Synophrys, Brachycephaly...	ORPHA:3306
Lowry-Maclean Syndrome	Convex nasal ridge, Craniosynostosis	OMIM:600252
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Unilateral renal agenesis, Almond-shaped palpebral fissure, Flared nost...	OMIM:619504
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Brachycephaly, Upper eyelid ...	ORPHA:2095
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Hypoplasia of eyelid, Redundant skin, Ablepharo...	OMIM:200110
Autosomal Recessive Omodysplasia	Frontal bossing, Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Craniosynostosi...	ORPHA:93329
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Conical incisor, Cutaneous finger syndactyly, Protein-losing ent...	OMIM:235510
Muenke Syndrome	Ptosis, Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, C...	OMIM:602849
Terminal Osseous Dysplasia	Multiple joint contractures, Abnormal hand bone ossification, Camptodactyly of toe, Iris coloboma...	OMIM:300244
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Brachycephaly, Oligosacchariduria, High palate, Abnormal bone ossification, Abnorma...	ORPHA:163649
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Anteverted nares, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull as...	OMIM:601853
Carpenter Syndrome	Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ...	ORPHA:65759
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Horseshoe kidney, Increase...	OMIM:613630
Hypophosphatasia, Childhood	Frontal bossing, Elevated urine pyrophosphate, Craniosynostosis, Bowing of the legs, Phosphoethan...	OMIM:241510
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Cleft up...	OMIM:244600
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Congenital localized absence of skin, Skin ulcer, Abnormality ...	ORPHA:1114
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Telecanthus, Unilateral renal agenesis	OMIM:206750
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Telecanthus, Broad proximal phalanges of the hand, Choanal atresia, Cleft upper ...	OMIM:607597
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro...	ORPHA:2409
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Wide nasal...	OMIM:618577
Sweeney-Cox Syndrome	Flat occiput, Micrognathia, Brachycephaly, High palate, Gastroesophageal reflux, 2-5 toe syndacty...	OMIM:617746
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Rhiny	Short nose, Anteverted nares	OMIM:180360
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Anteverted nares, Redundant skin, Bulbous nos...	ORPHA:1231
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening ...	OMIM:101600
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule	ORPHA:90000
Hartsfield Syndrome	Telecanthus, Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft p...	ORPHA:2117
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Sclerocornea, Large fontanelles, Camptoda...	ORPHA:251038
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Cataract, Renal agenesis, Upper lip pit, Broad nasal tip, Preaxial ...	ORPHA:1297
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow, Split hand, 2-3 f...	OMIM:225280
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Highly arched eyebrow,...	OMIM:239300
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha...	OMIM:604757
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Bilateral ptosis, Plagiocephaly, Pansyn...	OMIM:180750
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ...	OMIM:615990
Pierpont Syndrome	Telecanthus, Wide nose, Blepharophimosis, Broad nasal tip, Short toe, Unilateral narrow palpebral...	OMIM:602342
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Skin vesicle, Sparse eyelashes, Follicular hyperkeratosis	OMIM:613102
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arc...	ORPHA:178303
Treacher Collins Syndrome 4	Micrognathia, Lower eyelid coloboma, Cleft palate, Choanal stenosis, Downslanted palpebral fissures	OMIM:618939
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Hypoplasia of th...	ORPHA:2673
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,...	OMIM:616602
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose	OMIM:125700
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Oculoauriculofrontonasal Syndrome	Wide nose, Underdeveloped nasal alae, Micrognathia, Bifid nasal tip, Upper eyelid coloboma, Cleft...	ORPHA:398156
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypoplasia of the maxilla, Br...	ORPHA:207
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Pyloric sten...	ORPHA:314575
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Abnormality of the upper urinary tract, Craniosynostosis, Abnorm...	ORPHA:2145
Arthrogryposis, Distal, Type 5	Keratoconus, Epicanthus, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Bleph...	OMIM:108145
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Dermal atrophy, Skin vesicle, Papule, Ptosis	ORPHA:257
14Q11.2 Microdeletion Syndrome	Epicanthus, Toe syndactyly, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, High pal...	ORPHA:261120
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,...	OMIM:614078
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurre...	ORPHA:83
Dermatitis, Atopic	Keratoconus, Cataract, Allergic rhinitis, Facial erythema, Conjunctivitis, Pallor, Dry skin	OMIM:603165
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach...	OMIM:201000
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Anteverted nares, Aganglionic me...	ORPHA:3339
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick upper lip vermilion, Thick lower li...	ORPHA:2563
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Urethral atresia, Malformed lacrimal duct, High palate, Cryp...	ORPHA:2052
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Frontal bossing, Microretrognathia, Palpebral edema, Craniosynostosis, Sca...	ORPHA:397612
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Jacobsen Syndrome	Ptosis, Epicanthus, Flat occiput, Hypospadias, Telecanthus, Anteverted nares, Micrognathia, Abnor...	OMIM:147791
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Highly arched eyebrow, Micrognathia, Hypoplasia of the tooth germ,...	ORPHA:293967
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Thickened calvaria, Single transv...	OMIM:303600
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Dermal translucency, Corneal opacity, Unilateral renal agenesis, Hip di...	OMIM:616603
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Synophrys, Brachycephaly, Microcornea, High palate, Scapular winging, Ante...	ORPHA:1327
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Frontal bossing, Osteoporosis, Joint hyperflexibility	ORPHA:2787
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Epicanthus, Hypospadias, Abnormality of the kidney, Unilatera...	ORPHA:363444
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones	ORPHA:2773
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Atypical scarring of skin, Stillbirth, Polydactyly, Abnormal h...	ORPHA:294975
Gapo Syndrome	Redundant skin, Micrognathia, High, narrow palate, Eruption failure, Megalocornea, Tubulointersti...	OMIM:230740
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen...	ORPHA:1834
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism, Renal agenesis	OMIM:219050
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Erythema migrans, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Long ...	OMIM:613680
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Epicanthus, Overhanging nasal tip, Overlapping toe, Unilateral renal ag...	OMIM:618494
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Jacobsen Syndrome	Microcornea, Eyelid coloboma, Long hallux, Iris coloboma, Broad columella, Abnormality of the anu...	ORPHA:2308
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Flat occiput, Hypospadias, Ep...	ORPHA:2211
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost...	OMIM:612961
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Pr...	ORPHA:401935
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Func...	ORPHA:96148
Craniosynostosis 4	Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me...	OMIM:600775
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Anisocoria, Clinodactyly of the 5th finger, Iris coloboma, Bifid uvula, Fi...	OMIM:181270
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Focal dermal aplasia/hypoplasia, Orbital cyst, Eyelid c...	OMIM:164180
Oculodentodigital Dysplasia, Autosomal Recessive	Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Microcornea, Persistent pupill...	OMIM:257850
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Cranioectodermal Dysplasia 4	Frontal bossing, Epicanthus, Anteverted nares, Sagittal craniosynostosis, Stage 5 chronic kidney ...	OMIM:614378
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Coloboma, Absent distal ...	OMIM:120400
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Choana...	OMIM:263750
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Wide nose, Corneal opacity, Cataract, Abnormal eyelash morpholog...	ORPHA:2399
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Thin calvarium, Short nose, Midface retrusion, Delayed cranial suture closure	ORPHA:1129
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Upper eyelid coloboma, Brachycephaly...	OMIM:613456
Pemphigus Foliaceus	Acantholysis, Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesi...	ORPHA:79481
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Single naris, Microcornea, Eyelid coloboma, Abnormali...	ORPHA:141099
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Congenital dia...	ORPHA:139466
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ptosis, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the...	ORPHA:1647
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Wide anterior fontanel, Small han...	OMIM:619339
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the...	OMIM:616367
17P13.3 Microduplication Syndrome	Frontal bossing, Hypoplasia of penis, Congenital hip dislocation, Wide nose, High palate, Clinoda...	ORPHA:217385
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Craniosynostosis, Abnormality ...	ORPHA:1553
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Abnor...	OMIM:601163
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple...	ORPHA:1166
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dyspla...	ORPHA:2370
Hao-Fountain Syndrome	Trigonocephaly, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Delayed epiphyseal ossification, Osteoarthritis, Midface retrusion	OMIM:618618
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Frontal bossing, Short fourth metatarsal, Short metacarpal, Overlapping toe, Ptosis, ...	OMIM:616723
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Ptosis, Brachydactyly, Flat occiput, Narrow nasal bridge, Abnormal thumb m...	ORPHA:2511
Dermatitis Herpetiformis	Macule, Skin vesicle, Erythema, Recurrent fractures	ORPHA:1656
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Ankle flexion contracture, Underdeveloped nasal alae, Erythema, Elbow f...	OMIM:618175
Congenital Diaphragmatic Hernia	Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia...	ORPHA:2140
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Micrognathia, Broad nasal tip, Brachycephaly, Long eyelashes, Horizont...	OMIM:609757
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Brachydactyly, Epicanthus, Lacrimal duct stenosis, P...	ORPHA:457193
Frontoocular Syndrome	Epicanthus, Prominent nasal bridge, Blepharophimosis, Micrognathia, Upslanted palpebral fissure, ...	OMIM:605321
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Pterygium, Finger synd...	OMIM:256520
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Vesicoureteral reflux, Micropenis, Hypospadias, Postaxial foot polydactyly, ...	OMIM:301056
Pyoderma Gangrenosum	Skin ulcer, Atrophic scars, Rheumatoid arthritis, Skin vesicle, Papule	ORPHA:48104
Muenke Syndrome	Tarsal synostosis, Hypermelanotic macule, Brachycephaly, Hypopigmented skin patches, Plagiocephal...	ORPHA:53271
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Broad hallux, Aganglionic megacolon, Broad nasal tip, ...	OMIM:614749
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Macular dystrophy, Rod-cone dystrophy, Brachydactyly	OMIM:615983
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Hooded eyelid, Redundant neck skin, Micr...	ORPHA:96170
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma	OMIM:611638
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Juvenile cataract, Depressed nasal bridge, Highly arched eyebrow, Short...	ORPHA:438178
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac...	OMIM:161200
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 to...	OMIM:609625
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, T...	ORPHA:969
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Hypospadias, Highly arched eyebrow, Tapered finger, Spars...	OMIM:616737
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Epicanthus, Hypospadias, Single transverse palmar creas...	OMIM:614541
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Frontal bossing, Epicanthus, Thin upper lip vermilion, Anteverted nares, Single transverse palmar...	OMIM:613604
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Microcornea, Heterochromia iridis, Iris coloboma, Promin...	ORPHA:2995
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Renal hypoplasia/aplasia, Micrognathia, Wide ...	ORPHA:2863
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Hypospadias, Prominent nasal bridge, Craniosynostosis, Absent...	ORPHA:96097
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Fo...	OMIM:154400
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Synophrys, Coloboma, Short palm, Clinodactyly of the 5th...	ORPHA:251014
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Hypospadias, Postaxial polydactyly, Micrognathia, Anteverte...	OMIM:615761
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Clark-Baraitser Syndrome	Thin upper lip vermilion, Epicanthus, Sandal gap, Anteverted nares, Depressed nasal bridge, Brach...	OMIM:617752
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Large fontanelles, Depressed nasal ridge, Short nose, Delayed cranial suture cl...	ORPHA:1832
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Midface retrusion	DECIPHER:52
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Epicanthus, Proteinuria, Sparse eyelashes, Sagittal craniosynostosis, Micrognathia, ...	OMIM:616901
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Unilateral renal agenesis, Upslanted palpebral fissure, Vesicoureteral ...	ORPHA:2512
Acro-Renal-Ocular Syndrome	Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral reflux, Iris c...	ORPHA:959
Emanuel Syndrome	Broad jaw, Recurrent urinary tract infections, Congenital hip dislocation, Intestinal malrotation...	OMIM:609029
Distal Duplication 18Q	Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia, Car...	ORPHA:1716
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist...	OMIM:614814
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Prognathism, Mandibular	Craniosynostosis	OMIM:176700
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Epicanthus, True hermaphroditis...	OMIM:194080
Teebi Hypertelorism Syndrome 1	Frontal bossing, Natal tooth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge,...	OMIM:145420
Cdags Syndrome	Frontal bossing, Ectropion, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Parietal fo...	OMIM:603116
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow pal...	OMIM:600920
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Synophrys, Brachycephaly, High palate, Gastroesophageal reflux, Promi...	OMIM:613792
Mesomelic Dysplasia, Nievergelt Type	Micromelia, Abnormal tibia morphology, Brachycephaly, Clinodactyly of the 5th finger, Abnormality...	ORPHA:2633
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Epicanthus, Unilateral renal agenesis, Highly arched ...	OMIM:617190
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Synostosis of carpal bones, Hypoplasia of the...	ORPHA:3258
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Renal agenesis, Anteverted nares, Broad...	OMIM:615583
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, S...	OMIM:611174
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Epicanthus, Anteverted nares, Depressed nasal bridge, Proximal placement of th...	ORPHA:1825
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Thick verm...	OMIM:618506
Gapo Syndrome	Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Keratoconus, Sparse eyelashes,...	ORPHA:2067
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Cranioectodermal Dysplasia 3	Joint laxity, Frontal bossing, Telecanthus, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Po...	OMIM:614099
8p23.1 deletion syndrome	Cryptorchidism, Congenital diaphragmatic hernia	DECIPHER:39
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormality of the orbital region...	ORPHA:251992
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, Dry skin, Aplasia cutis congenita of ...	OMIM:600906
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Micropenis, Anteverted n...	OMIM:608156
Acrocraniofacial Dysostosis	Micrognathia, Triphalangeal thumb, Advanced eruption of teeth, Anteverted nares, Tapered finger, ...	ORPHA:949
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, Eyelid...	ORPHA:861
Bardet-Biedl Syndrome 11	Retinopathy, Polydactyly	OMIM:615988
Branchioskeletogenital Syndrome	Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Synophrys, Brachycephaly,...	ORPHA:1299
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis	ORPHA:88643
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Frontal bossing, Rhizomelia, Depressed nasal bridge, Unilateral renal agenesis, Chronic kidney di...	OMIM:617661
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Short nose, Depressed nasal bridge, Craniosynostosis	OMIM:614732
3Mc Syndrome 2	Limited elbow movement, High palate, Caudal appendage, Prominence of the premaxilla, Hypospadias,...	OMIM:265050
Alagille Syndrome	Keratoconus, Frontal bossing, Hypoplasia of the ulna, Corneal dystrophy, Renal hypoplasia/aplasia...	ORPHA:52
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Depressed nasal bridge, Abnormality of the kidney, Sagittal craniosynostosis, Microgn...	ORPHA:459061
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Abnormal morphology of female internal genitalia, Pulmonary hypoplasia, Congenital d...	ORPHA:2141
15Q24 Microdeletion Syndrome	Joint laxity, Epicanthus, Hypospadias, Depressed nasal bridge, Proximal placement of thumb, Promi...	ORPHA:94065
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, D...	OMIM:243310
Rubinstein-Taybi Syndrome 2	Micrognathia, Prominent nose, High palate, Prominent fingertip pads, Syndactyly, Broad hallux, Hi...	OMIM:613684
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Synophrys, Brac...	OMIM:213980
Holoprosencephaly, Semilobar, With Craniosynostosis	Coronal craniosynostosis, Short distal phalanx of finger, Lambdoidal craniosynostosis, Coxa valga	OMIM:601370
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Knee flexion contracture, Hypoplasia of the iris, Thin lower lip vermilion, Wide nasal bridge, Re...	OMIM:619194
Craniosynostosis With Fibular Aplasia	Craniosynostosis	OMIM:218550
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Depressed nasal bridge, Micrognathia, Brachycephaly, Cleft palate, Promi...	OMIM:220210
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Enuresis nocturna, Posterior plagiocephaly, Eyel...	OMIM:615873
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, T...	OMIM:614583
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Brachycephaly, Upslanted palpebral fissure, Microcornea, High palate, Retro...	ORPHA:2528
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, ...	ORPHA:1895
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Monosomy 5P	Microretrognathia, Finger syndactyly, Epicanthus, Recurrent fractures, Small hand, Wide nasal bri...	ORPHA:281
Chung-Jansen Syndrome	Epicanthus, Thick eyebrow, Anteverted nares, Tapered finger, Micrognathia, Synophrys, Upslanted p...	OMIM:617991
Parenti-Mignot Neurodevelopmental Syndrome	Frontal bossing, Epicanthus, Prominent nasal bridge, Craniosynostosis, Micrognathia, Synophrys, U...	OMIM:619873
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Non-Syndromic Posterior Hypospadias	Omphalocele, Bifid scrotum, Congenital diaphragmatic hernia, Ventral shortening of foreskin, Cryp...	ORPHA:95706
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal ala...	ORPHA:306542
Myoectodermal Gonadal Dysgenesis Syndrome	Epicanthus, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of t...	OMIM:618419
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Coloboma, Up...	OMIM:616789
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Gastrointestinal dysmotility, Abnormal tongue morphology, Hip...	ORPHA:531151
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Brachy...	ORPHA:1790
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Intestinal malrotatio...	OMIM:601707
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Telecanthus, Arachnodactyly, ...	OMIM:615539
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Brachycephaly, Long eyelashes, Short nose, ...	ORPHA:1514
Proteus Syndrome	Depressed nasal bridge, Limbal dermoid, Mandibular hyperostosis, Dolichocephaly, Calvarial hypero...	OMIM:176920
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Frontal bossing, Short metacarpal, Brachydactyly, Metaphyseal dysplasia, Sparse eyelashes, Cranio...	OMIM:250410
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Sandal gap, Single transverse palmar crease, Redundant skin, Micrognath...	OMIM:613177
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Ker...	OMIM:123500
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphragmatic hernia, Un...	ORPHA:2260
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depress...	ORPHA:93258
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris colo...	OMIM:610023
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto...	OMIM:618736
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Anophthalmia, Pulmonary artery atresia, Congenital diaphragma...	OMIM:601186
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater...	OMIM:614900
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo...	OMIM:305620
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Dacryocystitis, Depressed nasal ridge, Renal hypoplasi...	ORPHA:464288
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Cataract, Flexion contracture, Hip dysplasia, Short nose, Midface retrusion	OMIM:618379
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Polydactyly	OMIM:615991
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Malabsorption	ORPHA:99811
Schisis Association	Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Cleft pa...	ORPHA:63862
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Concave nasal ridge, Dolichocephaly, Wormian bones, Pathologic frac...	ORPHA:166277
Familial Scaphocephaly Syndrome, Mcgillivray Type	Broad hallux phalanx, Toe syndactyly, Upslanted palpebral fissure, Dolichocephaly, Trigonocephaly...	ORPHA:168624
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Depressed nasal ridge, Brachycephaly, Broad columella,...	OMIM:613451
Tatton-Brown-Rahman Syndrome	Epicanthus, Everted upper lip vermilion, Anteverted nares, Sagittal craniosynostosis, Blepharophi...	OMIM:615879
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Frontal bossing, Recurrent urinary tract infections, Lacrimal duct stenosis, Palpebra...	ORPHA:221139
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Lacrimal duct aplasia, Cutaneous finger syndactyl...	DECIPHER:46
Iga Pemphigus	Acantholysis, Annular cutaneous lesion, Skin vesicle, Skin erosion, Skin plaque	ORPHA:555905
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Anteverted nares, Underdeveloped nasal alae, Brachycephaly, C...	OMIM:611961
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Biliary tr...	OMIM:175200
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Downslanted palpebral ...	ORPHA:195
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Corneal opacity, Camptodactyly of finger, Abnormal eyelid morpho...	ORPHA:1794
Fg Syndrome Type 1	Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint laxity, High pal...	ORPHA:93932
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Postaxial polydactyly, Unilateral renal agenesis, Esophageal varix, Dry skin, Hip dys...	OMIM:614576
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Gómez-López-Hernández Syndrome	Turricephaly, Telecanthus, Anteverted nares, Corneal opacity, Brachycephaly, Thin vermilion borde...	ORPHA:1532
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Epicanthus, Wide nose, Anteverted nares, Depressed nasal bridge, Sagitt...	OMIM:618027
Coach Syndrome 1	Anteverted nares, Unilateral renal agenesis, Multiple small medullary renal cysts, Postaxial hand...	OMIM:216360
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Flexion contracture, Abnor...	OMIM:263210
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Craniosynostosis, Keratitis, Scaphocephaly, Hip dislocation, Clubbing, Macroglossia,...	OMIM:618523
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Brachycephaly, Microc...	ORPHA:819
Trisomy 12P	Turricephaly, Epicanthus, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of th...	ORPHA:1699
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Arterial Tortuosity Syndrome	Redundant skin, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Keratoconus, ...	ORPHA:3342
Hennekam-Beemer Syndrome	Macule, Camptodactyly of finger, Subcutaneous nodule, Erythema, Upslanted palpebral fissure, Skin...	ORPHA:2135
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Coloboma, Eyelid coloboma...	OMIM:268300
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Frontal bossing, Epicanthus, Cataract, Broad hallux, Sing...	OMIM:614105
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Epicanthus, Cataract, Overlapping toe, Bulbous nose, Wide nas...	OMIM:618571
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Skin ulcer, Joint hyperflexibil...	ORPHA:2314
Codas Syndrome	Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Hydroureter, Epi...	ORPHA:1458
Isolated Growth Hormone Deficiency, Type Ia	Persistent open anterior fontanelle, Depressed nasal ridge	OMIM:262400
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Polydactyly	OMIM:615987
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus...	OMIM:601076
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, S...	OMIM:618828
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Anteverted nares, Recurrent fract...	OMIM:618188
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla...	OMIM:618774
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, Epicanthus, Prom...	OMIM:619880
Wells Syndrome	Skin vesicle	ORPHA:901
Au-Kline Syndrome	High palate, Gastroesophageal reflux, Shallow orbits, Clinodactyly of the 5th finger, Vesicourete...	OMIM:616580
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Micrognathia, Tracheoesophageal fistula, Eyelid coloboma, Foot polydactyly, Chori...	ORPHA:268249
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Epicanthus, Flat occiput, Overlapping toe, Telecanthus, Thick eyebrow, Antev...	OMIM:619383
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Frontal bossing, Increased bone mineral density, Cataract, Micrognathia, Microcornea, Coloboma, I...	OMIM:617306
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ...	OMIM:178110
Holoprosencephaly-Craniosynostosis Syndrome	Brachydactyly, Epicanthus, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Upslanted ...	ORPHA:2163
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Wide nose, Depres...	ORPHA:2831
Bladder Exstrophy And Epispadias Complex	Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly...	OMIM:600057
Aymé-Gripp Syndrome	Brachycephaly, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ri...	ORPHA:1272
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Abnormality of the elb...	ORPHA:2019
Vacterl/Vater Association	Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong...	ORPHA:887
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Epicanthus, Wide nose, Anteverted nares, Everted upper lip vermilion, Craniosynostosis, Downslant...	OMIM:619056
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Vesicoureteral reflux, Cleft palate, Plagiocephaly, Slender long ...	OMIM:618265
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Large fontanelles, Skin dimple, ...	ORPHA:436
Restrictive Dermopathy 2	Microretrognathia, Rectal prolapse, Overtubulated long bones, Gastroesophageal reflux, Short clav...	OMIM:619793
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Redundant skin, Generalized joint laxity, Functional abnormality of the...	ORPHA:2953
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal dig...	ORPHA:2363
Solitary Rectal Ulcer Syndrome	Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer	ORPHA:209964
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge	OMIM:155050
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Frontal bossing, Depressed nasal bridge, High, narrow palate, Rectal...	ORPHA:79076
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Single transverse palmar crease, 3-5 toe syndactyly, Clinodactyly of the 5th finger, Vesicoureter...	OMIM:300707
Retinitis Pigmentosa	Keratoconus, Hypoplasia of penis, Cataract, Anteverted nares, Wide nasal bridge	ORPHA:791
Cornelia De Lange Syndrome 2	Ptosis, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of...	OMIM:300590
Perlman Syndrome	Hypoplasia of penis, Epicanthus, Bilateral single transverse palmar creases, Anteverted nares, Mi...	ORPHA:2849
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Bifid nasal tip,...	OMIM:616854
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Recurrent respiratory infections, Median cleft palate, Hepatomegaly	ORPHA:2432
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of...	OMIM:101400
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Bicornuate ute...	ORPHA:2143
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal brid...	OMIM:614744
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Ovotesti...	OMIM:611812
Congenital Disorder Of Glycosylation, Type Iin	Osteopenia, Astigmatism, Joint hypermobility, Craniosynostosis	OMIM:616721
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Chromosome 19Q13.11 Deletion Syndrome, Distal	Overlapping toe, Hypospadias, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Micrognathia, C...	OMIM:613026
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Brachycephaly, Coxa vara, Gastroesophageal reflux, Cl...	OMIM:614701
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Epicanthus, Depressed nasal bridge, Wide nasal bridge, Microcor...	OMIM:600268
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Biparietal narrowing, Ca...	ORPHA:261337
Braddock Syndrome	Epicanthus, Unilateral renal agenesis, Micrognathia, Preaxial hand polydactyly, Blepharophimosis	ORPHA:52047
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenesis, Telecanthus, Ectop...	ORPHA:140952
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Enuresis, Short nose, Retrognathia, Downslanted palpebral fissures	OMIM:613670
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Costello Syndrome	Keratoconus, Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology, Redundant ski...	ORPHA:3071
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a...	OMIM:618845
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly placed anus, ...	ORPHA:95699
3Mc Syndrome 1	Conjunctival telangiectasia, Synophrys, Coronal craniosynostosis, Clinodactyly of the 5th finger,...	OMIM:257920
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteo...	ORPHA:88630
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Craniosynostosis	OMIM:201550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Knee flex...	ORPHA:468631
White-Kernohan Syndrome	Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Gastroesopha...	OMIM:619426
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Microphthalmia, Congenital diaphragmatic hernia	OMIM:300887
Cree Mental Retardation Syndrome	Hypospadias, Rocker bottom foot, Cleft soft palate, Micrognathia, Large fontanelles, Brachycephal...	OMIM:606851
Laurence-Moon Syndrome	Finger syndactyly, Renal insufficiency, Hypoplasia of penis, Brachydactyly, Epicanthus, Cataract,...	ORPHA:2377
Fetal Trimethadione Syndrome	Ptosis, Epicanthus, Hypospadias, Depressed nasal bridge, Micrognathia, Synophrys, Brachycephaly, ...	ORPHA:1913
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:614500
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Elbo...	ORPHA:2557
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Epicanthus, Hypospadias, Sandal gap, Cr...	ORPHA:254346
Cole-Carpenter Syndrome 2	Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Microretrognathia, Recurrent fra...	OMIM:616294
Tetrasomy 12P	Delayed eruption of teeth, Frontal bossing, Telecanthus, Thin upper lip vermilion, Anteverted nar...	ORPHA:884
15q26 overgrowth syndrome	Mandibular prognathia, Micrognathia, Prominent nose, Abnormal finger morphology, High palate, Ves...	DECIPHER:81
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Flexion contracture, Brachycephaly, Microp...	OMIM:616897
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Short palm, Clinodac...	ORPHA:915
Tonne-Kalscheuer Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insufficiency, Pulmo...	OMIM:300978
Craniofrontonasal Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Joint laxity, Hypospadias, Broad hallux, Cleft upp...	OMIM:304110
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Epicanthus, Depressed nasal bridge, Abnormality of the hand, B...	ORPHA:369891
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Tented upper lip vermilion, Thin upper lip vermilion, Prominent n...	ORPHA:313781
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Hypospad...	ORPHA:487796
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Triphalangeal thumb, Clinodactyly of the 5th finger, Bi...	ORPHA:794
Harel-Yoon Syndrome	Mandibular prognathia, Frontal bossing, Corneal opacity, Micrognathia, Developmental cataract, Up...	OMIM:617183
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Frontal bossing, Wide nose, Recurrent fractures, Craniosynostosis, Joint hypermobility	OMIM:147060
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Cerebrooculonasal Syndrome	Frontal bossing, Epicanthus, Sparse eyelashes, Anteverted nares, Proboscis, Craniosynostosis, Pos...	OMIM:605627
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Micrognathia, Brachycephaly, High palate, Hypospadias, Abnormal ...	ORPHA:96121
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Frontal bossing, Short metacarpal, Absent eyebrow, Craniosynostosis, Micrognathia,...	ORPHA:166035
Coffin-Siris Syndrome 6	Frontal bossing, Epicanthus, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow ...	OMIM:617808
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Lessel-Kreienkamp Syndrome	Frontal bossing, Wide cranial sutures, Epicanthus, Thin upper lip vermilion, Scaphocephaly, Denta...	OMIM:619149
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Increased connective tissue, Hiatus hernia, Ambiguous genitalia, femal...	OMIM:606408
3C Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Abnormality of the fontanelles or cranial...	ORPHA:7
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Abnormal eyelash morphology, Postaxial hand polydactyly, Synophrys,...	ORPHA:1702
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Renal hypoplasia/aplasia, Micrognathia, Long penis, Abnorm...	ORPHA:1988
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Telecanthus, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae...	ORPHA:228390
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Astigmatism, Ever...	OMIM:614753
Grant Syndrome	Joint dislocation, Frontal bossing, Depressed nasal bridge, Large fontanelles, Brachycephaly, Joi...	ORPHA:2097
Marshall Syndrome	Micrognathia, Knee osteoarthritis, Clinodactyly of the 5th finger, Small proximal tibial epiphyse...	OMIM:154780
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder d...	OMIM:245600
Toluene Embryopathy	Epicanthus, Tapered finger, Micrognathia, Abnormal localization of kidney, Thin vermilion border,...	ORPHA:1920
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Hypoplasia of penis, Brachydactyly, Telecanthus, Joint stiffness, Synop...	ORPHA:1295
Distal Triplication 15Q	Telecanthus, Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Micrognathia, Corneal d...	ORPHA:314588
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Homocystinuria, Bifid uvula...	OMIM:601552
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor...	ORPHA:314585
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Synophrys, Everted lower lip vermilion, Short no...	ORPHA:2429
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna...	OMIM:601346
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Osteoporosis, Cleft palate, In...	ORPHA:90354
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Prominent metopic ridge, Palpebral edema, Depressed nasal brid...	ORPHA:261144
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Single transverse palmar crease, Prominent na...	OMIM:613544
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Synophrys, Brachycephaly, High palate, Gastroesophagea...	OMIM:300882
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, De...	ORPHA:950
Cerebrooculonasal Syndrome	Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Upslanted...	ORPHA:66625
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Single transverse palmar crease, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th fi...	OMIM:617061
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Frontal bossing, Hypoplasia of penis, Hypoplasia of the ulna, Finger syndactyly, Depressed nasal ...	ORPHA:2256
16P13.11 Microduplication Syndrome	Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly, Dolichocephaly	ORPHA:261243
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Frontal bossing, Enlarged joints, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum...	ORPHA:166024
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Turricephaly, Telecanthus, Prominent nose, Carious teeth...	OMIM:203550
Scarf Syndrome	Epicanthus, Craniosynostosis, Wide nasal base, Hepatocellular adenoma, Perineal hypospadias, Cuti...	ORPHA:3134
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal reflux, Vesi...	OMIM:194050
Anencephaly 2	Anophthalmia, Short palpebral fissure	OMIM:619452
Acrocallosal Syndrome	Mandibular prognathia, Coloboma, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid u...	OMIM:200990
Craniotelencephalic Dysplasia	Frontal bossing, Craniosynostosis	ORPHA:1528
Peho-Like Syndrome	Epicanthus, Retrognathia, Short nose, Tapered finger	OMIM:617507
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe, Midface retrusion	OMIM:612581
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Anteverted nares, Prominent nasal bridge, Tapered finger, Upslanted palp...	ORPHA:401777
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Craniosynostosis, Joint hypermobility	OMIM:618906
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, Anterio...	ORPHA:1225
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Abnormality of ...	ORPHA:3121
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Telecanthus, Corneal opacity, Prominent nasal bridge, Tented upper lip v...	ORPHA:364577
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Treacher Collins Syndrome 3	Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic bone, Downslanted ...	OMIM:248390
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the lung, Neoplasm of the ...	ORPHA:424016
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Bifid uvula, In...	ORPHA:2780
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
C Syndrome	Micromelia, Micrognathia, High palate, Dislocated radial head, Short metacarpal, Anteverted nares...	OMIM:211750
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Hypospadias, Anteverted nares, Depressed nasal bridge, S...	OMIM:614613
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Epicanthus, Rhizomelia, Single transverse palmar crease, Craniosynostosis, Bleph...	OMIM:614114
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Congenital diaphragmatic hernia	ORPHA:261102
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the up...	ORPHA:2547
Porphyria Variegata	Proximal muscle weakness in upper limbs, Neurogenic bladder, Localized skin lesion, Chronic kidne...	ORPHA:79473
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Convex nasal ridge, Micrognathia, Generalized joint laxity, Tibial bowi...	ORPHA:251028
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo...	ORPHA:281090
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill...	OMIM:601812
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Submuc...	OMIM:619227
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Brachydactyly, Camptodactyly of finger, Highly arched eyebrow, Micrognathia,...	ORPHA:2083
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Epicanthus, Thick eyebrow, Anteverted nares, Decreased palmar creases, Highl...	OMIM:615834
Acute Generalized Exanthematous Pustulosis	Acantholysis, Conjunctivitis, Scaling skin, Skin vesicle, Purpura	ORPHA:293173
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno...	OMIM:614188
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Abnormality of the kidney, Blepharophimos...	ORPHA:391372
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
3Mc Syndrome	Ptosis, Telecanthus, Craniosynostosis, Highly arched eyebrow, Abnormal nasal morphology, Hip disl...	ORPHA:293843
Ohdo Syndrome	Joint laxity, Epicanthus, Proteinuria, Anteverted nares, Depressed nasal bridge, Blepharophimosis...	OMIM:249620
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Frontal bossing, Absent eyebrow, Hypospadias, Tarsal synostosis, Apla...	ORPHA:85199
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Epicanthus, Renal insufficiency, Renal agenesis, Ambiguous genitalia, Congenital diaphragmatic he...	OMIM:617641
Gombo Syndrome	Microphthalmia	OMIM:233270
Trisomy 13	Preauricular pit, Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology...	ORPHA:3378
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis, Bulbous nose, Brachycephaly, Anteriorly placed anus, R...	OMIM:608980
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co...	OMIM:112240
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Anophthalmia, Synophrys, Long eyelashes, Thick eyebrow	ORPHA:411986
Acrocallosal Syndrome	Cryptorchidism, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia	ORPHA:36
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi...	OMIM:615993
Lathosterolosis	Prominent metopic ridge, Hypoplasia of penis, Toe syndactyly, Epicanthus, Anteverted nares, Micro...	ORPHA:46059
Branchiootorenal Syndrome 1	Renal malrotation, Congenital hip dislocation, Lacrimal duct stenosis, Intestinal malrotation, Un...	OMIM:113650
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Epicanthus, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Oxycepha...	OMIM:200995
Williams Syndrome	Osteopenia, Hypoplasia of penis, Redundant skin, Micrognathia, Rectal prolapse, Abnormal tubuloin...	ORPHA:904
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Ptosis, Anteverted nares, Depressed nasal bridge, H...	OMIM:615866
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger	OMIM:618725
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly a...	OMIM:600325
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Abnormal n...	ORPHA:363659
Hypomelanosis Of Ito	Syndactyly, Epicanthus, Cataract, Thick lower lip vermilion, Hand polydactyly, Radial deviation o...	OMIM:300337
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Telecanthus, Aganglionic megacolon, Camptodactyly of fin...	OMIM:148820
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnor...	ORPHA:2075
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, High palate, Nephro...	OMIM:266920
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f...	ORPHA:3103
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Down Syndrome	Joint laxity, Brachydactyly, Epicanthus, Sandal gap, Depressed nasal bridge, Aganglionic megacolo...	ORPHA:870
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Anteverted nares, Single transverse palmar crease, Narrow...	OMIM:236500
Neurooculocardiogenitourinary Syndrome	Epicanthus, Redundant neck skin, Prominent nasal bridge, Coloboma, Peters anomaly, Abnormality of...	OMIM:618652
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis, Abnormally large globe	OMIM:618504
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi...	OMIM:618821
Potocki-Shaffer Syndrome	Epicanthus, Prominent nasal bridge, Micrognathia, Parietal foramina, Broad nasal tip, Underdevelo...	ORPHA:52022
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Cataract, Depressed nasal bridge, Tented upper lip vermilion, Coxa...	OMIM:619833
Microphthalmia, Syndromic 1	Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Microcornea, High palate, ...	OMIM:309800
Blue Rubber Bleb Nevus	Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, High palate, Bifid uvula, Depressed nasal bridge,...	OMIM:617140
Kury-Isidor Syndrome	Frontal bossing, Finger syndactyly, Ptosis, Anteverted nares, Rocker bottom foot, Proximal placem...	OMIM:619762
Miller-Dieker Syndrome	Epicanthus, Anteverted nares, Clinodactyly of the 5th finger, Nephropathy, Short nose	ORPHA:531
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Anosmia, Cleft palate, Finger joint hypermobility, Hy...	OMIM:244200
Beare-Stevenson Cutis Gyrata Syndrome	Flat occiput, Redundant neck skin, Anteriorly placed anus, Choanal stenosis, High palate, Bifid u...	OMIM:123790
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Microcornea, Clinodactyly of the 5th finger, Broad columella...	ORPHA:2710
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Clinodactyly, Rod-cone dystrophy	OMIM:615984
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Horseshoe kidney, Coloboma, Anal atresia, Low hanging columella	OMIM:619318
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Frontal bossing, Epicanthus, Arachnodactyly, Telecanthus...	ORPHA:377
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Generalized joint laxity,...	ORPHA:287
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries...	ORPHA:284180
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Pallor, Rod-cone dyst...	OMIM:613464
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasia of the ...	OMIM:601390
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent nasal bridge...	OMIM:616914
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Renal cyst, High palate, Joint laxity, Syndactyly, Cloverleaf sk...	OMIM:613610
Joubert Syndrome 10	Epicanthus, Rod-cone dystrophy, Downslanted palpebral fissures, Postaxial polydactyly	OMIM:300804
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Epidermoid cyst, Abnormal eyelid morphology, Ectropion of lower eyelids, Euryb...	ORPHA:1997
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arche...	OMIM:618804
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Anophthalmia, Camptodactyly of finger, Congenital diap...	ORPHA:261344
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Hypospadias, Prominent nasal bridge, Joint stiffness, Long nose, Oral-phary...	OMIM:619184
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Gastroesophageal reflux, Prominent nasal tip,...	OMIM:618218
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Epicanthus, Telecanthus, Wide nose, Redundant skin, Underdeveloped nasal alae,...	ORPHA:1252
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Abruzzo-Erickson Syndrome	Coloboma, Radioulnar synostosis, Hypospadias, Cleft palate	OMIM:302905
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Highly arched eyebrow, Slender finger,...	ORPHA:329224
Axenfeld-Rieger Syndrome	Telecanthus, Anal stenosis, Hypospadias, Redundant skin, Depressed nasal bridge, Posterior embryo...	ORPHA:782
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Hypospadias, Wide anterior fontanel...	OMIM:239710
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Anteverted nares, Carious teeth, Abnormality of the elbow, Thick lower lip vermilion,...	ORPHA:2701
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Cleft palate, Microphthalmia, Ptosis	ORPHA:1915
Cat Eye Syndrome	Anal stenosis, Epicanthus, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia...	OMIM:115470
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
8Q12 Microduplication Syndrome	Telecanthus, Epicanthus, Highly arched eyebrow, Brachycephaly, Wide nasal bridge, Short foot, Gas...	ORPHA:228399
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmo...	ORPHA:2847
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, Eye...	OMIM:613001
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Macroglossia, High palate, Long eyel...	OMIM:614608
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, High palate, Gastroesophageal reflux, Vesicoureteral re...	OMIM:309580
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Ptosis, Redundant neck skin, Genu recurvatum, Redundant skin, Unilatera...	ORPHA:90348
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Ectropion of lower eyelids, Preaxial polyda...	OMIM:614976
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choan...	ORPHA:1555
Trichothiodystrophy 6, Nonphotosensitive	Microcornea, Coronal craniosynostosis, Dry skin, Coxa valga	OMIM:616943
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Frontal bossing, Finger syndactyly, Epicanthus, Arachnodactyly, Camptodactyly ...	ORPHA:2994
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachycephaly, Midface retrusion	ORPHA:35099
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Depressed nasal bridge, Brachycephaly, Cutis laxa, Coloboma, Dysphagia, Dry skin	OMIM:612379
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Epicanthus, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Thin...	OMIM:618430
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Anteverted nares, Blepharophimosis, Underdeveloped nasal alae, Rena...	ORPHA:2031
Waardenburg Syndrome Type 1	Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Tented...	ORPHA:894
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Trisomy 20P	Micrognathia, Brachycephaly, Reduced bone mineral density, Finger syndactyly, Hypospadias, Abnorm...	ORPHA:261318
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Brachydactyly	OMIM:615982
Jackson-Weiss Syndrome	Frontal bossing, Turricephaly, Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe sy...	ORPHA:1540
Intellectual Developmental Disorder, Autosomal Dominant 57	Ptosis, Epicanthus, Telecanthus, Thin upper lip vermilion, Prominent nasal bridge, Craniosynostos...	OMIM:618050
Marshall Syndrome	Frontal bossing, Thick upper lip vermilion, Cataract, Sparse eyelashes, Anteverted nares, Depress...	ORPHA:560
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Plagiocephaly, Short foot, ...	ORPHA:11
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cat...	OMIM:617822
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Platybasia, Decreased calvarial ossification, Bowing of limbs due to...	OMIM:259410
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Tracheoesophageal fistula, Ureteral agenesis, Upslanted palp...	ORPHA:2437
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Gastroesophageal reflux, Micropenis, Iris coloboma, Hypospadias, Cleft soft palate, Tapered finge...	ORPHA:268261
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Abnormality of dental color, Corneal opacity, Recurrent fractures,...	OMIM:163200
Vulto-Van Silfhout-De Vries Syndrome	Joint laxity, Frontal bossing, Epicanthus, Mandibular prognathia, Tented upper lip vermilion, 2-3...	OMIM:615828
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasia of the ...	OMIM:615546
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Anteverted nares, Unilateral renal agenesis, Postaxial pol...	ORPHA:457284
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polyda...	OMIM:300484
Dyskeratosis Congenita	Macule, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the skin, Recurrent fractures, Hyperme...	ORPHA:1775
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wid...	OMIM:207410
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Genu recurvatum, Anteverted nares, Reduced bone mineral density, Joint hyperflexibili...	ORPHA:1185
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Coloboma, Pulp calcification, Taurodontia, Enamel hy...	OMIM:166750
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication o...	OMIM:268310
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Congenital diaphra...	ORPHA:2059
Craniotelencephalic Dysplasia	Craniosynostosis	OMIM:218670
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Myopic astigmatism,...	OMIM:617802
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid...	OMIM:613443
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Ptosis, Telecanthus, Hypospadias, Redundant neck skin, Proximal placement of thumb, B...	OMIM:217980
Warburg Micro Syndrome 3	Cataract, Blepharophimosis, Micrognathia, Flexion contracture, Brachycephaly, Narrow palate, Deve...	OMIM:614222
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Retinal dystrophy, Proximal placement of thumb, Postaxial foot p...	ORPHA:139471
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho...	OMIM:615485
Pentalogy Of Cantrell	Omphalocele, Absent gallbladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cl...	ORPHA:1335
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Gastrointestinal dysmotility, Coloboma, High palate, Gastroesophageal reflux, Shallow...	ORPHA:453499
Intellectual Developmental Disorder, Autosomal Dominant 65	Prominent metopic ridge, Turricephaly, Anteverted nares, Single transverse palmar crease, Tented ...	OMIM:619320
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Hypospadias, Decreased response to growth hormone stimulation test, Cong...	ORPHA:363528
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Penile freckling, Preaxial hand po...	ORPHA:210548
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Brachycephaly, Renal c...	ORPHA:369837
Trisomy 10P	Micrognathia, High palate, Gastroesophageal reflux, Abnormal hip joint morphology, Anteverted nar...	ORPHA:171929
Trisomy 18	Abnormality of the fontanelles or cranial sutures, Microcornea, Iris coloboma, Bilateral single t...	ORPHA:3380
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Mandibular prognathia, Micrognathia, Generalized joint laxity, Coloboma, Hyper...	ORPHA:508498
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Anteverted nares, Depressed n...	OMIM:615398
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micromelia, Micrognathia, Postaxial han...	OMIM:241800
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Gastrointest...	OMIM:270400
Oculodentodigital Dysplasia	Clinodactyly, Microcornea, High palate, Joint contracture of the 5th finger, Short middle phalanx...	OMIM:164200
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Cleft palate, Underdeveloped nasal alae, Unilateral renal agenesis, Short distal phalanx of finger	OMIM:601355
Fetal Valproate Spectrum Disorder	Epicanthus, Thin vermilion border, Depressed nasal ridge, Short nose	ORPHA:1906
Scarf Syndrome	Epicanthus, Prominent nasal bridge, Wide nasal bridge, Perineal hypospadias, Micropenis, Cutis la...	OMIM:312830
Mosaic Trisomy 1	Single transverse palmar crease, Renal cyst, Finger clinodactyly, Congenital bilateral ptosis, Mi...	ORPHA:1692
Robinow Syndrome, Autosomal Dominant 2	Micrognathia, Micropenis, Calvarial osteosclerosis, Anteverted nares, Depressed nasal bridge, Cle...	OMIM:616331
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Knee flexion contracture, Femoral...	OMIM:601559
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Frontal bossing, Epicanthus, Cataract, Anteverted nares, Single transv...	OMIM:247200
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Telecanthus, Anteverted nares, Single tran...	ORPHA:2332
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Redundant skin, Join...	ORPHA:3447
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Frontal bossing, Tented upper lip vermilion, Delayed closure of the anterio...	OMIM:618460
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Single transverse palmar crease, Limited elbow movement, Proximal placement of thu...	OMIM:610759
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Unilateral ptosis, Epicanthus, Thick eyebrow, Tapered finger, High, narrow palate,...	ORPHA:485405
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Gastro...	OMIM:156200
Enlarged Parietal Foramina	Craniosynostosis, Parietal foramina, Short clavicles, Aplasia cutis congenita of scalp, Broad thumb	ORPHA:60015
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Polydactyly, Talipes equinovarus	OMIM:613885
Robinow Syndrome, Autosomal Recessive 2	Frontal bossing, Broad hallux, Sandal gap, Anteverted nares, Micrognathia, Broad nasal tip, Cleft...	OMIM:618529
Moebius Syndrome	Abnormal nasopharynx morphology, Micrognathia, Congenital fibrosis of extraocular muscles, High p...	OMIM:157900
Parietal Foramina 1	Parietal foramina, Wormian bones	OMIM:168500
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Esophageal atresia, Renal h...	OMIM:614083
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Renal hypoplasia, Upslanted palpebral fissure, Metopi...	OMIM:613735
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopi...	OMIM:252600
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly, High palate, Chorioretina...	OMIM:234100
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micromelia, Absent thumb, Absent radius, Micrognathia, Humeroradial ...	OMIM:251230
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Congenital diaphragmatic hernia, Sparse eyebrow, Cryptorchidism, Cleft pala...	OMIM:612530
Otopalatodigital Syndrome Type 2	Thickened calvaria, Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal verteb...	ORPHA:90652
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Megalocornea, Anteverted nares, Depressed nasal b...	OMIM:252500
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Synophrys, Bulbous nose, Astigmatism, Ch...	ORPHA:284169
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Prominent metopic ridge, Telecanthus, Anteverted nares, Depressed nasal bridge, Tented up...	ORPHA:314655
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung lobation, Narrow ...	ORPHA:2063
Joubert Syndrome 40	Almond-shaped palpebral fissure, Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Intellectual Developmental Disorder, Autosomal Recessive 65	Prominent metopic ridge, Hypospadias, Prominent nasal bridge, Bulbous nose, Low hanging columella...	OMIM:618109
Arterial Tortuosity Syndrome	Joint laxity, Keratoconus, Arachnodactyly, Micrognathia, Hiatus hernia, Flexion contracture, Cuti...	OMIM:208050
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Proximal placement of thumb, Microgna...	OMIM:610536
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Synophrys, Upslanted palpebral fissure, Short ...	OMIM:300143
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Submucous cleft ...	ORPHA:250999
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Gastroesophageal reflux, Clinodactyly of the 5th finger, Joint la...	OMIM:619293
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,...	OMIM:620292
Donnai-Barrow Syndrome	Cataract, Proteinuria, Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Non-acido...	OMIM:222448
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Synophrys, Microcornea, Gastroesophageal reflux, Joi...	ORPHA:363611
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Broad nas...	OMIM:616541
Pancreatic Colipase Deficiency	Cholelithiasis, Fat malabsorption, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Distal Duplication 6P	Frontal bossing, Cataract, Prominent nasal bridge, Micrognathia, Abnormal eyelash morphology, Ren...	ORPHA:1745
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Craniosynostosis, Increased susceptibility to fractures, Reduc...	ORPHA:561
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Gastroesophageal reflux, Vesicoureteral ref...	OMIM:605039
Leber Congenital Amaurosis 1	Keratoconus, Hyperthreoninuria, Cataract	OMIM:204000
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Periventricular Nodular Heterotopia 9	Prominent metopic ridge, Epicanthus, Everted upper lip vermilion, Single transverse palmar crease...	OMIM:618918
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Megalocornea, Hypoplastic ischia, Bowing of the legs, Micrognathia, Meto...	ORPHA:313855
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Epicanthus, Congenital diaphragmatic hernia, Sparse eyebrow, Cleft palate, Downslanted palpebral ...	OMIM:606164
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypospadias, Depressed nasal bridge, Polydactyly, Short nose, Hypoplastic ischia	OMIM:616910
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, Copper beaten skull, High palate,...	OMIM:617063
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Epicanthus inversus, Flexion contracture, Brachycephaly, High palate, Micropenis, H...	OMIM:309590
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,...	OMIM:616300
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger...	OMIM:617926
Fanconi Anemia, Complementation Group O	Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Small thenar eminence...	OMIM:613390
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax...	OMIM:615986
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Cataract, Underdevelo...	ORPHA:217346
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Sandal gap, Anteverted nares, Short toe, Synophrys, Anterio...	OMIM:617877
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent p...	OMIM:219700
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Flexion contracture, Long eyelashes, Craniosynostosis, Ptosis	OMIM:619076
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Frontal bossing, Epicanthus, Toe syndactyly, Anteverted nares, Camptodactyly o...	ORPHA:261211
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Microcornea, Iris co...	ORPHA:2839
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas...	ORPHA:508488
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Mic...	ORPHA:166272
Glycogen Storage Disease Xii	Hepatomegaly, Ptosis, Epicanthus, Splenomegaly, Jaundice, Elevated circulating alanine aminotrans...	OMIM:611881
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, ...	OMIM:300558
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Depressed nasal bridge, Craniosynostosis, Ankle flexion contracture, Micr...	ORPHA:284417
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Dermotrichic Syndrome	Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, Aminoaciduria, Blepharophimosis, ...	ORPHA:99688
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Jaundice, Increased muscle glycogen content, Hematuria, Increased...	OMIM:232800
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Tubulointerstitial nephritis, High palate, ...	OMIM:218330
Noonan Syndrome 13	Micrognathia, High palate, Gastroesophageal reflux, Joint laxity, Prominent metopic ridge, Anteve...	OMIM:619087
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Anteverted nares, Depressed nasal bridge, Corneal opacity, ...	OMIM:618961
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Thick vermilion border, Short nose, Ectopia lentis	ORPHA:833
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Wide nasal bridge	OMIM:309620
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Prominent nose, High, n...	OMIM:180849
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Anteverted nares, Corneal opacity, Micrognathia, Keratitis, Synophrys, Large fontanelles, Wide na...	OMIM:602562
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,...	OMIM:218000
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Palmoplantar...	ORPHA:2251
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Distichiasis, High palate, Micrognathia	ORPHA:2598
German Syndrome	Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Synop...	ORPHA:2077
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t...	ORPHA:85184
Stickler Syndrome Type 1	Cataract, Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnorm...	ORPHA:90653
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Anteverted nares, Prominent nasal bridge, Micrognathia, Con...	ORPHA:251019
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma	OMIM:613835
Schizophrenia 1	Frontal bossing, Syndactyly, Flat occiput, Ectopic kidney, Short proximal phalanx of the 4th toe	OMIM:181510
Rotor Syndrome	Conjunctival icterus, Bilirubinuria, Porphyrinuria	ORPHA:3111
Blepharocheilodontic Syndrome 2	Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Euryblepharon, Distichiasis	OMIM:617681
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten...	OMIM:615716
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n...	OMIM:186500
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Widely pa...	OMIM:228520
Arboleda-Tham Syndrome	Mandibular prognathia, Conjunctivitis, Gastroesophageal reflux, Sparse medial eyebrow, Genu varum...	OMIM:616268
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Bi...	ORPHA:87
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Upslanted palpebral fissure, Hip ...	ORPHA:496790
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum	OMIM:302950
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Osteoglosphonic Dysplasia	Rhizomelia, Anteverted nares, Craniosynostosis, Micrognathia, Choanal atresia, Multiple unerupted...	ORPHA:2645
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Limitation of joint mobility, Camptodactyly of...	ORPHA:376
Opitz-Kaveggia Syndrome	Multiple joint contractures, Single transverse palmar crease, Micrognathia, Prominent nose, Anter...	OMIM:305450
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Bowing of the legs, Micromelia, Hypercalciuria, I...	OMIM:241500
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Micropenis, Sparse eyelashes, Congenital diaphragmatic hernia	ORPHA:370079
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Coloboma, High palate, Clinodactyly of the 5t...	OMIM:309500
Sweet Syndrome	Abnormality of the hand, Skin nodule, Oligoarthritis, Pyoderma gangrenosum, Erythematous plaque, ...	ORPHA:3243
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Hypospadias, Aganglionic megacolon, Sparse eyebrow, Wide nasal bridge, Cleft p...	ORPHA:66629
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Brachycephaly, Microco...	OMIM:244450
Autosomal Dominant Omodysplasia	Frontal bossing, Hypoplasia of penis, Short humerus, Rhizomelia, Depressed nasal bridge, Microgna...	ORPHA:93328
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Depressed nasal bridge, Recurrent fractures, Osteoporosi...	OMIM:613849
Usmani-Riazuddin Syndrome, Autosomal Recessive	Joint laxity, Epicanthus, High palate, Conjunctival hyperemia	OMIM:619548
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Hypospadias, Arachnodactyly, Unilateral renal agenesi...	ORPHA:464306
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short...	ORPHA:2319
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Abnormality of the lower urinary tract, Hernia, Hiatus hernia	ORPHA:101009
6P22 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Redundant skin, Clinodactyly, Hydronephrosis	ORPHA:251046
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Turricephaly, Brachydactyly, Ptosis, Wide nasal bridge,...	ORPHA:710
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Charge Syndrome	Abnormal tibia morphology, Eyelid coloboma, Gastroesophageal reflux, Abnormality of bone mineral ...	ORPHA:138
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
X-Linked Intellectual Disability, Cilliers Type	Hypospadias, Prominent nasal bridge, Small hand, Clinodactyly of the 5th finger, Coronal craniosy...	ORPHA:163971
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Meconium ileus, Malabsorption, R...	ORPHA:586
Kabuki Syndrome	Hypoplasia of penis, Microcornea, Coloboma, High palate, Hypospadias, Highly arched eyebrow, Join...	ORPHA:2322
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Fetal pyel...	ORPHA:264450
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cleft palate	OMIM:120433
Tetrasomy 18P	Epicanthus, Large hands, Thin vermilion border, Achalasia, Downslanted palpebral fissures, Short ...	ORPHA:3307
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of ...	OMIM:613717
Autosomal Recessive Cutis Laxa Type 2A	Frontal bossing, Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity...	ORPHA:357058
Ayme-Gripp Syndrome	Mandibular prognathia, Ptosis, Broad eyebrow, Thin upper lip vermilion, Depressed nasal bridge, T...	OMIM:601088
Meacham Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung lobation, Hyd...	ORPHA:3097
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Arthrogryposis multiplex congenita, Cleft palate	OMIM:616570
Grant Syndrome	Wormian bones	OMIM:138930
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Wide nose, Iliac crest serration, Anteverted nares, Micromelia, Depressed nasal ...	OMIM:613320
Focal Dermal Hypoplasia	Omphalocele, Acute hepatic failure, Inguinal hernia, Multicystic kidney dysplasia, Camptodactyly ...	ORPHA:2092
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Tapered finger, Micrognathia, Synophrys, Wide nasal bridge, Narrow palate, Hypop...	OMIM:620250
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Redundant skin...	OMIM:612940
Poikiloderma With Neutropenia	Joint laxity, Frontal bossing, Depressed nasal bridge, Joint stiffness, Sparse eyebrow, Micrognat...	OMIM:604173
Joubert Syndrome 14	Epicanthus, Tented upper lip vermilion, Prominent nasal bridge, Highly arched eyebrow, Postaxial ...	OMIM:614424
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Recurrent respiratory infections, Facial hypotonia, Cryptorchidism,...	OMIM:300534
Parietal Foramina With Cleidocranial Dysplasia	Parietal foramina, Widely patent fontanelles and sutures	OMIM:168550
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia	OMIM:274265
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali...	ORPHA:970
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Multiple palmar creases, Blepharophimosis, Short nose, Downslant...	OMIM:611936
Pterygium, Antecubital	Maldevelopment of radioulnar joint, Limited elbow extension, Posterior subluxation of radial head...	OMIM:178200
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Synophrys, Decreased skull ossification, Iris coloboma, Partial absence...	ORPHA:955
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Ankyloblepharon,...	OMIM:612651
Faundes-Banka Syndrome	Frontal bossing, Broad eyebrow, Epicanthus, Thin upper lip vermilion, Micrognathia, Underdevelope...	OMIM:619376
Charlie M Syndrome	Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Wide nasal bridge, Thin vermi...	ORPHA:1406
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cleft palate, Cystic liver ...	OMIM:612284
Pfeiffer Syndrome Type 3	High palate, Vesicoureteral reflux, Finger syndactyly, Broad hallux phalanx, Depressed nasal brid...	ORPHA:93260
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cone-shaped epiphy...	ORPHA:808
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Frontal bossing, Hypospadias, Arachnodactyly, Sandal gap, Narrow n...	OMIM:617602
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Prominent metopic ridge, Epicanthus, Anteverted nares, Single transvers...	OMIM:619188
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Prominent nasal bridge, Ankle flexion contracture, Unilateral renal agenesis, Tapere...	ORPHA:464311
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Gastroesophageal reflux...	ORPHA:2462
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, High palate, Patchy reduct...	ORPHA:221120
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft ...	OMIM:313850
Weiss-Kruszka Syndrome	Prominent metopic ridge, Epicanthus, Anteverted nares, Single transverse palmar crease, Highly ar...	OMIM:618619
Marshall-Smith Syndrome	Large sternal ossification centers, Synophrys, Distal widening of metacarpals, Coxa vara, Anterio...	OMIM:602535
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Micrognathia, H...	OMIM:212780
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Split foot, Camptodactyly, Joint co...	OMIM:603543
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Redundant neck skin, Micrognathia, Brachycephaly, High palate, Short pa...	OMIM:249420
6Q25 Microdeletion Syndrome	Epicanthus, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Cleft p...	ORPHA:251056
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Zaki Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Sparse eyebrow, High palate, Hydronephrosis, Spa...	OMIM:619648
Trisomy 17P	Hypoplasia of penis, Micrognathia, Prominent nose, Flexion contracture, High palate, Clinodactyly...	ORPHA:261290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Col...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Col...	ORPHA:352665
Pterygium Colli, Isolated	Short nose	OMIM:177990
Carey-Fineman-Ziter Syndrome	Ptosis, Epicanthus, Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of ...	ORPHA:1358
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Craniosynostosis, Broad nasal tip, Sparse eyebrow, Asymmetry of the nares,...	ORPHA:1521
Humeroradial Synostosis	Brachycephaly, Humeroradial synostosis, Wide nasal bridge	OMIM:236400
Gabriele-De Vries Syndrome	Micrognathia, Oral-pharyngeal dysphagia, High palate, Finger joint hypermobility, Sydney crease, ...	ORPHA:506358
Tetrasomy 5P	Epicanthus, Redundant neck skin, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, W...	ORPHA:3309
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Meckel diverticulum, Thick nasal alae, Micrognathia, Chorioretinal coloboma, Dys...	ORPHA:163961
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Choanal stenosis	OMIM:241310
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Hypospadias, Overlapping toe, Highly arched eyebrow, Prominen...	OMIM:618316
2Q37 Microdeletion Syndrome	Short palm, Clinodactyly of the 5th finger, Broad columella, Bilateral single transverse palmar c...	ORPHA:1001
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Flat occiput, Anteverted nares, Depr...	OMIM:152950
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Epicanthus, Trigonocephaly, Tapered finger, Vesicoureteral reflux, Flat acet...	OMIM:617159
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia	ORPHA:563609
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva	OMIM:277350
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Retinal pigment ...	OMIM:617102
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Epicanthus, Wide nose, Camptodactyly of finger, Sclerocor...	ORPHA:284160
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Choanal atresia, Sagitt...	OMIM:610199
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Congenital hip dislocation, Anteverted nares, Redundant skin, Carious teeth, Wid...	OMIM:219200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Hypoplasia of penis, Epicanthus, Sandal gap, Abnormal dental enamel morphology, ...	ORPHA:1812
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Telecanthus,...	ORPHA:2036
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Anal stenosis, Epicanthus, Ureteral hypoplasia, Congenital...	OMIM:614080
Anauxetic Dysplasia 3	Broad eyebrow, Short metacarpal, Brachydactyly, Depressed nasal bridge, Hip subluxation, Wide ant...	OMIM:618853
Fetal Hydantoin Syndrome	Epicanthus, Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Cleft palat...	ORPHA:1912
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Ptosis, Epicanthus, Short f...	ORPHA:264200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Epicanthus, Microretrognathia, Aganglionic ...	OMIM:613603
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep...	ORPHA:783
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Upper eyelid e...	ORPHA:412035
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation...	ORPHA:2741
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Ptosis, Anteverted nares, Sing...	OMIM:305400
Chromosome 13Q33-Q34 Deletion Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Brachycephaly, Anterio...	OMIM:619148
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Choanal stenosis, High palate, Lo...	OMIM:259775
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Lacrimal duct st...	ORPHA:73246
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Microcor...	OMIM:268400
Pallister-Hall Syndrome	Ectopic kidney, Depressed nasal ridge, Micropenis, Bifid uvula, Microretrognathia, Mesoaxial poly...	ORPHA:672
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypospadias, Choanal atresia, Synophrys, Lacrimal duct atresia, Dental malocclusion, An...	OMIM:603457
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Synophrys, Tracheobronchom...	OMIM:613458
Facial Clefting, Oblique, 1	Coloboma, Deep palmar crease, Cleft palate, Cleft upper lip	OMIM:600251
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Upslanted palpebral fissure, Rectovag...	ORPHA:1780
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, High...	OMIM:122470
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Microphthalmia, Syndromic 6	Single transverse palmar crease, Sclerocornea, Micrognathia, Brachycephaly, Microcornea, Coloboma...	OMIM:607932
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Anteverted nares, Depressed nasal bridge, Broad nasal tip, Metaphyseal widening, Flexion contract...	OMIM:300232
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Renal cyst, Coloboma, High palate, Gastroesophageal reflux, Clinodactyly of the 5th...	OMIM:616975
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abno...	ORPHA:958
Smith-Kingsmore Syndrome	Frontal bossing, Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Short proximal pha...	OMIM:616638
Silver-Russell Syndrome 3	Frontal bossing, Syndactyly, Elbow contracture, Small hand, Antecubital pterygium, Clinodactyly o...	OMIM:616489
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Abnormal eyelid morphology, Micrognathia, High, narrow palat...	ORPHA:1787
Nanophthalmos	Microphthalmia	ORPHA:35612
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal lung lobation,...	ORPHA:2538
Doors Syndrome	Abnormal finger morphology, Brachycephaly, Nephrocalcinosis, High palate, Gastroesophageal reflux...	ORPHA:79500
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper...	OMIM:308700
Achondrogenesis	Frontal bossing, Anteverted nares, Abnormal enchondral ossification, Abnormality of bone mineral ...	ORPHA:932
Joubert Syndrome 37	Frontal bossing, Prominent metopic ridge, Wide nose, Anteverted nares, Postaxial polydactyly, Wid...	OMIM:619185
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Py...	ORPHA:457279
Ogden Syndrome	Microretrognathia, Frontal bossing, Everted upper lip vermilion, Broad hallux, Delayed cranial su...	ORPHA:276432
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis...	OMIM:308750
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Ectopic kidney, Micrognathia, Abnormal pu...	ORPHA:233
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ptosis, Epicanthus, Cataract, Renal agenesis, ...	OMIM:220500
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Atrophic scars, Milia, Congenital localized absence of skin	OMIM:226700
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Zollinger-Ellison syndrome, Abnormal biliary tract morp...	ORPHA:438274
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Polydactyly, Microphthalmia, Downslanted palpebral fissures	OMIM:602501
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Euryblepharon, Aplasia cutis con...	OMIM:119580
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Knee flexion contracture, High palate, Wrist flexion co...	OMIM:193700
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Highly arched eyebrow, Micr...	ORPHA:3253
Meckel Syndrome 12	Anteverted nares, Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Antecubital pterygium, R...	OMIM:616258
Orofaciodigital Syndrome Xi	Downslanted palpebral fissures, Postaxial polydactyly	OMIM:612913
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Aplasia cutis congenita, Widely spaced toes, Mitten deformity, Clinodacty...	OMIM:609638
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Cataract, Narrow nasal ridge, ...	OMIM:219150
Filippi Syndrome	Frontal bossing, Enlarged epiphyses, Finger syndactyly, Wide nose, Prominent nasal bridge, Underd...	ORPHA:3255
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Rod-cone dystrophy, Macular hypopigmentation, Polydactyly	OMIM:617119
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short no...	OMIM:614524
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Brachycephaly, Gastroesophageal reflux, Joi...	OMIM:615419
Silver-Russell Syndrome 1	Frontal bossing, Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormality of the ureter...	OMIM:180860
Corpus Callosum Agenesis-Neuronopathy Syndrome	Turricephaly, Craniosynostosis	ORPHA:1496
Alpha-Mannosidosis, Infantile Form	Osteopenia, Mandibular prognathia, Brachycephaly, Oligosacchariduria, Cortical thickening of long...	ORPHA:309282
Ferguson-Bonni Neurodevelopmental Syndrome	Unilateral ptosis, High palate, Congenital diaphragmatic hernia	OMIM:619699
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Clinodactyly of the 5th finger, Bi...	ORPHA:1507
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Epicanthus, Hypospadias, Sparse eyebrow, High, narrow palate, Recurrent pneumoni...	ORPHA:464738
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Hemoglobinuria, A...	ORPHA:90038
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, High palate, Short palm, Micropenis, Duplication of the distal phalanx of hand, Ren...	OMIM:180700
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorch...	ORPHA:2311
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f...	ORPHA:508533
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Cleft palate	OMIM:236110
Suleiman-El-Hattab Syndrome	Optic disc pallor, Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Preauricul...	OMIM:618950
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Palpebral edema, Broad palm, Skin vesicle, Long eyelashes, Limb undergrowth, Bro...	ORPHA:99843
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K...	ORPHA:2614
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo...	ORPHA:503
Non-Syndromic Metopic Craniosynostosis	Trigonocephaly, Wide nasal bridge	ORPHA:3366
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Acromelic Frontonasal Dysostosis	Syndactyly, Telecanthus, Remnants of the hyaloid vascular system, Broad nasal tip, Parietal foram...	OMIM:603671
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Cataract, Depressed nasal bridge, Rocker bottom foot, Megalocornea, Tap...	OMIM:601353
Marcus-Gunn Syndrome	Unilateral ptosis, Choanal atresia, Nephrolithiasis, Cleft palate, Abnormality of the sense of sm...	ORPHA:91412
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Upslanted palpebral fissure, Short nose, Thick eyebrow	ORPHA:228384
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Hypospadias, Prominent nasal bridge, Proximal placement of thum...	ORPHA:251071
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Wiedemann-Steiner Syndrome	Synophrys, Clinodactyly, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Di...	ORPHA:319182
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Cataract, Depressed nasal bridge, Craniosynostosis, Tapered finger, Micrognathia...	OMIM:620005
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ...	ORPHA:568
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Depressed nasal bridge, P...	ORPHA:46627
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Short nose, Midfa...	OMIM:613038
Angelman Syndrome	Mandibular prognathia, Abnormality of the gastrointestinal tract, Keratoconus, Flat occiput, Iris...	ORPHA:72
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micrognathia, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux...	OMIM:620073
Pterygium Of Conjunctiva And Cornea	Pterygium, Abnormal conjunctiva morphology	OMIM:178000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Postaxial polydactyly, Highly...	ORPHA:404440
Lig4 Syndrome	Hypoplasia of penis, Epicanthus, Telecanthus, Micrognathia, Malabsorption, Erythema, Brachycephal...	ORPHA:99812
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm, Ptosis	OMIM:618238
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Epicanthus, Cataract, Sclerocornea, Micrognathia, Underdeveloped na...	OMIM:614230
Waardenburg Syndrome Type 3	Narrow nasal bridge, Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Joint stif...	ORPHA:896
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Rhabdomyolysis, Hematochezia, Cholestatic li...	ORPHA:79095
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Cleft soft palate, Intestinal malrotation, Flexion contracture, Renal hypop...	OMIM:619321
Vitamin K Antagonist Embryofetopathy	Cataract, Anteverted nares, Depressed nasal bridge, Choanal atresia, Epiphyseal stippling, Macrog...	ORPHA:1914
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Wide nose, Anteverted nares, Down-sloping sho...	ORPHA:391408
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Cataract, Unilateral renal agenesis, Cariou...	ORPHA:90324
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Epicanthus, Hypospadias, Limited elbow movement, Unilate...	OMIM:151100
Neurooculorenal Syndrome	Hypoplasia of the bladder, Iris atrophy, Intestinal malrotation, Unilateral renal agenesis, Short...	OMIM:620305
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, Microcornea, High palate, Ecchymosis,...	OMIM:601776
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chon...	ORPHA:99646
Cleidocranial Dysplasia	Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Glossoptosis,...	ORPHA:1452
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Decreased calvarial ossificati...	OMIM:614592
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diameter, Depress...	OMIM:258315
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Anteriorly placed anus, Vesicoureteral reflux, Micropenis, Short phalanx of finger,...	OMIM:616894
1Q44 Microdeletion Syndrome	Frontal bossing, Prominent metopic ridge, Epicanthus, Telecanthus, Intestinal malrotation, Microg...	ORPHA:238769
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Short distal ...	ORPHA:957
Adams-Oliver Syndrome 6	Syndactyly, Renal hypoplasia, Foot oligodactyly, Aplasia cutis congenita of scalp, Calvarial skul...	OMIM:616589
Peho Syndrome	Epicanthus, Tented upper lip vermilion, Tapered finger, Short nose, Retrognathia	OMIM:260565
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbladder, Ade...	ORPHA:171
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Frontal bossing, Crumpled long bones, Corneal opacity, Metaphyseal wide...	ORPHA:2788
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Epicanthus, Multiple pterygia, Micrognathia, Cleft upper lip...	OMIM:312150
Joubert Syndrome 22	Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Col...	OMIM:615665
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Lentiglobus, Gastroesophageal reflux, Renal hypopla...	ORPHA:191
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Epicanthus, Hypospadias, Single transverse palma...	OMIM:123450
Msh3-Related Attenuated Familial Adenomatous Polyposis	Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena...	ORPHA:480536
Tukel Syndrome	Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap...	OMIM:609428
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Choanal stenosis, Scaling skin, Absent eyebrow, Multicystic kidney dysplasia, Hypospadias, Absent...	OMIM:308205
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Cleft palate, Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Tetraamelia Syndrome 1	Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Peripheral pulmonary vessel aplasia, C...	OMIM:273395
Holoprosencephaly 7	Flat occiput, Synophrys, Hypoplastic nasal septum, Shallow orbits, Parietal bossing, Median cleft...	OMIM:610828
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Frontal bossing, Epicanthus, Hypospadias, Multiple pterygia, Talipes equinovar...	OMIM:177980
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infection...	OMIM:614069
Nanophthalmos 4	Microphthalmia	OMIM:615972
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
46,Xx Sex Reversal 5	Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly	OMIM:618901
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Synophrys, Thick lower lip vermilion, Anosmia, Wide nasal bridge, Cutaneou...	OMIM:210745
Vernal Keratoconjunctivitis	Abnormal cornea morphology, Abnormal conjunctiva morphology, Corneal neovascularization, Punctate...	ORPHA:70476
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Synophrys, Renal cyst, High palate, Iris coloboma, Dislocated radial he...	OMIM:102500
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Osteopenia, Sclerotic cranial sutures, Abnormal hand morphology, Osteolysis involvin...	ORPHA:371428
9Q33.3Q34.11 Microdeletion Syndrome	Single transverse palmar crease, Brachycephaly, Patellar hypoplasia, Bilateral coxa valga, Microp...	ORPHA:495818
Spondylocarpotarsal Synostosis Syndrome	Renal cyst, Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ...	OMIM:272460
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, M...	OMIM:227330
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Epicanthus, Hypospadias, Nephroblastoma, Anteverted nares, Microgna...	OMIM:257300
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Abnormality of the...	ORPHA:356961
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal h...	OMIM:619488
Mannosidosis, Beta A, Lysosomal	Increased urinary disaccharide excretion, Tortuosity of conjunctival vessels	OMIM:248510
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Telecanthus, Anteverted nares, Down-sloping shoulders, Promin...	ORPHA:1974
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Hypospadias, Epicanthus, Cryptorchidism, High, narrow pal...	OMIM:248700
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Redundant skin, Epispadias, High, narrow palate, Abnormal finger morpholog...	ORPHA:2658
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ...	ORPHA:2334
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Dermatopathia Pigmentosa Reticularis	Abnormal conjunctiva morphology, Palmoplantar hyperkeratosis	OMIM:125595
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Renal cyst, High palate, Syndactyly, Hypospadias, Renal hypoplasia, Flat acetabular r...	OMIM:614091
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement...	OMIM:261540
Penoscrotal Transposition	Epicanthus, Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal tr...	ORPHA:2842
Distal Deletion 9P	Epicanthus, Hypospadias, High, narrow palate, Wide nasal bridge, Cleft palate, Upslanted palpebra...	ORPHA:1642
Hartsfield Syndrome	Syndactyly, Epicanthus, Wide nose, Hypospadias, Median cleft lip, Craniosynostosis, Cleft upper l...	OMIM:615465
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Iris hypopigmentatio...	ORPHA:2719
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cooper-Jabs Syndrome	Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Brachycephaly,...	ORPHA:261494
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Wide nose, Posterior embryotoxon, Hypospadias, Abnormal nasolacrimal s...	ORPHA:2556
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Gastroesophageal reflux, Camptodactyly of finger, Micrognathia	ORPHA:1495
Macrocephaly/Autism Syndrome	Joint laxity, Frontal bossing, Epicanthus, Depressed nasal bridge, Penile freckling, Cutis laxa, ...	OMIM:605309
Microphthalmia, Syndromic 8	Blepharophimosis, Microphthalmia, Short palpebral fissure, Cleft palate	OMIM:601349
Otoonychoperoneal Syndrome	Flexion contracture, Knee flexion contracture, Upslanted palpebral fissure, Popliteal pterygium, ...	ORPHA:2793
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Epicanthus, Sandal gap, Anteverted nares, Depressed nasal bridge, Long ...	ORPHA:357001
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia, Ptosis, Bilateral cleft lip and palate	ORPHA:1473
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Synophrys, Reduced bone mineral density, Genu valgum, Thin vermilion border,...	ORPHA:2983
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Gastrointestinal dysmotility, Gastroesophageal reflux, Bifid uvula, Ar...	ORPHA:500150
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno...	ORPHA:899
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Highly arched eyebrow, Multiple prenatal fract...	OMIM:618644
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, High, narrow palate, Coxa vara, Short ...	ORPHA:3107
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Uraciluria	OMIM:274270
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Micromelia, Micrognathia, Wide nasal bridge, Short long bone,...	OMIM:224410
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Lacrimal duct stenosis, Depressed nasal bridge, Ectopic kidney, Thi...	OMIM:613328
Oculocerebrofacial Syndrome, Kaufman Type	Absent eyebrow, Epicanthus, Flat occiput, Arachnodactyly, Telecanthus, Micrognathia, High, narrow...	ORPHA:2707
Trichothiodystrophy	Joint dislocation, Osteopenia, Increased bone mineral density, Multiple joint contractures, Epica...	ORPHA:33364
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Micrognathia, Anorectal anomaly, Gastroesophageal reflux, Vesicourete...	ORPHA:567
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Brachycephaly, High palate, Clinodactyly of the 5th finger, Ocular an...	OMIM:612582
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Camptodactyly of finger, Joint stiffnes...	ORPHA:2876
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Short Syndrome	Telecanthus, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormal ...	ORPHA:3163
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Calcaneovalgus deformity, Brachycephaly, High palate, Micropenis, Arachnodac...	OMIM:612513
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Frontal bossing, Prominent metopic ridge, Mandibular prognathia, Arachnodactyly, Po...	OMIM:619721
Vitamin D-Dependent Rickets, Type 2A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing,...	OMIM:277440
Pagod Syndrome	Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla...	ORPHA:991
Say-Barber-Miller Syndrome	Prominent nasal bridge, Craniosynostosis, Highly arched eyebrow, Sparse eyebrow, Micrognathia, Ca...	ORPHA:3132
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Osteopenia, Redundant skin, Limitation of joint mobility, Large fontanelles, Osteopo...	OMIM:259100
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Anteverted nares, Depre...	ORPHA:97297
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Turricephaly, Crumpled long bones, Bowing of the long...	ORPHA:2050
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, U...	OMIM:619005
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Gastrointestinal infarctions	OMIM:602248
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Clinoda...	OMIM:618087
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Pontocerebellar Hypoplasia, Type 11	Bulbous nose, Coloboma, Talipes equinovarus, Dysphagia, Anal atresia	OMIM:617695
Nicolaides-Baraitser Syndrome	Enlarged joints, Single transverse palmar crease, High, narrow palate, Short metatarsal, Prominen...	OMIM:601358
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Epicanthus, Depressed nasal bridge, Osteoporosis, Camptodactyly, Blepharophimosis, In...	OMIM:616006
Micro Syndrome	Hypoplasia of penis, Cataract, Anteverted nares, Joint stiffness, Micrognathia, Wide nasal bridge...	ORPHA:2510
Cardiofaciocutaneous Syndrome	Redundant skin, High palate, Biparietal narrowing, Anteverted nares, Abnormal morphology of ulna,...	ORPHA:1340
Leber Congenital Amaurosis 9	Keratoconus, Macular coloboma	OMIM:608553
Lathosterolosis	Thick upper lip vermilion, Epicanthus, Toe syndactyly, Anteverted nares, Cataract, Micrognathia, ...	OMIM:607330
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Wide nose, Hypoplasia of the maxilla, Cleft palate, Vesicoureteral reflux, Clinoda...	OMIM:614261
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Joint stif...	ORPHA:1300
Meier-Gorlin Syndrome 6	Microretrognathia, Frontal bossing, Entropion, Sandal gap, Anteverted nares, Depressed nasal brid...	OMIM:616835
Tenorio Syndrome	Osteopenia, Joint laxity, Telecanthus, Thick eyebrow, Mandibular prognathia, Anteverted nares, Wi...	OMIM:616260
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Clinodactyly of the 5th fin...	OMIM:618454
Nephronophthisis 15	Polydactyly, Retinal degeneration	OMIM:614845
Opitz Gbbb Syndrome	Micrognathia, High palate, Vesicoureteral reflux, Prominent metopic ridge, Hypospadias, Anteverte...	ORPHA:2745
Achondrogenesis Type 1A	Frontal bossing, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral ossificat...	ORPHA:93299
Seckel Syndrome 9	Recurrent respiratory infections, Recurrent urinary tract infections, Congenital diaphragmatic he...	OMIM:616777
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Chime Syndrome	Depressed nasal ridge, Brachycephaly, Short palm, Abnormality of the kidney, Aplastic clavicle, S...	ORPHA:3474
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Hyperext...	OMIM:610967
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Br...	OMIM:614800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Epicanthus, Renal agenesis, Hypospadias, Anteverted nares, Tapered finger,...	OMIM:301040
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Conj...	OMIM:211900
Muckle-Wells Syndrome	Renal insufficiency, Clubbing of fingers, Polyarticular arthritis, Conjunctivitis, Renal amyloido...	OMIM:191900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Kerato...	OMIM:240300
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Frontal bossing, Cataract, Hypoplasia of the nasal bone, Knee flexion contractur...	OMIM:118650
Dysostosis, Stanescu Type	Narrow nasal bridge, Persistent open anterior fontanelle, Increased bone mineral density, Bowing ...	ORPHA:1798
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Bladder diver...	OMIM:219100
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Nevus flammeus, Comedo	ORPHA:64754
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure,...	OMIM:616420
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Hepatitis, Hemoglobinuria, Cholelithi...	OMIM:194380
Meckel Syndrome, Type 10	Epicanthus, Ulnar deviation of the hand, Sacral dimple, Postaxial polydactyly, Postaxial hand pol...	OMIM:614175
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Broad nasal tip, Small hand, Wide nasal bas...	ORPHA:488434
Fontaine Progeroid Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Synophrys, Brachycephal...	OMIM:612289
Opsismodysplasia	Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Depressed nasal bridge, Joint stiff...	ORPHA:2746
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Corne...	ORPHA:85167
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Epicanthus, Depressed nasal bridge, Camptodactyly o...	ORPHA:2136
Opsismodysplasia	Frontal bossing, Short metacarpal, Rhizomelia, Anteverted nares, Depressed nasal bridge, Squared ...	OMIM:258480
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Anteverted nares, Wide ...	OMIM:311900
Farber Disease	Abnormality of the knee, Corneal opacity, Abnormality of the hand, Short toe, Abnormality of the ...	ORPHA:333
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Cataract, Tapered finger, Flexion contracture, Hyperextensibility at wrists,...	ORPHA:544503
Kbg Syndrome	Vertebral fusion, Syndactyly, Telecanthus, Anteverted nares, Single transverse palmar crease, Pro...	OMIM:148050
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Acrorenal-Mandibular Syndrome	Epicanthus, Renal agenesis, Congenital diaphragmatic hernia, Elbow flexion contracture, Abnormali...	OMIM:200980
9P13 Microdeletion Syndrome	Microretrognathia, Epicanthus, Thick eyebrow, Anteverted nares, Highly arched eyebrow, Joint stif...	ORPHA:324313
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Noonan Syndrome 3	Frontal bossing, Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosi...	OMIM:609942
White-Sutton Syndrome	Duplicated collecting system, Joint laxity, Mandibular prognathia, Depressed nasal bridge, Microg...	OMIM:616364
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplas...	ORPHA:85284
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Prominent nasal bridge, Tapered finger, Horseshoe kidney, Joint hyperflexi...	ORPHA:65286
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, High, narrow palate, Synophrys, Brachycephaly, Knee flexion contract...	OMIM:613776
Menke-Hennekam Syndrome 1	Micrognathia, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, High pala...	OMIM:618332
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Cloverleaf skull, Toe syndactyly, Depressed nasal bridge...	ORPHA:93259
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nas...	OMIM:618505
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Carious teeth, Small hand, Hypo...	ORPHA:1786
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palate, Han...	ORPHA:261197
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Prominent nasal bridge, Flexion contracture, Short nose, Brachycephaly...	OMIM:614225
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, High, narrow palate, Hepatosplenomegaly,...	ORPHA:3166
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Okamoto Syndrome	Redundant neck skin, Tented upper lip vermilion, Urinary incontinence, Gastroesophageal reflux, E...	ORPHA:2729
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed...	ORPHA:247262
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Achondrogenesis Type 1B	Frontal bossing, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Sh...	ORPHA:93298
Constricting Bands, Congenital	Syndactyly, Eyelid coloboma, Hand polydactyly, Talipes equinovarus, Bladder exstrophy	OMIM:217100
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Orofaciodigital Syndrome Xix	Lobulated tongue, High palate, Thick nasal alae, Broad hallux, Cleft soft palate, Wide nasal brid...	OMIM:620107
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Genu varum, Rhizomelia, Antev...	OMIM:271510
Proteus-Like Syndrome	Mandibular prognathia, Cataract, Genu recurvatum, Anteverted nares, Abnormal pupil morphology, Hy...	ORPHA:2969
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez...	ORPHA:70475
Monosomy 9P	Epicanthus, Hypospadias, Congenital diaphragmatic hernia, Highly arched eyebrow, Cryptorchidism, ...	ORPHA:261112
Joubert Syndrome 16	Coloboma, Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Chikungunya	Macule, Joint stiffness, Periostitis, Erythema, Ankle joint effusion, Osteolysis, Synovitis, Enth...	ORPHA:324625
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide...	OMIM:269300
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening of limbs, Synda...	OMIM:146510
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Anteverted nares, Hypoplasia of teeth, Microcornea, Keratoconjuncti...	OMIM:234050
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Epicanthus, Bowing of the legs, Long hallux, Renal cyst, Colo...	OMIM:617107
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Cataract, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bone...	OMIM:614376
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Anteverted ...	ORPHA:280200
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Sy...	ORPHA:2162
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl...	OMIM:119800
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
C Syndrome	Joint dislocation, Redundant skin, Micromelia, Micrognathia, High palate, Biparietal narrowing, C...	ORPHA:1308
Myotonic Dystrophy 1	Facial diplegia, Cholelithiasis, Dysphagia, Testicular atrophy	OMIM:160900
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Tapered finger, Broad nasal tip, Su...	OMIM:619680
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Caudal appendage, Syndactyly, Ureteral sten...	OMIM:272950
Acrootoocular Syndrome	Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Shor...	ORPHA:2980
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li...	OMIM:601356
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Orofaciodigital Syndrome Type 6	Micrognathia, Preaxial polydactyly, Finger clinodactyly, Lobulated tongue, High palate, Biparieta...	ORPHA:2754
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Inguinal hernia, Absent gallbladder, Intestinal malrotation, Congenital dia...	OMIM:600001
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Microphthalmia, Syndromic 13	Microphthalmia, Ptosis	OMIM:300915
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Coronal craniosynostosis, Retrognathia	ORPHA:163976
Alg9-Cdg	Villous atrophy, Micrognathia, Brachycephaly, Narrow greater sciatic notch, Gastroesophageal refl...	ORPHA:79328
Biemond Syndrome Type 2	Coloboma, Preaxial polydactyly, Hypospadias	ORPHA:141333
Acromesomelic Dysplasia 1	Joint laxity, Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limi...	OMIM:602875
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Large fon...	ORPHA:3078
Triploidy	Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrotation, Micrognath...	ORPHA:3376
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Pt...	ORPHA:1587
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Frontal bossing, Epicanthus, Dermal translucency, Lacrimal duct stenosis, Wide nose, Highly arche...	OMIM:617506
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Epicanthus, Anal stenosis, Hypospadias, Blepharophimosis, Micrognathia, H...	ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Mic...	OMIM:613155
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,...	OMIM:613870
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, ...	OMIM:274000
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo...	ORPHA:3320
Aicardi-Goutières Syndrome	Multiple joint contractures, Developmental glaucoma, Plagiocephaly, Arthritis, Eyelid coloboma, M...	ORPHA:51
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Prader-Willi Syndrome Due To Translocation	Flat occiput, Micrognathia, Prominent nose, High palate, Clinodactyly of the 5th finger, Bifid uv...	ORPHA:177907
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Clef...	ORPHA:261236
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Jejunal atresia, Intestina...	OMIM:243150
Dubowitz Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the iris, High palate, Gastroesophag...	OMIM:223370
Desmosterolosis	Frontal bossing, Increased bone mineral density, Epicanthus, Renal agenesis, Depressed nasal brid...	ORPHA:35107
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Radial Heads, Posterior Dislocation Of	Posterior radial head dislocation, Limited elbow extension, Antecubital pterygium	OMIM:179200
Osteopetrosis, Autosomal Recessive 1	Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis,...	OMIM:259700
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bon...	ORPHA:50945
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand...	ORPHA:56304
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial apla...	ORPHA:476126
Meckel Syndrome, Type 2	Omphalocele, Intestinal malrotation, Renal cyst, Cleft palate, Bile duct proliferation, Microphth...	OMIM:603194
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Brachycephaly, Anteriorly placed anu...	OMIM:211380
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Rieger anomaly, Tented upper lip vermilion, Abnor...	ORPHA:521445
Perlman Syndrome	Distal ileal atresia, Nephrogenic rest, Renal hamartoma, Congenital diaphragmatic hernia, Hypopla...	OMIM:267000
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Short...	ORPHA:2756
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Epicanthus, Telecanthus, Cataract, Micrognathia, Thick ...	ORPHA:85321
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, High palate, Finger ...	OMIM:212720
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Choanal atresia, Micrognathia, Cleft soft palate,...	OMIM:154500
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous return, Abnormal lung lobation, Conge...	ORPHA:1120
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Brachycephaly, Choanal stenosis, Short...	OMIM:619859
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Abnormality of the kidney, Cataract, Reduced b...	ORPHA:2611
Pycnodysostosis	Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral density, Aplastic cl...	OMIM:265800
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Renal hypoplasia/aplasia, Joint stiffness, Micrognathia, Underdeveloped nasal ala...	ORPHA:2516
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Wide...	OMIM:617952
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Protruding tongue, Intestinal...	OMIM:300963
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/Hypoplasia of the maxi...	ORPHA:40366
Koolen-De Vries Syndrome	High palate, Prominent fingertip pads, Vesicoureteral reflux, Iris hypopigmentation, Vertebral fu...	OMIM:610443
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Prominent eyelashes, Wide nasal bridge, Upslanted palp...	OMIM:619179
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
2P15P16.1 Microdeletion Syndrome	Brachycephaly, High palate, Bilateral single transverse palmar creases, Prominent metopic ridge, ...	ORPHA:261349
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Cohen Syndrome	Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinoda...	ORPHA:193
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Renal cyst, Hypospadias, Cryptorchidism, Esophag...	OMIM:229850
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Brachyceph...	ORPHA:199
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome...	ORPHA:79301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Muscular dystrophy	OMIM:614830
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel...	ORPHA:521219
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Micrognathia, Symphalangism a...	ORPHA:2990
Neu-Laxova Syndrome	Osteopenia, Micromelia, Abnormal eyelid morphology, Micrognathia, Flexion contracture, Depressed ...	ORPHA:2671
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Depressed nasal bridge, Hip dislocation, Brachycephaly, Polycystic kidney dyspla...	OMIM:608776
Trisomy 9P	Bilateral single transverse palmar creases, Abnormal nasal morphology, Abnormal pupil morphology,...	ORPHA:236
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormal lung lobation, Gastroesophageal re...	ORPHA:818
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Skin ulcer, Concave nasal ridge, Hi...	OMIM:170100
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Abnormal vitreous...	ORPHA:1101
Filippi Syndrome	Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Low hanging colum...	OMIM:272440
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Depressed nasal ridge, Brachycephaly, Gastroesophagea...	ORPHA:96264
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ...	OMIM:619995
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Brachycephaly, Microcornea, Clinodactyly of the 5...	ORPHA:709
Ring Chromosome 7 Syndrome	Unilateral ptosis, Mandibular prognathia, Single transverse palmar crease, Brachycephaly, Clinoda...	ORPHA:1449
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Epicanthus, Renal tubular dysfunction, Cholelithiasis, Hepatic fai...	OMIM:614886
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Wormian bones, Protrusio acetabuli, Recurrent fractures, Severe generalized oste...	OMIM:259420
Porphyria, Congenital Erythropoietic	Hepatomegaly, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Red urine, Corneal scarr...	OMIM:263700
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Gastroesophageal reflux, Talipes equinovarus, Ever...	OMIM:617865
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac...	ORPHA:1865
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Gastroesophageal reflux	OMIM:617450
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Synophrys, Cleft palate, Polysp...	OMIM:614294
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ptosis, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Splenomegaly, Synop...	OMIM:618268
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Brachycephaly, Bifid uvula, Joint laxity, Depressed nasal bridge, Tapered finger,...	OMIM:300968
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Enlarged ovaries, Rec...	ORPHA:508
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Dermal translucenc...	ORPHA:2962
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Epicanthus, Congenital hip dislocation, Depressed nasal bridge, Wide nasal bridge, Hi...	OMIM:104350
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Ptosis, Short metacarpal, Iris atrophy, Long eyebrows, Cleft upper lip, Br...	OMIM:201180
Melnick-Needles Syndrome	Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Short distal phalanx of fi...	ORPHA:2484
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Micrognathia, High, narrow palate...	ORPHA:2789
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Synophrys, Hypertrophy of the urinary bladder, High palate, Gastroeso...	ORPHA:280633
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, 2-3 toe synd...	OMIM:618653
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Rieger anomaly, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephal...	OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Coloboma, Cataract, Corneal opacity	OMIM:613153
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Frontal bossing, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality ...	ORPHA:163966
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Prominent fi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Hand muscle atrophy, Fetal pyelectasis, Calcaneovalgus deformity, Prominent fi...	ORPHA:363958
Ring Chromosome 10 Syndrome	Downslanted palpebral fissures, Microphthalmia, Aganglionic megacolon, Renal hypoplasia/aplasia	ORPHA:1438
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered fing...	OMIM:615560
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev...	ORPHA:97261
Schilbach-Rott Syndrome	Epicanthus, Hypospadias, Micrognathia, Prominent nose, Long nose, 2-3 toe cutaneous syndactyly, S...	OMIM:164220
Dend Syndrome	Prominent metopic ridge, Anteverted nares, Bilateral ptosis, Clinodactyly of the 4th finger, Shor...	ORPHA:79134
Joubert Syndrome 15	Coloboma, Micropenis, Preaxial polydactyly, Nephronophthisis	OMIM:614464
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Upslanted palpebral fissure, Camptodactyly, Long palpebral fissure, Mic...	OMIM:619694
Choanal Atresia	Nasal congestion, Tracheomalacia, Craniosynostosis	ORPHA:137914
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Elbow dislocation, Met...	ORPHA:2249
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Pseudobulbar paralysis, Ga...	OMIM:618651
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Redundant neck skin, Redundant skin, Delayed closure of the anterior ...	ORPHA:357074
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Me...	OMIM:300863
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polyda...	OMIM:615996
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Ptosis, Camptodactyly of finger, Joint stiffness, Micrognathia, Narrow palate,...	ORPHA:1323
Six2-Related Frontonasal Dysplasia	Frontal bossing, Depressed nasal bridge, Abnormality of the kidney, Broad nasal tip, Wide anterio...	ORPHA:488437
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, G...	ORPHA:289176
Rapp-Hodgkin Syndrome	Syndactyly, Absent lacrimal punctum, Hypospadias, Sparse eyelashes, Depressed nasal bridge, Under...	OMIM:129400
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Steroid-dependent nephrotic syndrome, Single t...	OMIM:300912
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux,...	OMIM:600987
Hydrolethalus	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Micromelia	ORPHA:2189
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, H...	ORPHA:2237
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T...	ORPHA:2215
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, Under...	ORPHA:83617
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Portal hypertensi...	ORPHA:774
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hip dislocation, Macroglossia, Wormian bones, Dry skin	OMIM:614450
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion cont...	OMIM:259450
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Micrognathia, Congenital contracture, High palate, Short nose	OMIM:615042
1P31P32 Microdeletion Syndrome	Frontal bossing, Craniosynostosis	ORPHA:401986
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx...	OMIM:615777
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ptosis, Prominent nasal bridge, Highly arched eyebrow, Ectopic kidney, Short t...	ORPHA:1519
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Redundant neck skin, Single transverse palmar crease, Micrognathia, High, narrow pa...	OMIM:214100
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Cataract, Palmar pits, Joint hyperflexibility, Polydactyly...	ORPHA:77301
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S...	OMIM:602347
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Micrognathia, Flexion contracture, Stage 5 chronic kidney disease, Hypoplasia...	OMIM:608612
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Coloboma, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Joint laxity...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Coloboma, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Joint laxity...	ORPHA:353277
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Epicanthus, Multiple pterygia, Micrognathia, Flexion contrac...	OMIM:253290
Acrocardiofacial Syndrome	Joint dislocation, Finger syndactyly, Hypoplasia of penis, Hallux valgus, Hypospadias, Camptodact...	ORPHA:2008
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema...	ORPHA:157794
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Epicanthus, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Pla...	OMIM:613457
Pediatric-Onset Graves Disease	Keratitis, Small anterior fontanelle, Craniosynostosis, Abnormal eyelid morphology	ORPHA:525731
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Absent eyelashes, Cutaneous syndactyly, Palmoplantar keratoderma, Keloids, Conjun...	ORPHA:2890
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Micromelia, Erythema, Flexion contracture, Wide nasal b...	OMIM:610015
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Epicanthus, Aplasia of the nasal bone, Hypospadias, Acrania, Ileal atresia, Joint sti...	OMIM:618820
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Cryptorchidism, High, narrow palate, Synophrys, Contractures of the la...	ORPHA:96092
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Upslanted palpebral fissure, Clinodactyly, Retrognathia	OMIM:619092
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Frontal bossing, Syndactyly, Brachydactyly, Telecanthus, Microretrognathia, Proximal ...	OMIM:615789
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmatic hernia, Cleft palate, Ren...	OMIM:613309
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Hypospadias, Single transverse palmar crease, Anteverted nare...	OMIM:610253
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Keratoconus, Epicanthus, Malabsorption, Elbow dislocation, Osteoarthritis, Lim...	ORPHA:285
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Brachy...	OMIM:601701
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, High palate, Pallor, Triphalangeal thumb, Cleft upper lip, P...	OMIM:105650
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Polydactyly, Abnormality of the hand	OMIM:245800
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Spa...	OMIM:614008
Sacral Agenesis With Vertebral Anomalies	Anal atresia, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Anosmia, Osteoporosis, Anterior plagiocephaly, Joint hypermobility	OMIM:619718
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Palmoplantar keratoderma, Conjunctivitis	OMIM:242150
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Mandibular prognathia, Metaphyseal widening, Knee dislocation, High palate, Gastroeso...	OMIM:620083
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev...	ORPHA:97278
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria, Cleft palate, Reduced number of intrahepatic b...	ORPHA:79284
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Aganglionic megacolon, Esophageal atresia...	ORPHA:59315
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th fin...	OMIM:608670
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Depressed nasal bri...	ORPHA:95717
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Increas...	ORPHA:800
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Renal cyst, Chorioretinal coloboma, Clinodacty...	ORPHA:744
Chops Syndrome	Cataract, Anteverted nares, High, narrow palate, Synophrys, Vesicoureteral reflux, Horseshoe kidn...	OMIM:616368
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Oculoskeletodental Syndrome	Epicanthus, Renal agenesis, Elbow flexion contracture, Hypercalciuria, Wide nasal bridge, Develop...	OMIM:618440
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Urethral atresia, Vesic...	ORPHA:1896
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Plagiocepha...	OMIM:300749
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Wide nose, Micrognathia, Protruding tongue, Upslanted palpebral fissure, Exce...	OMIM:608779
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced tarsal ossification, A...	OMIM:269250
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, High palate, Gastroesophageal ...	OMIM:115150
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Kindler Epidermolysis Bullosa	Urethral stricture, Flexion contracture, Inflammation of the large intestine, Colitis, Conjunctiv...	ORPHA:2908
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Synophrys, Glossoptosis, High palate, Gastroesophageal reflux, Vesicoureteral reflu...	ORPHA:444077
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Hypoplasia of penis, Hypospadias, Underdevelo...	ORPHA:2315
Pierpont Syndrome	Telecanthus, Cryptorchidism, Abnormal subcutaneous fat tissue distribution, Narrow palpebral fiss...	ORPHA:487825
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Joint laxity, Depressed nasal bridge, Craniosynostosis, Micrognathia, Upslanted palpebral fissure...	ORPHA:412069
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Fumarase Deficiency	Frontal bossing, Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinat...	OMIM:606812
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Protruding tongue, Malabsorpt...	OMIM:242860
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Turricephaly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffnes...	ORPHA:1005
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Highly arched eyebrow, Tapered finger, Underdeveloped nasal alae, Synop...	OMIM:615803
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed anus, Chordee, Colo...	OMIM:309801
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec...	OMIM:618469
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
1Q21.1 Microdeletion Syndrome	Frontal bossing, Broad hallux phalanx, Toe syndactyly, Epicanthus, Cataract, Bulbous nose, Wide n...	ORPHA:250989
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short fing...	OMIM:258860
Cockayne Syndrome Type 2	Anophthalmia, Conjunctivitis, Hypermelanotic macule	ORPHA:90322
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Flat occiput, Renal insufficiency, Anteverted nares, Highly arched eyebrow, ...	ORPHA:96147
Cerebrofaciothoracic Dysplasia	Epicanthus, Wide nose, Cleft upper lip, Synophrys, Brachycephaly, Cleft palate, Short nose, Downs...	ORPHA:1394
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ...	OMIM:119600
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares,...	ORPHA:2886
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu...	OMIM:114300
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narr...	OMIM:122880
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ...	ORPHA:373
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Anisocoria, Male urethral meatus stenosis, Micr...	OMIM:613406
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Epicanthus, Telecanthus, Redundant skin, Delayed closure of the anterio...	OMIM:225410
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Finger syndactyly, Turricephaly, Ectropion, Camptodact...	ORPHA:2907
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the kidney, Tapered finger, Thick lower lip vermilion, Vesicoureteral...	ORPHA:261652
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Joint contracture, Congenital diaphragmatic hernia, Dysphagia	OMIM:615919
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Frontal bossing, Scapular winging, Limb joint contracture, Shoulder flexion cont...	OMIM:620369
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Turricephaly, Telecanthus, Broad hallux, Anteverted nares, Depressed nasal bridge, Tapered finger...	OMIM:620224
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Thin upper lip vermilion, Hypospadias, Blepharophimosis, Metatarsus adductu...	OMIM:611962
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Hematuria, Chemosis, Nephritis	OMIM:614034
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Adnp Syndrome	Urinary incontinence, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue,...	ORPHA:989
Orofaciodigital Syndrome Type 4	Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Depressed nasal ridge, Aplasia/...	ORPHA:2753
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly	OMIM:600151
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Fanconi Anemia	Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Reduced bone mineral density...	ORPHA:84
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Cataract, Absent eyelashes, Flexion contracture, Large fontanelles, ...	ORPHA:90153
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Adenylosuccinase Deficiency	Prominent metopic ridge, Short nose, Anteverted nares, Brachycephaly	OMIM:103050
Peroxisome Biogenesis Disorder 13A (Zellweger)	Dicarboxylic aciduria, Flat occiput, Depressed nasal bridge, Delayed closure of the anterior font...	OMIM:614887
Braddock-Carey Syndrome 2	Microphthalmia, Downslanted palpebral fissures, Cleft palate	OMIM:619981
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Micropeni...	OMIM:134780
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing,...	OMIM:108720
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Long eyelashes, Camptodactyly of finger, Acute rhabdomyolysis	ORPHA:48431
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Hyperlysinemia	Craniosynostosis, Argininuria, Depressed nasal ridge, Dysphagia, Cystinuria, Decreased urine alph...	ORPHA:2203
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia	ORPHA:3469
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Coloboma, Foot oligoda...	OMIM:601357
Peho Syndrome	Epicanthus, Palpebral edema, Anteverted nares, Tapered finger, Flexion contracture, Limitation of...	ORPHA:2836
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Wrist flexion con...	OMIM:121050
Joubert Syndrome 7	Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Ptosis	OMIM:611560
Desmosterolosis	Frontal bossing, Epicanthus, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia...	OMIM:602398
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas...	ORPHA:2578
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Polydactyly, Pallor, Rod-cone dystrophy	OMIM:616307
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Nevus flammeus, Polydactyly, Upper limb asymmetry	ORPHA:231140
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Malabsorption, Flexion contracture, Dry skin, Microcornea, Kera...	OMIM:601675
Monosomy 22	Finger syndactyly, Epicanthus, Wide nose, Single transverse palmar crease, Synophrys, Clubbing, P...	ORPHA:96123
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Aganglionic megacolon, Renal agenesis	ORPHA:2155
White Forelock With Malformations	Finger syndactyly, Epicanthus, Joint hyperflexibility, Dolichocephaly, Clinodactyly of the 5th fi...	ORPHA:2475
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, High palate, Gastroesophageal reflux, Joint laxity, Hypospadias, Antever...	OMIM:619325
Ramos-Arroyo Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Carious teeth, ...	ORPHA:1051
Eem Syndrome	Carious teeth, Finger syndactyly, Absent eyebrow, Ectrodactyly	ORPHA:1897
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Seckel Syndrome 2	Microphthalmia, Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Cofs Syndrome	Microphthalmia, Arthrogryposis multiplex congenita, Camptodactyly of finger	ORPHA:1466
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral ...	OMIM:266810
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Shallow orb...	OMIM:608328
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Redundant neck skin, Redundant skin, Abno...	OMIM:300855
Acromelic Frontonasal Dysplasia	Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Large fontanelles, Brachycephaly...	ORPHA:1827
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Cleft upper lip, Anosmia, Co...	OMIM:147250
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Wide nasal bridge, Nephrocalcinosis, Buphthalmos, High palate, Limb ...	OMIM:618005
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Sandal gap, Short nose, Brachydactyly	OMIM:616459
Atelis Syndrome 2	Frontal bossing, Epicanthus, Remnants of the hyaloid vascular system, Single transverse palmar cr...	OMIM:620185
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Synophrys, Clinodactyly, Gastroesophageal reflux, Broad hallux, Anteverted nar...	OMIM:301044
Marbach-Rustad Progeroid Syndrome	Femur fracture, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Reduced bone...	OMIM:619322
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Micrognathia, Sclerocornea, High...	OMIM:188400
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia	ORPHA:291
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Calcaneal epiphyseal stippling, Thick nasal alae, Broad nasal tip, Hypoplasia of the ma...	ORPHA:79345
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia, Urethrovesical occlusion, Arthrogryposis multiple...	OMIM:226730
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Prominent metopic ridge, Anteverted nares, Prominent nasal bridge, Brachycephaly	OMIM:608688
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narrow palate, Cl...	ORPHA:2554
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Proteinuria, Intestinal malrotation, Hiatus hernia, Hypoplastic philtrum, Bulbou...	OMIM:616682
Retinitis Pigmentosa 89	Hyperautofluorescent retinal lesion, Rod-cone dystrophy, Retinal thinning, Postaxial polydactyly	OMIM:618955
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Gastroesophageal reflux, Bifid uvula, Joint laxity, Anteverted nares, Wi...	OMIM:607812
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary artery s...	ORPHA:2255
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Recurrent urinary tract infections, Cataract, Redundant skin, Wide anterior fontane...	ORPHA:90349
Esophageal Atresia	Barrett esophagus, Renal agenesis, Choanal atresia, Intestinal malrotation, Pyloric stenosis, Lar...	ORPHA:1199
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Epicanthus, Hypospadias, Abnormality of the kidney, Congenital ...	ORPHA:280
Geleophysic Dysplasia 1	Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Coxa valga, Lack of skin ...	OMIM:231050
Jaberi-Elahi Syndrome	Cataract, Sparse eyelashes, Depressed nasal bridge, Joint stiffness, Sparse eyebrow, Talipes equi...	OMIM:617988
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Gastroesophageal ref...	OMIM:300373
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Abn...	ORPHA:251004
Joubert Syndrome 20	4-5 toe syndactyly, Retinopathy, Postaxial polydactyly	OMIM:614970
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation, Cleft palate, Renal cyst	OMIM:611561
D-Bifunctional Protein Deficiency	Osteopenia, Frontal bossing, Epicanthus, Depressed nasal bridge, Micrognathia, Scaphocephaly, Lar...	OMIM:261515
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Depressed nasal bridge, Micrognathia, Long fingers, Brachycephaly, Cleft palate, Upsl...	OMIM:156610
Developmental And Epileptic Encephalopathy 75	Upslanted palpebral fissure, Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Micrognathia, Cleft upper lip, Cleft palate, Buphthalmos, Coloboma, Co...	OMIM:236670
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Malabsorption, Band keratopathy, Enamel hypomineralization, Bicarbon...	ORPHA:47159
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Epicanthus, Depressed nasal bridge, Craniosynostosis, L...	ORPHA:576
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Multiple cafe-au-lait spots, Clino...	ORPHA:1445
Lig4 Syndrome	Epicanthus, Prominent nose, Brachycephaly, Wide nasal bridge, Upslanted palpebral fissure, Astigm...	OMIM:606593
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Splenomegaly, Jaundice, Myopathy, Cholecystitis, Prolonged neonatal jaun...	OMIM:615512
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Ectropion, Urinary bladder inflammation, Enamel hypoplasia, Congenital pylori...	ORPHA:79403
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, High palate...	OMIM:619522
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Meacham Syndrome	Congenital alveolar dysplasia, Aplasia of the right hemidiaphragm, Septate vagina, Male pseudoher...	OMIM:608978
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Cleft upper lip, Epicanthus inversus, Preaxial polydactyl...	OMIM:248340
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Cleft upper lip,...	OMIM:277170
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, High, narrow palate, Synophrys, Coloboma, High palate, Chorioret...	OMIM:619475
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614207
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Large fontanel...	OMIM:166210
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Brachycephaly, Increased susc...	OMIM:610968
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, Prominent metopic ridge, Neurogenic bladder, Epicanthus, Cornea...	ORPHA:488632
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Telecanthus, Anteverted nares, Micrognathia, Broad nasal tip, Wide ante...	OMIM:618548
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Epicanthus, Hypospadias, Depressed nasal bridge, Urolithiasis, Gout, Hyperur...	OMIM:300661
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Ankle clonus, Cataract, Tortuosity of conjunctival vessels, Ptosis	ORPHA:284289
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Telecanthus, Micrognathia, Cleft palate, Platybasia, Sclero...	OMIM:130720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Thick upper lip vermilion, Thin upper lip vermilion, Hypospadias, Severe general...	OMIM:210730
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture	OMIM:619091
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Epicanthus, Anteverted nares, Short hallux, Coxa valga, ...	ORPHA:1517
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse eyelashes, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutane...	OMIM:613573
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Mi...	ORPHA:2879
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Sclerocornea, Mi...	OMIM:609465
Lichen Planopilaris	Pterygium, Abnormal intestine morphology, Skin ulcer	ORPHA:525
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow, Hypoplasti...	OMIM:620047
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Telecanthus, Symblepharon, Absent phalangeal crease, Retrognathia, Sma...	OMIM:611929
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Brachycephaly, Posterior plagiocephaly, High palate, Bifid uvula, Joint la...	OMIM:620330
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Microphthalmia, Inguinal hernia, Biliary tract abnormality	ORPHA:3191
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Abnormality ...	ORPHA:2988
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Anteverted nares,...	ORPHA:1465
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Skin ulcer, Enamel hypoplasia, Corneal pterygium, Amelogenesis imperfecta	OMIM:245660
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Micromelia...	ORPHA:1908
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Epicanthus, Synophrys, Cleft palate, Hepatosplenomegaly, Downslanted palpebral fiss...	OMIM:301066
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ...	OMIM:604292
Srd5A3-Cdg	Coloboma, Palmoplantar keratoderma, Cataract	ORPHA:324737
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ...	ORPHA:400
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Xanthelasma, Pseudobulbar paralysis, Cholelithiasis, Lower limb muscle weak...	OMIM:213700
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Single transverse palmar cre...	OMIM:609128
White-Sutton Syndrome	Ventral hernia, Duplicated collecting system, Inguinal hernia, Abnormality of the gastrointestina...	ORPHA:468678
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak...	ORPHA:565899
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Macroglossia, Coloboma, Megalocornea	ORPHA:370959
Molybdenum Cofactor Deficiency, Complementation Group A	Frontal bossing, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothi...	OMIM:252150
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Cleft soft palate, Esophageal atresia, Microphthalmia, Downslanted palpebral fi...	OMIM:614526
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Redundant neck skin, M...	OMIM:216340
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly	OMIM:615633
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Coloboma, Micropenis, Iris colob...	OMIM:214800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:309583
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose,...	OMIM:618590
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Flexion contracture, Elbow flexion contracture, Recurrent pneumonia, Knee flexion...	OMIM:214150
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Craniorachischisis	Omphalocele, Anal atresia, Congenital diaphragmatic hernia	ORPHA:63260
Senior-Loken Syndrome 9	Retinal dystrophy, Hypoplasia of the femoral head, Macular degeneration, Polydactyly, Rod-cone dy...	OMIM:616629
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Epicanthus, Micrognathia, Flexion contracture, Osteoporosis, Short nose	OMIM:615851
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Gastroesophageal reflux	ORPHA:85277
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Microphthalmia	OMIM:619053
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Leiomyosarcoma, Hepatoblastoma, Nephropath...	ORPHA:116
Silver-Russell Syndrome Due To A Point Mutation	Frontal bossing, Syndactyly, Hypospadias, Short 5th finger, Polydactyly, Ectrodactyly, Microphall...	ORPHA:397590
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Epicanthus, Toe syndactyly, Hypospadias, Short hallux, Abnormal nasal morpholo...	ORPHA:3224
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Ab...	OMIM:271665
Schinzel-Giedion Syndrome	Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, Choanal stenosis, High palate, S...	ORPHA:798
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognath...	OMIM:150230
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Prader-Willi Syndrome	Osteopenia, Syndactyly, Short palm, Narrow nasal bridge, Thin upper lip vermilion, Almond-shaped ...	OMIM:176270
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Promin...	OMIM:617895
Cockayne Syndrome Type 1	Anophthalmia, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy, Conjunctivitis	ORPHA:90321
Fanconi Anemia, Complementation Group S	Epicanthus, Narrow palate, Ovarian neoplasm, Upslanted palpebral fissure, Long eyelashes, Ovarian...	OMIM:617883
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Flexion contracture, Erythema, Intermittent generalized e...	ORPHA:99921
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Progressive flexion contractures, Abnormal lo...	ORPHA:522077
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Absent eyebrow, Everted upper lip vermilion, Sparse eyelashes, Depressed nasal b...	OMIM:305100
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Weill-Marchesani Syndrome 1	Cataract, Depressed nasal bridge, Joint stiffness, Broad metatarsal, Broad skull, Hypoplasia of t...	OMIM:277600
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Broad hallux, Sandal gap, Remnants of the hyaloid vascular syst...	OMIM:300166
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Thin vermilion bord...	OMIM:619869
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Urinary incontinence, Cleft hard palate, Abnormal pupil morphology, Flexio...	ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Synophrys, ...	OMIM:612474
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial...	ORPHA:289157
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Splenic infarction, Hematuria, Choleli...	OMIM:603903
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Bilateral ptosis, Renal hypopl...	OMIM:611376
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Absent th...	ORPHA:392
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Postauricular pit, Cl...	OMIM:113620
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Triphalangea...	ORPHA:857
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Hypospadias, Blepharophimosis, Gastroesophageal reflux, Dysphagia, Vesicoureteral ref...	ORPHA:494344
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Synophrys, Lens coloboma, Microcornea, ...	OMIM:619539
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L...	ORPHA:198
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Block vertebrae, Renal agenesis, Ectopic kidney, Blepharophimosis, ...	OMIM:164210
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Short nose	ORPHA:1389
Paroxysmal Hemicrania	Stiff neck, Palpebral edema, Focal sensory seizure with olfactory features, Rhinitis, Conjunctiva...	ORPHA:157835
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Telecanthus, Camptodactyly of finger, Lip pit, Tapered fi...	ORPHA:1236
Feingold Syndrome 1	Micrognathia, High palate, Anteverted nares, Short thumb, Short toe, Esophageal atresia, 2-3 toe ...	OMIM:164280
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hyperpigmented nevi and streak	OMIM:149000
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary t...	ORPHA:1414
Stromme Syndrome	Accessory spleen, Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Bilateral rena...	OMIM:243605
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion	ORPHA:411777
Coach Syndrome 2	Coloboma, Hyperechogenic kidneys, Chorioretinal coloboma	OMIM:619111
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia, High palate, Cleft palate	ORPHA:1135
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Dental malocclusion, Contractures of the larg...	ORPHA:329178
Bnar Syndrome	Anteriorly placed anus, Anal stenosis, Renal agenesis	ORPHA:217266
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, Tented upper lip vermilion, Single transverse palmar ...	ORPHA:96334
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Palmoplantar hyperkeratosis, Chorioretinal coloboma, Clinodactyly of the 5th finge...	OMIM:280000
Coffin-Siris Syndrome 11	Prominent metopic ridge, Frontal bossing, Bulbous nose, Depressed nasal bridge	OMIM:618779
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Coloboma, Gastroesophageal reflux, Vesicoureteral reflux, Joint laxity, Hypospadias, Broad hallux...	ORPHA:353281
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma, Thin upper lip vermilion	OMIM:613576
X Small Rings	Joint laxity, Thin upper lip vermilion, Epicanthus, Toe syndactyly, Anteverted nares, Tapered fin...	ORPHA:96201
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Warburg Micro Syndrome 1	Ptosis, Microphthalmia, Cryptorchidism	OMIM:600118
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl...	OMIM:305600
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Turricephaly, Hypoplastic scapulae, Hypoplastic nasal bri...	OMIM:200600
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ...	OMIM:129900
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Postaxial polydactyly	OMIM:615985
Spinocerebellar Ataxia, Autosomal Recessive 10	Tortuosity of conjunctival vessels	OMIM:613728
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnor...	ORPHA:1596
Meckel Syndrome, Type 1	Micrognathia, Clinodactyly, Lobulated tongue, Iris coloboma, Syndactyly, Cleft upper lip, Postaxi...	OMIM:249000
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exag...	OMIM:312870
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Frontal bossing, Anal stenosis, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, 2...	OMIM:620029
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Congenital diaphragmatic hernia, Cleft palate, Pulmonary hypoplasia, Polycys...	OMIM:616546
Bardet-Biedl Syndrome 6	Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly	OMIM:605231
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Craniosynostosis, Erythema, Palmoplantar keratoderma, Smooth tongue, Enamel hypo...	ORPHA:79396
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Urinary incontinence, Cleft hard palate, Flexion contracture, Calcaneovalg...	ORPHA:261537
Congenital Toxoplasmosis	Elevated hepatic transaminase, Microphthalmia, Jaundice, Hepatomegaly	ORPHA:858
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Wide nose, Thin upper lip vermilion, Sandal gap, Broad hallux, Synophrys, Brachy...	OMIM:616078
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol...	OMIM:607626
Sclerosteosis 1	Mandibular prognathia, Frontal bossing, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, 2...	OMIM:269500
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Tolchin-Le Caignec Syndrome	Thick eyebrow, Arachnodactyly, Hooded eyelid, Micrognathia, Prominent nose, Scaphocephaly, Oxycep...	OMIM:618971
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Frontal bossing, Toe syndactyly, Hypermelanotic macule, Joint hyperflexibility...	ORPHA:60040
Immunodeficiency 49	Natal tooth, Micrognathia, Cutis laxa, Upslanted palpebral fissure, Wormian bones, Short palpebra...	OMIM:617237
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p...	OMIM:619127
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Brachycephaly, Cutis laxa, W...	OMIM:309400
Noonan Syndrome 14	Scapular winging, Epicanthus, Lacrimal duct stenosis, Prominent nasal bridge, Sparse eyebrow, Hig...	OMIM:619745
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent upper and lower respiratory tract infections	ORPHA:171876
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Hamartoma of tongue, Esophageal diverticulum, Cleft palate, Pulmonary hypopla...	OMIM:617925
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Retinal coloboma, Chorioretinal coloboma	ORPHA:2921
Temtamy Syndrome	Microphthalmia, Telecanthus	ORPHA:1777
Microlissencephaly-Micromelia Syndrome	Palpebral edema, Bilateral single transverse palmar creases, Micromelia, Fetal pyelectasis, Short...	ORPHA:50810
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Thin upper lip vermilion, Hypospadias, Single transvers...	ORPHA:435938
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Hypoplasi...	ORPHA:1512
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th...	ORPHA:447877
Molybdenum Cofactor Deficiency, Complementation Group B	Frontal bossing, Xanthine nephrolithiasis, Increased urinary sulfite level, Lens luxation, Ectopi...	OMIM:252160
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Lens coloboma, Renal hypoplasia, Small thenar eminence, Umbilical hernia, Joint ...	OMIM:618914
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Redundant skin, High, narrow palate, Osteoarthriti...	ORPHA:286
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Symblepharon, Phimosis, Carious teeth, Corneal erosion, Ureth...	OMIM:173650
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Microphthalmia...	ORPHA:335
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Abnormality...	ORPHA:480520
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Cleft palate, Upslanted palpebral fi...	OMIM:620098
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Epicanthus, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, Hig...	OMIM:616449
Joubert Syndrome 17	Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa...	OMIM:224690
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Metopic synostosis	OMIM:620024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Buphthalmos, Coloboma, Everted lower lip vermilion, Pallor, Opacification...	OMIM:253280
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicourete...	ORPHA:391641
Achard Syndrome	Joint laxity, Broad skull, Brachycephaly	OMIM:100700
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormality...	ORPHA:290
Joubert Syndrome 27	Retinopathy, Polydactyly	OMIM:617120
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Prominent nose, Brachycephaly, High palate, Joint laxity,...	ORPHA:480880
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Micrognathia, High, narrow palate, Brachycephaly...	ORPHA:96149
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Short nose	OMIM:256600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Upslanted palpebral fissure, Astigmatism, Short nose, Joint hyperm...	ORPHA:293948
Toriello-Carey Syndrome	Telecanthus, Aganglionic megacolon, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Short n...	ORPHA:3338
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet,...	OMIM:278250
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ul...	OMIM:617866
Sunct Syndrome	Palpebral edema, Facial erythema, Nasal congestion, Conjunctival hyperemia, Ptosis	ORPHA:57145
Poland Syndrome	Duplicated collecting system, Hypospadias, Congenital diaphragmatic hernia, Renal hypoplasia/apla...	ORPHA:2911
Robinow Syndrome	Micrognathia, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Multicystic kidney ...	ORPHA:97360
Mend Syndrome	Sacral dimple, Redundant neck skin, Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndacty...	OMIM:300960
Fucosidosis	Frontal bossing, Wide nose, Petechiae, Depressed nasal bridge, Coxa valga, Flexion contracture, T...	OMIM:230000
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Intestinal malrotation, Con...	OMIM:618280
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
1P36 Deletion Syndrome	Hypoplasia of penis, Depressed nasal ridge, Brachycephaly, Renal cyst, Gastroesophageal reflux, C...	ORPHA:1606
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Inguinal hernia, Hydroureter, Hypospadias, Intestinal malrotati...	OMIM:135900
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clin...	OMIM:616145
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wide ...	OMIM:616920
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Cataract, Flat nasal alae, Ker...	ORPHA:910
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Proximal placement of thumb, Highly arched eyebrow, 2-3 toe syndactyly,...	OMIM:619121
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly	OMIM:607131
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Congenital diaphragmatic hernia, Emphysema, Narrow palpebral fissure, High palat...	OMIM:614437
Vacterl With Hydrocephalus	Inguinal hernia, Anophthalmia, Femoral hernia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:3412
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Elbow extension contracture, Ulnar deviation of the hand, Anteverted na...	OMIM:616503
Lissencephaly 8	Microphthalmia, Skeletal muscle atrophy	OMIM:617255
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bri...	ORPHA:1942
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Unilateral renal dysplasia, Bifid uvula, Median cleft lip and...	OMIM:184705
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Blepharophimosis, Downslanted palp...	OMIM:300712
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Thick upper lip vermilion, Anteverted nares, Mydriasis, Broad ...	OMIM:619727
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Epicanthus, Cataract, Depressed nasal bridge, Micrognathia, Abnormality of...	ORPHA:85276
Meckel Syndrome, Type 7	Inguinal hernia, Multiple glomerular cysts, Multicystic kidney dysplasia, Portal hypertension, Pa...	OMIM:267010
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Enlargement of the ankles, Flat occiput, Recurrent fractures, Delayed epiphyseal...	OMIM:600081
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Abnormal lung morphology, Flexion c...	ORPHA:35173
Iniencephaly	Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita,...	ORPHA:63259
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Narrow joint spaces of the elbow, Frontal bossing, Syndactyly, Hypospadias, Delayed closure of th...	ORPHA:96182
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati...	OMIM:618805
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S...	OMIM:619638
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Abnormality of the fontanelles or cranial sutur...	ORPHA:2108
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Flexion contracture, Cataract	OMIM:615249
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis	OMIM:277450
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Renal hypoplasia/aplasia, Hand olig...	ORPHA:1788
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter...	OMIM:119500
Adult Syndrome	Finger syndactyly, Toe syndactyly, Nasolacrimal duct obstruction, Skin ulcer, Melanocytic nevus, ...	ORPHA:978
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Flexio...	ORPHA:505248
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Microphthalmia, Syndromic 3	Vertebral fusion, Frontal bossing, Cataract, Hypospadias, Sclerocornea, Esophageal atresia, Colob...	OMIM:206900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Gastroesophageal reflux	ORPHA:542306
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer, Lisch nodules	OMIM:619097
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Diets-Jongmans Syndrome	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Umbilical hernia, ...	OMIM:618846
Joubert Syndrome 21	Anophthalmia, Optic atrophy, Megalopapilla, Retinopathy, Ptosis	OMIM:615636
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Osteoarthr...	ORPHA:666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia, Muscular dystrophy	OMIM:615181
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Long palpebral fissure, Ptosis, Postaxial polydactyly, Abnormally large globe	OMIM:603387
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse eyelashes, Carious teeth, Esophageal stricture, Osteoporosis, Nasolacrimal duct obstructio...	OMIM:224230
Warburg Micro Syndrome 4	Decreased muscle mass, Cryptorchidism, Flexion contracture, Microphthalmia, Micropenis, Decreased...	OMIM:615663
Meckel Syndrome	Bowing of the long bones, Anophthalmia, Abnormal chorioretinal morphology, Preaxial hand polydact...	ORPHA:564
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Renal cy...	ORPHA:79303
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Depressed nasal bri...	ORPHA:95716
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cleft palate, Multiple bladder diverticula, Blepharophimosis, Microphthalmia, Ptosis	ORPHA:2728
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Pallor	OMIM:615631
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract...	ORPHA:234
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Mi...	ORPHA:77298
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Renal cyst	OMIM:263630
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Intestinal malrotation, Asplenia, Cryptorchidism, A...	ORPHA:99776
Tetrasomy 9P	Myositis, Biliary atresia, High palate, Micropenis, Bifid uvula, Amelogenesis imperfecta, Absent ...	ORPHA:3310
Sotos Syndrome	Ureteral duplication, No permanent dentition, Flexion contracture, Gastroesophageal reflux, Vesic...	ORPHA:821
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Brachycephaly, Parietal bossing, Genu varum, Long toe, Absent ...	OMIM:264090
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, High palate, Blepharophimosis, Microphthalmia, Epicanthus inv...	OMIM:110100
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Marden-Walker Syndrome	Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H...	ORPHA:2461
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Hepatoblastoma, Stomach cancer...	ORPHA:733
Cadds	Short nose, Cataract, Micrognathia	ORPHA:369942
Oculofaciocardiodental Syndrome	Intestinal malrotation, Highly arched eyebrow, Submucous cleft hard palate, Cleft palate, Flexion...	ORPHA:2712
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con...	ORPHA:95455
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Congenital Ptosis	Unilateral ptosis, Congenital Horner syndrome, Prominent metopic ridge, Telecanthus, Epicanthus i...	ORPHA:91411
Refsum Disease	Skeletal muscle atrophy, Renal insufficiency, Splenomegaly, Microphthalmia, Ptosis	ORPHA:773
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Absent gallbladder, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micro...	ORPHA:3186
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Urinary incontinence	OMIM:615284
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Absent lacrimal punctum, Sparse eyelashes, Abnormal...	ORPHA:1071
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Delayed closure of the anterior fontanelle, Dislocated radial head	OMIM:605274
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Micropenis, Cloverleaf s...	OMIM:201750
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent...	OMIM:616229
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Aplasia/Hypoplasia of the skin, ...	ORPHA:1556
Oculoauricular Syndrome	Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ...	OMIM:612109
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Epicanthus, Hypospadias, Cryptorchidism, Cleft palate, Umbilical hernia, Microph...	ORPHA:2505
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Bilateral ptosis, Cleft palate, Upslanted palpeb...	ORPHA:163979
Silver-Russell Syndrome	Hypospadias, Sandal gap, Micrognathia, Upper limb asymmetry, Abnormal appendicular skeleton morph...	ORPHA:813
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Narrow nasal ridge, Joint stiffness, Coxa valga, Micrognathia...	OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Large fontanelles, Osteolysis, O...	ORPHA:90154
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Micromelia, Renal hypoplasi...	ORPHA:3015
Caudal Regression Syndrome	Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Ambiguous genit...	ORPHA:3027
Grange Syndrome	Syndactyly, Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures...	OMIM:602531
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Intestinal malrotation, Gastrointestinal atresia, Hepatitis, Intesti...	ORPHA:436252
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Single transverse palmar cre...	ORPHA:521426
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Decreased ...	ORPHA:273
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation, Cleft palate, Renal cyst	OMIM:611134
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ...	OMIM:136140
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Oligoarthritis, Polyarticular arthritis, Conjunctivitis, Conjunctiva...	OMIM:142680
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypoplasia/aplasia, ...	ORPHA:2166
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Thin upper lip vermilion, Flat occiput, Anteverted nares, Broad na...	OMIM:300966
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Horseshoe kidney, Upslanted palpebral f...	OMIM:157800
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Anteverted nares, Highly arched eyebrow, Micrognathia, Cleft soft palate, Wide nasal...	ORPHA:2282
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Facial hypotonia, Abnormal eyebrow morphology	ORPHA:85194
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Upslanted palpebral fissure, Blepharophimosis, Microphthalmia, Anal atresia	ORPHA:1352
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnorm...	OMIM:302960
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Coloboma, Bowing of the long bones, Functional intestinal ...	ORPHA:199276
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Hereditary Spherocytosis	Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis	ORPHA:822
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Thin eyebrow, Sparse or absent eyelashes	ORPHA:1433
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Optic nerve hypoplasia, Cryptorchidism, Aortopulmonary window, Pulmonary artery hyp...	OMIM:620025
Zygomycosis	Gastrointestinal hemorrhage, Renal insufficiency, Gastritis, Epistaxis, Hematemesis, Osteolysis, ...	ORPHA:73263
Basal Cell Nevus Syndrome 1	Skin tags, Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of hand bone...	OMIM:109400
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Abnormal large intestine morp...	ORPHA:109
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Upslanted palpebral fissure, Epicanthus, Synophrys, Postaxial polydactyly	OMIM:615824
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Renal neoplasm, Testicular neoplasm, Rhabdomyosarcoma, Ovarian neoplasm...	ORPHA:524
Pseudotrisomy 13 Syndrome	Omphalocele, Renal agenesis, Cryptorchidism, Renal hypoplasia, Upslanted palpebral fissure, Micro...	OMIM:264480
Cerebrotendinous Xanthomatosis	Abnormal eyelid morphology, Tendon xanthomatosis, Abnormal lung morphology, Distal amyotrophy, Pr...	ORPHA:909
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium, Joint contracture, Cleft palate, Micrognathia	OMIM:225790
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid...	OMIM:620099
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Neoplasm of the colon, Gastr...	ORPHA:440437
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Optic atrophy, Yellow/white lesions of the retina, Polydactyly, Cherry r...	ORPHA:93400
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Craniosynosto...	OMIM:610168
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Anal atresia	OMIM:617244
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Facial palsy, Unilateral microphthalmos	OMIM:615085
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Abnormal lung lobation, Aplasia/Hypoplasia o...	ORPHA:3301
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disea...	OMIM:617729
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Upslanted palpebral fissur...	OMIM:301030
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodactyly	OMIM:614815
Monosomy 18P	Microphthalmia, Epicanthus, Cleft palate, Ptosis	ORPHA:1598
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Everted lowe...	OMIM:608013
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Splenomegaly, Esophageal varix, Abnormal pulmonary interstitial morpho...	ORPHA:2072
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Conjunctival hamartoma, Skin ulcer	ORPHA:312
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Narrow nasal ridge, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalan...	OMIM:130050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Microphthalmia	ORPHA:93267
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Eosinophilic infiltration of the es...	OMIM:609192
Deeah Syndrome	Prominent nasal tip, Epicanthus, Malabsorption, Short nose, Narrow palate, High palate, Dysphagia...	OMIM:619004
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Micrognathia, Recurrent upper respiratory tract infections, Hematochezia, Coloboma, Pro...	OMIM:618183
Mandibuloacral Dysplasia	Narrow nose, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of the l...	ORPHA:2457
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Chorioretinal coloboma, Triphalangeal thumb, Vesicoure...	OMIM:107480
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Absent or minimally ossified vertebral...	ORPHA:93271
Diamond-Blackfan Anemia	Epicanthus, Renal agenesis, Hypospadias, Depressed nasal bridge, Absent thumb, Micrognathia, Shor...	ORPHA:124
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduc...	ORPHA:667
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology	ORPHA:529799
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Eosi...	OMIM:613795
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex...	ORPHA:2920
Tularemia	Abnormal nasopharyngeal adenoid morphology, Conjunctival hyperemia, Conjunctivitis	ORPHA:3392
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Meckel diverticulum, Pyloric stenosis, Ectropion	OMIM:616395
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Hooded eyelid, Anterior pituitary hypoplasia, Fetal pyelectasis, Epicanthu...	OMIM:619841
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna...	OMIM:601803
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret...	OMIM:609053
Renal Agenesis, Bilateral	Epicanthus, Renal agenesis, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morpholog...	ORPHA:1848
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Striae distensae, Arachnodactyly, P...	ORPHA:284984
Limb-Mammary Syndrome	Syndactyly, Absent lacrimal punctum, Toe syndactyly, Chronic irritative conjunctivitis, Sparse ey...	ORPHA:69085
Adams-Oliver Syndrome 2	Microphthalmia, Narrow palpebral fissure, Limb hypertonia	OMIM:614219
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,...	OMIM:619879
Johanson-Blizzard Syndrome	Joint laxity, Absent lacrimal punctum, Colonic diverticula, Hypospadias, Single transverse palmar...	OMIM:243800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Epicanthus, Abnormal acetabulum morphology, Retinal dystrophy, Redundant neck skin, Postaxial pol...	ORPHA:397715
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the skin, Absent toe, Split hand, Absent ...	ORPHA:974
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Epicanthus, Exocrine pancreatic insufficiency, Elevated circulating alanine a...	OMIM:618500
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Recurrent...	OMIM:610682
Limb Body Wall Complex	Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia, Abnormality of the kidney, Clef...	ORPHA:2369
Mowat-Wilson Syndrome	Mandibular prognathia, Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Fle...	ORPHA:2152
Fanconi Anemia, Complementation Group F	Pneumonia, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney, ...	OMIM:603467
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Joubert Syndrome 33	Syndactyly	OMIM:617767
Lynch Syndrome	Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Gastrointestinal hemor...	ORPHA:144
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Synophrys, Depressed nasal ridge, Brachycephaly, High palate, Gastroesophageal re...	OMIM:607872
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Bladder diverticulum, Jo...	OMIM:617821
Osteogenesis Imperfecta, Type Xxi	Wormian bones, Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Ohdo Syndrome, X-Linked	Inguinal hernia, Epicanthus, Hiatus hernia, Sparse eyebrow, Cryptorchidism, High palate, Blepharo...	OMIM:300895
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Retina...	OMIM:209900
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis	OMIM:618775
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Ureteral stenosis, Hypoplasti...	OMIM:309350
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Epicanthus, Rhabdomyosarcoma, Stomach cancer,...	ORPHA:1052
Kapur-Toriello Syndrome	Camptodactyly of finger, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormality of the...	OMIM:244300
Sarcoidosis	Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormal nasal mucosa morphology,...	ORPHA:797
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Curly eyelashes, Cleft palate, Submucous cleft of ...	OMIM:301022
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Camptodactyly of finger	OMIM:610756
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Narrow palpebral fissure, Ptosis	OMIM:615145
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Epicanthus, Proteinuria, Hiatus hernia, Hypopla...	OMIM:251300
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Delayed closure of...	ORPHA:2834
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Short 4th metacarpal, Short 5th metaca...	OMIM:169400
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose	OMIM:616430
Temtamy Syndrome	Microphthalmia, Downslanted palpebral fissures, Highly arched eyebrow	OMIM:218340
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef...	ORPHA:158687
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Phakomatosis Pigmentokeratotica	Renal transitional cell carcinoma, Unilateral renal hypoplasia, Coloboma, Hemiatrophy, Hypophosph...	ORPHA:2874
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Vater/Vacterl Association	Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalang...	OMIM:192350
Frontorhiny	Pericallosal lipoma, Epicanthus, Camptodactyly of finger, Cleft palate, Microphthalmia, Hypopitui...	ORPHA:391474
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Atypical scarring o...	ORPHA:60030
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseu...	ORPHA:2044
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Knee dislocation, Coloboma, Gastroesophageal reflux, Syndactyly, Anteverted nares, De...	OMIM:619534
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Flexion contracture, Optic nerve hypoplasia	OMIM:614833
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Esophageal atresia,...	OMIM:227646
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy	OMIM:616562
Lymphedema-Distichiasis Syndrome	Ectropion, Cleft palate, Conjunctivitis, Chylothorax, Microphthalmia, Distichiasis, Ptosis	OMIM:153400
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion contracture, Knee flexion contra...	OMIM:610758
Orofaciodigital Syndrome V	Unilateral ptosis, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Optic disc colo...	OMIM:174300
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Bilateral cleft lip and...	OMIM:618874
Restrictive Dermopathy	Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Scaling skin, Decrea...	ORPHA:1662
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Epicanthus, Renal agenesis, Ectopic kidney, Cryptorchidism, Flexion...	OMIM:227645
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Intestinal malrotation	ORPHA:2328
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis	OMIM:601374
Ring Chromosome 13 Syndrome	Anal atresia, Epicanthus, Hypoplasia of the gallbladder, Hypospadias, High palate, Abnormal renal...	ORPHA:96176
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren...	ORPHA:565
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Syndactyly, Hypospadias, Single transverse palmar crea...	ORPHA:1708
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion	OMIM:278730
Kanzaki Disease	Depressed nasal bridge, Increased urinary O-linked sialopeptides, Thick lower lip vermilion, Lip ...	OMIM:609242
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Anteverted nares, Genu varum, Midline defect of the nose, Short hard palate, P...	ORPHA:1969
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Adams-Oliver Syndrome 5	Cutis marmorata telangiectatica congenita, Syndactyly, Aplasia cutis congenita, Brachydactyly	OMIM:616028
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis, Ankyloglossia	OMIM:602361
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium	OMIM:618052
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Holoprosencephaly 9	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Dural Sinus Malformation	Chemosis	ORPHA:97339
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Rod-cone dystrophy, Polydactyly	OMIM:615989
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Rectal abscess, Conjunctiv...	OMIM:601495
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Long toe, ...	ORPHA:3455
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism	OMIM:601794
Cousin Syndrome	Cleft palate, Narrow palpebral fissure, Camptodactyly, Blepharophimosis, Microphthalmia, Microglo...	OMIM:260660
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Cleft palate, Buphthalmos, Skeletal muscle hypert...	OMIM:613150
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism	ORPHA:363741
Dyskeratosis Congenita, X-Linked	Cataract, Hypospadias, Sparse eyelashes, Phimosis, Carious teeth, Esophageal stricture, Urethral ...	OMIM:305000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan...	OMIM:208500
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Aspartylglucosaminuria	Mandibular prognathia, Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Cari...	ORPHA:93
Oeis Complex	Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli...	OMIM:258040
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger,...	ORPHA:464
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morphology, Neoplasm o...	ORPHA:77293
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Keratoconjunctivitis sicca, Recurrent respiratory infections	ORPHA:1806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Muscular dystrophy, Increased variability in muscle fiber diameter	OMIM:616538
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho...	OMIM:227650
Kinsship Syndrome	Sacral dimple, Single transverse palmar crease, Coxa valga, Synophrys, Hip dislocation, Fibular h...	OMIM:619297
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Derm...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Derm...	ORPHA:99228
Monosomy X	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Derm...	ORPHA:99226
Turner Syndrome	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Derm...	ORPHA:881
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Ritscher-Schinzel Syndrome 3	Microphthalmia, Downslanted palpebral fissures, Highly arched eyebrow	OMIM:619135
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:90674
Malakoplakia	Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplasm of the r...	ORPHA:556
Bardet-Biedl Syndrome 20	Papilledema, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Retinal vascu...	OMIM:619471
Cirrhotic Cardiomyopathy	Conjunctival icterus	ORPHA:57777
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux	OMIM:120200
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Hypospadias, Synophrys, Cleft palate, Upslanted palpebral fissure, Ureterocele, Bleph...	OMIM:616734
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Osteomyelitis, Glomerulonephritis, Hemolytic-uremic syndrome,...	ORPHA:2968
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia	OMIM:600901
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Syndactyly, Clinodactyly, Osteoporosis	ORPHA:2169
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, High palate, Pancreatic aplasia	ORPHA:556955
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis...	OMIM:241410
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary b...	OMIM:609049
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C...	ORPHA:454840
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Depressed nasal bridge, Aminoaciduria, High palate	OMIM:614520
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux...	ORPHA:534
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Corneal scarring	OMIM:212550
Ring Chromosome 12 Syndrome	Syndactyly, Abnormal 5th finger morphology, Glandular hypospadias, Symphalangism of the thumb, Cl...	ORPHA:1439
Trichinellosis	Trismus, Anisocoria, Conjunctivitis, Dysphagia, Conjunctival hyperemia	ORPHA:863
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,...	ORPHA:79404
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Bloom Syndrome	Syndactyly, Prominent nose, Recurrent upper respiratory tract infections, Agenesis of maxillary l...	OMIM:210900
Fucosidosis	Hepatomegaly, Decreased muscle mass, Lipoatrophy, Abnormality of the gallbladder, Mucopolysacchar...	ORPHA:349
Phacoanaphylactic Uveitis	Hypopyon, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Pseudoph...	ORPHA:209959
Geleophysic Dysplasia 2	Thin upper lip vermilion, Joint stiffness, Limitation of joint mobility, Cone-shaped epiphysis, S...	OMIM:614185
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p...	OMIM:236700
Faciocardiomelic Syndrome	Telecanthus, Slender long bone, Polydactyly, Hypoplastic pelvis, Short eyelashes, Ptosis	OMIM:612731
Hydrolethalus Syndrome 1	Omphalocele, Accessory spleen, Hypospadias, Abnormal lung lobation, Cleft palate, Stillbirth, Adr...	OMIM:236680
Amoebiasis Due To Free-Living Amoebae	Stiff neck, Skin ulcer, Intrarenal abscess, Hyposmia, Corneal perforation, Conjunctival hyperemia...	ORPHA:68
Cowden Syndrome	Abnormal penis morphology, Cataract, Abnormality of the kidney, Bone cyst, Furrowed tongue, Hamar...	ORPHA:201
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Timothy Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Cutaneous syndactyly	OMIM:601005
Lipodystrophy, Familial Partial, Type 7	Cataract, Polyuria, Narrow nasal ridge, Facial wrinkling, Large fontanelles, Developmental catara...	OMIM:606721
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormality of the kidney, Abnormal morphology of bony orbit of skull, Abnormal ...	ORPHA:449563
Joubert Syndrome 2	Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Microphthalmia	OMIM:608091
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Esophageal spasms, Conjunctival icterus, Odyno...	ORPHA:447
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Malabsorption, Cleft palate, Multiple lipomas, Gastroesophag...	ORPHA:50
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Epicanthus, Absent nipple, Aplasia of the thymus, Facial palsy,...	OMIM:620186
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia	ORPHA:240071
Otodental Syndrome	Microphthalmia, Lens coloboma, Abnormal dental enamel morphology	ORPHA:2791
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Recurrent urinary tract infections, Intestinal ma...	OMIM:613658
Rodrigues Blindness	Microphthalmia	OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Microphthalmia, Congenital...	OMIM:253800
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, Elevated hepat...	OMIM:619991
Cntnap2-Related Developmental And Epileptic Encephalopathy	Downslanted palpebral fissures, Preaxial polydactyly	ORPHA:163681
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:226307
Rabson-Mendenhall Syndrome	Retinopathy, Dry skin, Polydactyly, Lichenoid skin lesion	ORPHA:769
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Scarring alopecia of scalp, Unilateral narrow palpebral fissure, Enamel hypoplasia	OMIM:618727
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Recurrent pneumonia, Rectal abscess, Cellulitis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Recurrent pneumonia, Rectal abscess, Cellulitis	OMIM:233710
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Epicanthus, Supernumerary nipple, Cryptorchidism, Umbilical hernia, High palate,...	OMIM:613884
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Rectal abscess, Cell...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Recurrent pneumonia, Rectal abscess, Cellulitis	OMIM:233690
Joubert Syndrome 39	Retinal dystrophy, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia, Thyroid C cell hyperplasia	OMIM:300952
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Polycystic ovaries, Cleft palate, Microphthalmia, Congenital aphakia, P...	ORPHA:137675
Mowat-Wilson Syndrome	Hypospadias, Abnormality of the kidney, Pulmonary artery sling, Supernumerary nipple, Aganglionic...	OMIM:235730
Peroxisome Biogenesis Disorder 4B	Short nose, Single transverse palmar crease, Ureterocele	OMIM:614863
Legius Syndrome	Multiple cafe-au-lait spots, Diaphyseal dysplasia, Xanthelasma, Polydactyly, Lisch nodules, Clino...	ORPHA:137605
Mend Syndrome	Telecanthus, Cryptorchidism, Cleft palate, Upslanted palpebral fissure, High palate, Microphthalm...	ORPHA:401973
Phace Association	Horner syndrome, Microphthalmia, Optic nerve hypoplasia, Lingual thyroid	OMIM:606519
Plague	Hematemesis, Abnormality of the elbow, Enterocolitis, Skin ulcer, Arthritis, Inflammation of the ...	ORPHA:707
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long ...	OMIM:617088
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
Aicardi Syndrome	Hepatoblastoma, Hiatus hernia, Recurrent pneumonia, Cleft palate, Lipoma, Microphthalmia, Sparse ...	OMIM:304050
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Myhre Syndrome	Cryptorchidism, Generalized muscle hypertrophy, Cleft palate, Skeletal muscle hypertrophy, Narrow...	OMIM:139210
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly, Ptosis	ORPHA:17
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia, Muscular dystrophy	OMIM:614643
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Cryptorchidism, Bicarbonaturia, ...	OMIM:309000
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph...	OMIM:619525
Incontinentia Pigmenti	Hypoplasia of the fovea, Scarring, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Mic...	OMIM:308300
Linear Nevus Sebaceus Syndrome	Microphthalmia, Telecanthus, Adenoma sebaceum	ORPHA:2612
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidi...	OMIM:133540
Orofaciodigital Syndrome Xiv	Telecanthus, Broad hallux, Retinitis, Postaxial hand polydactyly, Optic disc coloboma, Preaxial p...	OMIM:615948
Medulloblastoma	Adenomatous colonic polyposis, Delayed cranial suture closure	ORPHA:616
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Rectal abscess	OMIM:608203
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Neoplas...	ORPHA:252183
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden...	ORPHA:1359
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Ectopic thyroid, Microp...	ORPHA:42775
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cleft palate, High, narrow palate	ORPHA:2714
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Renal insufficiency, Odynophagia, Arthritis, Conjuncti...	ORPHA:99826
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Sacral Defect With Anterior Meningocele	Rectal abscess, Neurogenic bladder, Sacral lipoma, Urinary retention	OMIM:600145
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Rectal abscess, Skin ulcer	OMIM:116920
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia	OMIM:127000
Adams-Oliver Syndrome 1	Microphthalmia, Pulmonary artery stenosis, Cleft palate, Supernumerary nipple	OMIM:100300
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Septo-optic dysplasia, Abnormal digit morphology, Optic nerve hypoplasia	ORPHA:95494
Holoprosencephaly 1	Microphthalmia, Micropenis, Median cleft lip and palate	OMIM:236100
Leptospirosis	Cellular urinary casts, Conjunctival hyperemia, Acute kidney injury	ORPHA:509
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Microphthalmia, Bifid uvula, Anterio...	OMIM:157170
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Cryptorchidism	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Facial paralysis	OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Frem1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Frem1.

No publications found that use IMPC mice or data for Frem1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Frem1^{tm27(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Frem1^{tm27(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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