Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ptch1 MGI:105373

Gene Summary

Name:

patched 1

Synonyms:

wig, Ptc, Patched 1, A230106A15Rik, Ptc1

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.

No results meet the p-value threshold

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 Ptch1 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 Ptch1 (11 diseases)
Human diseases predicted to be associated with Ptch1 (2682 diseases)

The table below shows human diseases associated to Ptch1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Rhabdomyoma, Palmar pits, Cardiac fibroma, Abnormal sternum morphology, Od...	OMIM:109400
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Basal Cell Carcinoma, Susceptibility To, 1	Basal cell carcinoma	OMIM:605462
Gorlin Syndrome	Vertebral fusion, Frontal bossing, Arachnodactyly, Hypogonadotropic hypogonadism, Hypertelorism, ...	ORPHA:377
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Ethmoidal encephalocele	ORPHA:280195
Holoprosencephaly 7	Omphalocele	OMIM:610828
Semilobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:93924
Microform Holoprosencephaly	Tented upper lip vermilion, Orofacial cleft, Cleft palate, Short philtrum, Solitary median maxill...	ORPHA:280200

The table below shows human diseases predicted to be associated to Ptch1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Incisors, Rotation Of Upper Central	Rotated maxillary central incisors	OMIM:147350
Diastema, Dental Medial	Diastema, Widely-spaced maxillary central incisors	OMIM:125900
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Nondisjunction	Decreased fertility	OMIM:158250
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Spermatogenic Failure 17	Male infertility	OMIM:617214
Rhabdoid Tumor Predisposition Syndrome 1	Medulloblastoma, Choroid plexus carcinoma	OMIM:609322
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Spermatogenic Failure 12	Azoospermia, Infertility	OMIM:615413
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Adrenocortical Carcinoma, Hereditary	Adrenocortical carcinoma, Choroid plexus carcinoma	OMIM:202300
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Medulloblastoma	Medulloblastoma	OMIM:155255
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Glioma Susceptibility 1	Glioblastoma multiforme, Astrocytoma, Ependymoma	OMIM:137800
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Taurodontism	Taurodontia	OMIM:272700
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ...	ORPHA:276399
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Generalized hirsutism, Sarcoma	ORPHA:626
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom...	ORPHA:247806
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla...	OMIM:175100
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Rhabdomyoma, Palmar pits, Cardiac fibroma, Abnormal sternum morphology, Od...	OMIM:109400
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma	OMIM:180295
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Bardet-Biedl Syndrome 11	Polydactyly, Obesity	OMIM:615988
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Bardet-Biedl Syndrome 14	Polydactyly, Obesity	OMIM:615991
Gardner Syndrome	Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility	OMIM:136580
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Bardet-Biedl Syndrome 13	Polydactyly, Obesity	OMIM:615990
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Omphalocele	Omphalocele	ORPHA:660
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Obesity, Brachydactyly	OMIM:615983
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Neurofibromatosis, Type I	Astrocytoma, Rhabdomyosarcoma, Spina bifida, Pectus excavatum, Aqueductal stenosis, Hydrocephalus...	OMIM:162200
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Turcot Syndrome With Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi...	ORPHA:99818
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Fanconi Anemia, Complementation Group N	Short thumb, Nephroblastoma, Medulloblastoma, Neuroblastoma	OMIM:610832
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly...	ORPHA:1520
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Seba...	OMIM:135150
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Familial Adenomatous Polyposis	Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal ...	ORPHA:294975
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Caudal Appendage-Deafness Syndrome	Cryptorchidism, Abnormal digit morphology, Caudal appendage	ORPHA:1123
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand poly...	ORPHA:3098
Osteomesopyknosis	Infertility	OMIM:166450
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Front...	OMIM:600325
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Summitt Syndrome	Syndactyly, Obesity	OMIM:272350
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta, Hama...	ORPHA:64754
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Medulloblastoma	Cerebellar calcifications, Medulloblastoma, Adenomatous colonic polyposis, Spinal cord tumor, Cer...	ORPHA:616
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Clinodactyly	OMIM:615984
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Hypertelorism, Dolichocephaly, Cryptorchidism, Kyphosis, Brachycepha...	OMIM:615433
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Hypertelorism, Cryptorchidism, Unilambdoid synostosis, Brachycephal...	OMIM:618577
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251639
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251636
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Blue Rubber Bleb Nevus	Rectal prolapse, Volvulus, Intestinal bleeding, Hemangioma, Intussusception, Cerebellar medullobl...	OMIM:112200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Bardet-Biedl Syndrome 10	Polydactyly, Obesity	OMIM:615987
Non-Distal Duplication 10Q	Frontal bossing, Hypertelorism, Pectus excavatum, Cryptorchidism, Brachycephaly, Scoliosis	ORPHA:1695
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Abnormality of the h...	ORPHA:1387
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Exostoses, Multiple, Type Ii	Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end...	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Short metacarpal, Multiple exostoses, Pelvic bone exostoses, Protuberances at end...	OMIM:133700
7P22.1 Microduplication Syndrome	Cryptorchidism, Hypertelorism	ORPHA:314034
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Milroy Disease	Angiosarcoma, Neoplasm of the skin	ORPHA:79452
Neuroblastoma, Susceptibility To, 2	Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma	OMIM:613013
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Non-Syndromic Bicoronal Craniosynostosis	Hypertelorism, Brachycephaly, Proptosis, Metacarpal synostosis, Midface retrusion, Brachydactyly	ORPHA:35099
Pierpont Syndrome	Short neck, Hypertelorism, Cryptorchidism, Short toe, High anterior hairline, Broad palm, Brachyc...	OMIM:602342
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Cryptorchidism, Synophrys, Low posterior hairline, Large hands, Scolio...	ORPHA:85287
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Familial Multiple Lipomatosis	Bowing of the long bones, Medulloblastoma, Overgrowth, Odontogenic keratocysts of the jaw	ORPHA:199276
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop...	OMIM:617866
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cloverleaf skull, External genital hypoplasia, Kyp...	ORPHA:65759
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter...	OMIM:114500
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Cornelia De Lange Syndrome 5	Toe syndactyly, Proximal placement of thumb, Short neck, Highly arched eyebrow, Cryptorchidism, S...	OMIM:300882
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino...	ORPHA:790
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Renal transitional cell carcinoma, Basal cell carcinoma, Patchy alopecia, Pheoc...	ORPHA:2874
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Kyp...	OMIM:301900
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Tapered finger, Cryptorchidism, Short foot, Emotional lability, Thick eyebrow	OMIM:309585
Hao-Fountain Syndrome	Hallux valgus, Trigonocephaly, Aggressive behavior, Cryptorchidism, Clinodactyly of the 5th finge...	OMIM:616863
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious pubert...	ORPHA:3306
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Pierpont Syndrome	Short neck, Hypertelorism, Cryptorchidism, Short toe, Brachycephaly, Deeply set eye, Deep palmar ...	ORPHA:487825
Epidermal Nevus Syndrome	Lipoma, Weakness of long finger extensor muscles, Spinal cord tumor, Rhabdomyosarcoma	ORPHA:35125
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Muenke Syndrome	Midface retrusion, Broad hallux, Hypertelorism, Capitate-hamate fusion, Low anterior hairline, Br...	OMIM:602849
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
1Q21.1 Microduplication Syndrome	Frontal bossing, Hypospadias, Hypertelorism, Cryptorchidism, Hip dislocation, Hip dysplasia, Tali...	ORPHA:250994
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, Hypospadi...	OMIM:175700
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Kyphosis, Synophrys...	OMIM:615761
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Tapered finger, Cryptorchidism, Kyphosis, Deeply set eye, Self-injurious beh...	OMIM:618512
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Gordon Syndrome	Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Pectus excavatum, Cryptorchidi...	ORPHA:376
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Obesity	ORPHA:141333
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Sandal gap, Highly arched eyebrow, Cryptorchidism, Synophrys,...	ORPHA:228402
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Coxa valga, Cu...	OMIM:269300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl...	OMIM:613091
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinova...	OMIM:300434
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Short thumb	OMIM:274205
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Basal Cell Carcinoma, Susceptibility To, 1	Basal cell carcinoma	OMIM:605462
Zimmermann-Laband Syndrome 3	Thick hair, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Synophrys, Low anterior hairl...	OMIM:618658
Acrodysostosis	Micromelia, Short metatarsal, Brachycephaly, Abnormal form of the vertebral bodies, Abnormality o...	ORPHA:950
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Tapered finger, Cryptorchidism, Hypogonadism, Micropenis, Sparse body hair	ORPHA:85274
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Obesity, Brachydactyly	OMIM:615982
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Gorlin Syndrome	Vertebral fusion, Frontal bossing, Arachnodactyly, Hypogonadotropic hypogonadism, Hypertelorism, ...	ORPHA:377
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Anal atresia, Natal tooth, Large posterior fontanelle, Postaxial polydactyly, Hamartoma of tongue...	OMIM:617925
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Abnormality of ...	ORPHA:163649
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Narrow chest, Short tibia, Enceph...	OMIM:616300
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora...	OMIM:615633
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short neck, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Micropenis, Abnormal repet...	OMIM:620073
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, High palate, Bilatera...	OMIM:618142
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Flat occiput, Hyperlordosis, Pectus excavatum, Abnormal metacarpal morphology, Abn...	ORPHA:2511
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Ritscher-Schinzel Syndrome 4	Curly hair, Ulnar deviation of the hand, Impulsivity, Tapered finger, Hypertelorism, Cryptorchidi...	OMIM:619435
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger	OMIM:618725
Trisomy 4P	Hypospadias, Camptodactyly of finger, Abnormal hair pattern, Short neck, Hypertelorism, Preaxial ...	ORPHA:1738
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Hyperactivity, Restlessness, Abnormality of the hand, Short neck, Hypertelorism, Cryp...	ORPHA:369891
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Brachydactyly, Renal insufficiency, Cryptorchidism, Brach...	ORPHA:2377
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Intellectual Disability, Wolff Type	Hypospadias, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Low posterior hairline, Larg...	ORPHA:3080
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Decreased palmar creases, Highly arched eyebrow, Hypertelorism, Kyphosis, Brachyce...	OMIM:615834
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Aggressive behavior, Brachycephaly, Fine hair, Broad thumb,...	ORPHA:251019
19P13.12 Microdeletion Syndrome	Short neck, Synophrys, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Generalized hir...	ORPHA:254346
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Brachydactyly, Turricephaly, Single transverse palmar crease, Pa...	OMIM:601224
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age	OMIM:617119
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Small hand, Short foot, Deeply set eye, Hypogonadism, Sparse body hair, Decreased...	ORPHA:261483
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Tetralogy Of Fallot	Cryptorchidism, Proptosis, Dolichocephaly, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Nijmegen Breakage Syndrome	Sinusitis, Sandal gap, Glioma, Rhabdomyosarcoma, Micrognathia, Malar prominence, Medulloblastoma,...	OMIM:251260
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Single transverse palmar crease, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoli...	ORPHA:178148
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Micrognathia, Hydrocephalus, Embryonal rhabdomyosarcoma, Renal cyst...	OMIM:257300
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Frontal bossing, Tapered finger, Pectus excavatum, Kyphosis, Hypertelorism, Depression, Large han...	ORPHA:276630
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar...	ORPHA:523
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Recombinant Chromosome 8 Syndrome	Midface retrusion, Hypertelorism, Pectus excavatum, Cryptorchidism, Brachycephaly, Low posterior ...	OMIM:179613
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele	OMIM:258320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Dolichocephaly,...	ORPHA:40
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Pseudodiastrophic Dysplasia	Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow disl...	OMIM:264180
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Frontal bossing, Me...	ORPHA:3082
German Syndrome	Abnormal eyebrow morphology, Camptodactyly of finger, Short neck, Dolichocephaly, Cryptorchidism,...	ORPHA:2077
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Cleft palate, Acute lym...	ORPHA:1052
Acrofrontofacionasal Dysostosis 2	Bifid scrotum, Syndactyly, Sacral dimple, Broad hallux, Hypospadias, Hypertelorism, Widow's peak,...	OMIM:239710
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ...	ORPHA:2591
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Camptodactyly of finger, Rocker bottom foot	ORPHA:1270
Gómez-López-Hernández Syndrome	Turricephaly, Hypertelorism, Brachycephaly, Alopecia of scalp, Toenail dysplasia, Midface retrusion	ORPHA:1532
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Hypospadias, Kyphosis, Scoliosis, Dolichocephaly, Abnormal testis morphology, Bil...	ORPHA:1548
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Brachycephaly, Clinodactyly of the 5th finger, Hy...	ORPHA:96263
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Kyphosis, Flexion con...	OMIM:618484
Meige Disease	Angiosarcoma	ORPHA:90186
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Decreased palmar creases, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Ky...	ORPHA:352490
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
49,Xxxxy Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Brachycephaly, Low frustration tolerance, Clinoda...	ORPHA:96264
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thicken...	ORPHA:3152
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Bohring-Opitz Syndrome	Ulnar deviation of the wrist, Facial hypotonia, Micrognathia, Pectus excavatum, Medulloblastoma, ...	ORPHA:97297
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Pectus excavatum, Brachycephaly, Scoliosis, Attention de...	ORPHA:776
Schaaf-Yang Syndrome	Frontal bossing, Rocker bottom foot, Impulsivity, Tapered finger, Cryptorchidism, Kyphosis, Flexi...	OMIM:615547
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal rib morphology, La...	ORPHA:2097
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Turricephaly, Craniosynostosis, Hypertelor...	ORPHA:171839
Weaver Syndrome	Deep-set nails, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Abno...	ORPHA:3447
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-ce...	ORPHA:647
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Single transverse palmar crease, Craniosynostosis, Hypertelorism, ...	OMIM:613174
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Hypogonadism-Cataract Syndrome	Male hypogonadism, Hypogonadism, Infertility	OMIM:240950
3Q13 Microdeletion Syndrome	Hypoplasia of penis, Abnormality of the hand, Hypertelorism, Short neck, Cryptorchidism	ORPHA:1621
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Brach...	OMIM:201000
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
Cornelia De Lange Syndrome 2	Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Short neck, Highly arched eye...	OMIM:300590
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flat occiput, Cryptorchidism, Bilateral talipes equinovarus, Scoliosis, Hand clenching, Arthrogry...	ORPHA:319332
Desanto-Shinawi Syndrome	Short neck, Hypertelorism, Aggressive behavior, Synophrys, Hirsutism, Brachycephaly, Deeply set e...	OMIM:616708
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Kyphosis, Low ante...	OMIM:609128
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Tapered finger, Hypertelorism, Small hand, Brachycephaly, Low posterior hairline, Hypotelorism, D...	OMIM:618672
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Flat occiput, External genital hy...	ORPHA:3041
Congenital Central Hypoventilation Syndrome	Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma	ORPHA:661
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Hypertelorism, Short neck, Cryptorchidism, Brachycephaly, Plagiocephaly, Macrogl...	OMIM:616789
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Brachycephaly, Postaxial polydactyly	OMIM:615985
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongue, Hydrocephalus, Congeni...	OMIM:616546
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Pheochromocytoma, Myelodysplasia, ...	ORPHA:97685
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Frontal bossing, 2-3 toe cutaneous syndactyly, ...	OMIM:617364
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Hypogonadism, Cubitus valgus, Congenital muscular dystrophy,...	ORPHA:1875
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Vulto-Van Silfhout-De Vries Syndrome	Frontal bossing, Sacral dimple, Aggressive behavior, 2-3 toe cutaneous syndactyly, Widow's peak, ...	OMIM:615828
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Midface retrusion, Arachnodactyly, Hyperconvex nail, Postaxial polydactyly, Tape...	OMIM:619721
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Facial palsy, Abnormal rib morphology, Clavicul...	ORPHA:2790
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Alopecia, Frontal bossing, Rocker bottom foot, Proximal placeme...	OMIM:619762
Acrofrontofacionasal Dysostosis	Bifid scrotum, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Hypertelorism, Br...	ORPHA:1784
Pde4D Haploinsufficiency Syndrome	Thickened calvaria, Short metatarsal, Brachycephaly, Hypotelorism, Irregular vertebral endplates,...	ORPHA:439822
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Wide anterior fontanel, Cleft palate, High palate, Clinoda...	OMIM:619736
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Turricephaly, External genital hypoplasia, Abnormality...	ORPHA:99330
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Aggressive behavior, Cryptorchidism, Deeply set eye, Pat...	ORPHA:85279
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr...	ORPHA:370010
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Overgrowth, Polydactyly, Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi...	ORPHA:505237
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi...	OMIM:604757
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Trisomy 20P	Short neck, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral bodies, Vertebra...	ORPHA:261318
Costello Syndrome	Barrel-shaped chest, Hyperextensibility of the finger joints, Limited elbow movement, Rhabdomyosa...	OMIM:218040
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl...	OMIM:615986
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea...	ORPHA:2091
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Chromosome 3Pter-P25 Deletion Syndrome	Sacral dimple, Flat occiput, Overlapping toe, Postaxial polydactyly, Tapered finger, Highly arche...	OMIM:613792
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the...	ORPHA:3210
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Congenital hip dislocation, Hypertelorism, Pectus excavatum, Cryptorchidism, Hip...	OMIM:219150
Alazami-Yuan Syndrome	Thick eyebrow, Hyperactivity, Broad hallux, Single transverse palmar crease, Highly arched eyebro...	OMIM:617126
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Desmoid Tumor	Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid tumors, Neoplasm of the skin...	ORPHA:873
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Craniofrontonasal Syndrome	Ridged nail, Congenital diaphragmatic hernia, Short neck, Brachycephaly, Clinodactyly of the 5th ...	OMIM:304110
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Flat occiput, Overlapping toe, Down-sloping shoulders, Highly arched eyebrow, Tape...	OMIM:617452
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Hamartoma, Polydactyly	OMIM:300484
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Hypertelorism, Brachycephaly, Pigmentary retinopathy, Irritability, Dysphagia	OMIM:264470
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypertelorism, Hypopigmented ...	ORPHA:53271
Nephronophthisis 15	Polydactyly, Obesity	OMIM:614845
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Coffin-Siris Syndrome 8	Sparse scalp hair, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, L...	OMIM:618362
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Diastrophic Dysplasia	Bowing of the long bones, Midface retrusion, Camptodactyly of finger, Proximal placement of thumb...	ORPHA:628
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Facial palsy, Craniosynostosis, Hypertelorism, Brachycephaly, Thickened calvaria	ORPHA:178377
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,...	OMIM:606242
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Micrognathia, Wide anteri...	OMIM:614541
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy...	OMIM:173800
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Familial Hyperprolactinemia	Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Short neck, Cryptorchidism, Kyphosis, Camptodactyly,...	OMIM:618393
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Deeply set eye, Self-injurious behavior, Brachycephaly, Aggressive behavior	OMIM:300699
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Single transverse palmar crease, Rocker bottom foot, Short neck, Cryptor...	OMIM:611890
Acrodysostosis 1 With Or Without Hormone Resistance	Neonatal epiphyseal stippling, Short metatarsal, Brachycephaly, Hypoplastic vertebral bodies, Sho...	OMIM:101800
Smith-Magenis Syndrome	Hyperactivity, Midface retrusion, Synophrys, Self hugging, Broad palm, Head-banging, Brachycephal...	OMIM:182290
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hyperactivity, Highly arched eyebrow, Aggressive behav...	OMIM:600430
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo...	OMIM:614120
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Frontotemporal hypertri...	OMIM:263210
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma...	ORPHA:1988
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro...	OMIM:108120
Oliver-Mcfarlane Syndrome	Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon...	OMIM:275400
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, Hirsutism	ORPHA:85288
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Huriez Syndrome	Squamous cell carcinoma of the skin, Nail dystrophy, Small nail	OMIM:181600
Isolated Anencephaly	Omphalocele, Intrauterine growth retardation, Congenital diaphragmatic hernia	ORPHA:563609
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p...	OMIM:617926
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion c...	OMIM:259600
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Fibroma, Mesomel...	OMIM:300244
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Low posterior...	ORPHA:3456
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly	ORPHA:1296
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal...	ORPHA:2754
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia	OMIM:613630
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Carney Triad	Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang...	ORPHA:139411
Cebalid Syndrome	Turricephaly, Congenital diaphragmatic hernia, Highly arched eyebrow, Hypertelorism, Platystencep...	OMIM:618774
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Hypertelorism, Pectus excavatum, Cryptorchidism, Clinodactyly, Widow's peak, Small hand, Broad fi...	OMIM:614684
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hyperactivity, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossifica...	OMIM:614613
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Dec...	OMIM:114300
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral...	OMIM:612847
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Deeply set eye, Inappro...	ORPHA:505652
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Cryptorchidism, Kyphosis, Flexion contracture, Small hand, Brac...	ORPHA:500055
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Sacral d...	ORPHA:1327
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Deeply set eye, Inappropriate laughter, High anterior hairline, Recurrent hand fla...	OMIM:618859
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph...	OMIM:615290
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Brachycephaly, Knee fle...	ORPHA:3103
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o...	OMIM:613849
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Brachycephaly, Long eyelashes, Spina bifida...	ORPHA:1514
Bardet-Biedl Syndrome 16	Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Pol...	OMIM:615993
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Alopecia, Small scrotum, Hypertelorism, Cryptorchidism, Brachycephaly, Fine hair...	ORPHA:228390
Distal Duplication 18Q	Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, Short neck, ...	ORPHA:1716
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt...	OMIM:619339
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn...	OMIM:217085
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Brachycephaly	ORPHA:2528
Aicardi Syndrome	Cerebellar vermis hypoplasia, Hiatus hernia, Teratoma, Carcinoma, Cleft palate, Chiari malformati...	OMIM:304050
Craniosynostosis 6	Turricephaly, Craniosynostosis, Hypertelorism, Parietal foramina, Low anterior hairline, Brachyce...	OMIM:616602
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Long palm, Single transverse palm...	OMIM:309583
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Contractural Arachnodactyly, Congenital	Short neck, Brachycephaly, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, U...	OMIM:121050
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Decreas...	ORPHA:1173
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Cryptorchidism, Brachycephaly, Scoliosis, Joint contracture	OMIM:615419
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Radial deviation of the hand, Rocker bottom foot, Urinary incontinence, Short ne...	OMIM:301041
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Kleefstra Syndrome 1	Hypospadias, Single transverse palmar crease, Hypertelorism, Aggressive behavior, Cryptorchidism,...	OMIM:610253
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo...	OMIM:115310
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Abnormal hair p...	ORPHA:794
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Small hand, Short foot, Deeply set...	ORPHA:3459
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Hyperactivity, Sandal gap, Tapered finger, Aggressive behavior, Brachycephaly, P...	OMIM:618430
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Frontal bossing, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormalit...	ORPHA:397590
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Clark-Baraitser Syndrome	Hyperactivity, Sandal gap, Aggressive behavior, Hypertelorism, Brachycephaly, Dolichocephaly, Cli...	OMIM:617752
Cheilitis Glandularis	Neoplasm, Squamous cell carcinoma	ORPHA:1221
Trisomy 9P	Sacral dimple, Hypoplastic fingernail, Bilateral single transverse palmar creases, Short neck, Hy...	ORPHA:236
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, 2-...	ORPHA:404440
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Platelet Disorder, Undefined	Neuroblastoma, Hematological neoplasm	OMIM:173420
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C...	OMIM:620107
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu...	ORPHA:370968
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia	OMIM:275100
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation, Scoliosis	OMIM:620200
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Mandibular aplasia, ...	ORPHA:1832
Pycnodysostosis	Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Persisten...	OMIM:265800
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Abnormal muscle fiber morphology, F...	ORPHA:75840
Mcdonough Syndrome	Hypertelorism, Pectus excavatum, Cryptorchidism, Kyphosis, Synophrys, Aplasia/Hypoplasia of the a...	ORPHA:2471
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Hypertelorism, Cryptorchidism, Polydactyly, Hypoplastic ischia	OMIM:616910
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Hyper...	OMIM:619542
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hypertelorism, Abnormal sacrum morphology, Brachycephaly, Abnormal...	ORPHA:93262
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Brachycephaly, Finger joint hyper...	OMIM:212720
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Hypertelorism, Long fingers, Flexion contracture, Low an...	OMIM:218000
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Low frustration tolerance, Clinodactyly of...	OMIM:619293
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Hirsutism	OMIM:277950
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Nephroblastoma, Rhabdomyosarcoma, Large for gestational age, Congenital di...	ORPHA:116
Chung-Jansen Syndrome	Impulsivity, Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, Aggressive behavior, Deepl...	OMIM:617991
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Pectus excavatum of inferior sternum, Small scrotum, Rocker bottom foot, Tapered finger, Hypertel...	OMIM:601353
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal c...	OMIM:614815
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, Flexion contracture, Brachycephaly, Femoral bowing, Abno...	ORPHA:95699
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Microcephaly 16, Primary, Autosomal Recessive	Knee flexion contracture, Cryptorchidism, Hypermelanotic macule, Adducted thumb	OMIM:616681
Joubert Syndrome 37	Frontal bossing, Lumbar hyperlordosis, Postaxial polydactyly, Hypertelorism, Cryptorchidism, Hydr...	OMIM:619185
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Perip...	ORPHA:370348
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival...	OMIM:618529
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Webbed neck, In...	ORPHA:2145
Mosaic Trisomy 14	Frontal bossing, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Hypertelo...	ORPHA:1703
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Abnormal rib morphology, Long thorax, Halberd...	ORPHA:2635
Liposarcoma	Sarcoma	ORPHA:69078
Imagawa-Matsumoto Syndrome	Hypertelorism, Cryptorchidism, Melanocytic nevus, Large hands, Camptodactyly, Clinodactyly, Hyper...	OMIM:618786
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Polydactyly-Myopia Syndrome	Cryptorchidism, Postaxial hand polydactyly	ORPHA:2917
Hernia, Double Inguinal	Inguinal hernia	OMIM:142350
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm...	ORPHA:93351
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Hypertelorism, Tapered finger, Synophrys, Brachycephaly, Horizontal eyebrow, Clinodactyly of the ...	ORPHA:352530
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Flexion contracture, Scoliosis, Hypertelorism	OMIM:618298
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Benign neoplasm of the central nervous system, 2-3 finger syndactyly, Hamartoma of tongue	ORPHA:1338
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Atte...	ORPHA:3000
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Cryptorchidism, Flexion contracture, Low anterior hairline, Brach...	OMIM:614225
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida	ORPHA:2476
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Spina bifida occulta, Upper ...	ORPHA:64755
Acrocallosal Syndrome	Hypospadias, Congenital diaphragmatic hernia, Hypertelorism, Cryptorchidism, Postaxial hand polyd...	ORPHA:36
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Hip dislocation, Myopathy, Scoliosis, Increased ...	OMIM:616471
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Frontal bossing, Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Short neck, Synophrys, Vertebral clefting, Renal hyp...	OMIM:616854
Kbg Syndrome	Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Hypertelorism, Epispad...	OMIM:148050
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Single transverse palmar crease, Brachycephaly, Deeply set eye, Distally placed th...	OMIM:619148
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma	OMIM:606764
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors...	OMIM:617087
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polydactyly, Narrow chest, Talipes equinovarus, Polycysti...	OMIM:613885
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Brachycephaly, Knee fl...	OMIM:613776
Miller-Dieker Syndrome	Omphalocele	ORPHA:531
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Cryptorchidism, ...	OMIM:301830
Warburg Micro Syndrome 4	Decreased muscle mass, Small scrotum, Cryptorchidism, Flexion contracture, Low anterior hairline,...	OMIM:615663
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Pectus excavatum, Flexion contr...	ORPHA:272
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract...	OMIM:610967
Tonne-Kalscheuer Syndrome	Hypospadias, Congenital diaphragmatic hernia, Concave nail, Hypertelorism, Cryptorchidism, Aggres...	OMIM:300978
Hypomelanosis Of Ito	Syndactyly, Alopecia, Hypertelorism, Kyphosis, Macular hypopigmented whorls, streaks, and patches...	OMIM:300337
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Spina bifida, Short neck, Hearing impairment, Low posterior hair...	ORPHA:2345
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Hypertelorism, Cryptorchidis...	OMIM:619797
Nicolaides-Baraitser Syndrome	Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ...	ORPHA:3051
Intellectual Developmental Disorder, X-Linked 106	Hypospadias, Hypertelorism, Cryptorchidism, Synophrys, Frontal upsweep of hair, Clinodactyly of t...	OMIM:300997
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Limited elbow movement, ...	OMIM:300280
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Hypertelorism, Brachycephaly, Melanocytic nevus, Proptosis, Midface retrusion	OMIM:612247
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Hyperactivity, Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Hy...	OMIM:616078
Moebius Syndrome	Short neck, Congenital fibrosis of extraocular muscles, Lower limb undergrowth, Micropenis, Short...	OMIM:157900
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Aggressive behavior, Cryptorchidism, Kyphosis, Self-mutilation, Brachycephaly, ...	ORPHA:364028
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Generalized hirsutism	ORPHA:1918
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Hepatic cysts, Brachydactyly	OMIM:613819
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Aggressive behavior, Precocious puberty, Hypertelorism, Brachycephaly, Scoliosis	OMIM:300958
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidis...	ORPHA:3085
Omodysplasia 2	Clitoral hypoplasia, Limited elbow flexion, Clinodactyly of the 5th finger, Micropenis, Dislocate...	OMIM:164745
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Hypospadias, Facial hypotonia, Cryptorchidism, 2-3 toe cutaneous syndactyly, Repetitive compulsiv...	OMIM:300260
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re...	OMIM:603194
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Diaphanospondylodysostosis	Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal...	ORPHA:66637
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rib...	ORPHA:2180
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Hypospadias, Facial hypotonia, Tapered finger, Pectus excavatum, Cry...	OMIM:618659
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Verheij Syndrome	Branchial cyst, Optic nerve hypoplasia, Short neck, Coloboma, Intrauterine growth retardation, Tr...	OMIM:615583
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Arachnodactyly, Facial hypotonia, Hypertelorism, Brachycephaly, Bilateral talipe...	OMIM:615539
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Crypto...	OMIM:300354
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Del...	ORPHA:85199
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ...	OMIM:617102
Warburg Micro Syndrome 3	Decreased muscle mass, Small scrotum, Kyphoscoliosis, Hypoplastic labia minora, Flexion contractu...	OMIM:614222
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma	ORPHA:314478
Intellectual Developmental Disorder, Autosomal Dominant 1	Hemivertebrae, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Micropenis, Highly arch...	OMIM:156200
Cree Mental Retardation Syndrome	Bifid scrotum, Hypospadias, Rocker bottom foot, Hypertelorism, Pectus excavatum, Cryptorchidism, ...	OMIM:606851
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Pectus excavatum, Micrognathia, Hand ...	OMIM:258860
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Craniosynostosis, Pectus excavatum, Bilateral cryptorchidism, Brachycephaly	ORPHA:314575
Fetal Trimethadione Syndrome	Hypospadias, Synophrys, Brachycephaly, Scoliosis, Ambiguous genitalia, Midface retrusion, Bilater...	ORPHA:1913
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosi...	ORPHA:3409
Microcephaly 27, Primary, Autosomal Dominant	Trigonocephaly, Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly o...	OMIM:619180
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Highly arched eyebrow, Synophrys, Low anterior hairline, Vesicoureteral reflux, Br...	OMIM:618828
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Narrow palm...	ORPHA:177910
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Cryptorchidism, Short thumb, Radioulnar synostos...	OMIM:194350
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hypospadias, Cryptorchidism, Brachycephaly, Horseshoe kidney, Abnormal shape of ...	OMIM:218350
Dysostosis, Stanescu Type	Bowing of the long bones, Micromelia, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Hype...	ORPHA:1798
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Dysp...	OMIM:618323
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Metatarsus adductus, Calcaneova...	OMIM:612513
Smith-Magenis Syndrome	Frontal bossing, Toe syndactyly, Hypertelorism, Precocious puberty, Synophrys, Abnormality of the...	ORPHA:819
Distal Duplication 15Q	Omphalocele, Intrauterine growth retardation, Camptodactyly of finger	ORPHA:1707
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Wide anterior fontanel, ...	ORPHA:313781
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal...	OMIM:180870
Prieto Syndrome	Coxa valga, Hypertelorism, Cryptorchidism, Talipes equinovarus, Radial deviation of finger, Clino...	OMIM:309610
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Acalvaria	Omphalocele	ORPHA:945
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Frontal bossing, Rhizomelia, Hypertelorism, El...	ORPHA:93328
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Rocker bottom foot, Short neck, Cryptorchidism, Hand clenching, Arthrogryposis multiplex congenita	OMIM:618766
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb...	OMIM:607323
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
48,Xxyy Syndrome	Hypoplasia of penis, Flat occiput, Hypergonadotropic hypogonadism, Hypertelorism, Elbow dislocati...	ORPHA:10
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Midface retrusion, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradia...	OMIM:207410
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,...	OMIM:609757
Fg Syndrome 3	Hyperactivity, Broad hallux, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joi...	OMIM:300406
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty...	OMIM:101200
Distal Deletion 10Q	Single transverse palmar crease, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Functional a...	ORPHA:96148
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n...	ORPHA:83469
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, High, ...	OMIM:119600
Axial Spondylometaphyseal Dysplasia	Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed rib cage, Narr...	ORPHA:168549
Image Syndrome	Metaphyseal dysplasia, Frontal bossing, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Hy...	ORPHA:85173
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh...	ORPHA:2616
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Hypotelorism, Hyperconve...	ORPHA:2215
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Hypertelorism, He...	OMIM:220210
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Myopathy, Scoliosis, Hyperlordosis	ORPHA:408
Laurence-Moon Syndrome	Polydactyly, Obesity, Abnormality of the hand	OMIM:245800
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Alopecia, Turricephaly, Decreased response to growth hormone stimulation test, Cra...	OMIM:601853
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen...	OMIM:604841
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Mehmo Syndrome	Hypoplasia of penis, External genital hypoplasia, Tapered finger, Cryptorchidism, Agitation, Tali...	ORPHA:85282
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma	OMIM:601399
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Frontal bossing, Aplasia/Hypoplas...	ORPHA:2256
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Pectus excavatum, Brachycephaly, Plagiocephaly, Sparse hair, Scoliosis, Toe clino...	OMIM:619910
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ...	ORPHA:1354
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Hypospadias, Fractured radius, Decreased fibular diameter, Short neck, Hypertelorism...	OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Broad hallux, Short neck, Hypertelorism, Abnormal hair whorl, Synophrys, Aggressive behavior, 2-3...	OMIM:300860
Weaver Syndrome	Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Calcaneovalgus deformity,...	OMIM:277590
Temple Syndrome	Few cafe-au-lait spots, Frontal bossing, Decreased response to growth hormone stimulation test, P...	ORPHA:254516
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short neck, Bilateral cryptorchidism, Coronal hypospadias, Hypertelorism, Brachycephaly, Lumbar h...	OMIM:619859
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Fac...	ORPHA:2780
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Kyphosis, Low anterior...	OMIM:619244
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
4Q21 Microdeletion Syndrome	Frontal bossing, Toe syndactyly, Micromelia, Short neck, Hypertelorism, Kyphosis, Synophrys, Smal...	ORPHA:238750
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Flat occiput, Sparse facial hair, Decreased palmar creases, Triphalangeal thumb, Aplasia of the o...	ORPHA:2232
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Delayed closure of the anterior fontanelle, Upper limb asymmetry, High palate, P...	ORPHA:231140
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Hypertelorism, Coxa valga, Cryptorchidism, Finger clinodactyly, Bilateral talipes equinovarus	ORPHA:2958
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreas...	OMIM:259440
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Aarskog-Scott Syndrome	Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Short neck, Pectus e...	ORPHA:915
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of...	OMIM:618779
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Myopath...	OMIM:112250
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Joubert Syndrome 16	Encephalocele, Polydactyly, Renal cyst	OMIM:614465
Freeman-Sheldon Syndrome	Camptodactyly of finger, Hypertelorism, Cryptorchidism, Ulnar deviation of finger, Deeply set eye...	ORPHA:2053
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Genu valgum, Pectus ...	OMIM:607131
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse scalp hair, Sagittal craniosynostosis, Hypertelorism, Sparse eyebrow, Hypoplastic toenails...	ORPHA:459061
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Supernumerary nipple, Aggressive behavior, Hypertelorism, Synophrys, Brachycephaly	OMIM:616083
Crouzon Syndrome	Frontal bossing, Turricephaly, Hypertelorism, Abnormal sacrum morphology, Hypopigmented skin patc...	ORPHA:207
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Short neck, Hypertelorism, Sma...	ORPHA:284180
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Multicystic kidney dysplasia, Facial p...	ORPHA:261349
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Ulnar deviation of the 3rd finger, Facial palsy, Proximal placement o...	ORPHA:456312
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Hamamy Syndrome	Long toe, Syndactyly, Hypoparathyroidism, Sparse eyelashes, Down-sloping shoulders, Craniosynosto...	OMIM:611174
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary te...	OMIM:620099
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Short neck, 2-3 toe c...	OMIM:609625
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal intervertebral disk morphology, Abnormal fingernail morphology, Hyper...	ORPHA:2701
Monosomy 5P	Microretrognathia, Finger syndactyly, High palate, Small hand	ORPHA:281
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, 1-4 toe s...	OMIM:617201
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Craniofacial osteosclerosis, Di...	OMIM:122860
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Hypomimic face, Low anterior hairline, Brachycephaly, Short neck	ORPHA:320385
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the...	OMIM:255800
Proximal 16P11.2 Microduplication Syndrome	Frontal bossing, Arachnodactyly, Sparse eyelashes, Congenital diaphragmatic hernia, Hypertelorism...	ORPHA:370079
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Bardet-Biedl Syndrome 3	Obesity, Postaxial polydactyly, Brachydactyly	OMIM:600151
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Sarcoma	ORPHA:69077
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Single transverse palmar crease, Synophrys, Low anterior hairline, Compulsive behaviors, Clinodac...	OMIM:617061
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Postaxial pol...	OMIM:614091
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis, Brachycephaly, Deeply set eye, Scoliosis, Attention deficit hyperactiv...	OMIM:619504
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Attent...	ORPHA:589905
Hogue-Janssen Syndrome 2	Broad hallux, Facial hypotonia, Postaxial polydactyly, Unilateral renal agenesis, Pectus excavatu...	OMIM:616362
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Proximal placement of thumb, ...	ORPHA:94065
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ...	ORPHA:1120
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,...	ORPHA:85293
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Unilateral cryptorchidism, Brachycephaly, Plagiocephaly, High anterior h...	OMIM:618862
N Syndrome	Cryptorchidism, Hypospadias	ORPHA:2608
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Polydips...	OMIM:615994
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thum...	ORPHA:435638
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele	OMIM:614450
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Short neck,...	OMIM:610759
Larsen-Like Syndrome	Frontal bossing, Kyphoscoliosis, Hypertelorism, Brachycephaly, Talipes equinovarus, Radial deviat...	OMIM:608545
Adenylosuccinate Lyase Deficiency	Flat occiput, Brachycephaly	ORPHA:46
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu...	OMIM:166200
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Turricephaly, Congenital abnormal hair pattern, External genital hypoplasia, Tapered fi...	ORPHA:1867
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Hypomimic face, Low anterior hairline, Brachycephaly, Short neck	OMIM:615031
Cerebrooculonasal Syndrome	Hypoplasia of penis, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Postaxial hand polydactyly,...	ORPHA:66625
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Hypertelorism, Non-obstructive azoospermia, C...	ORPHA:432
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Hyperactivity, Hypertelorism, Bilateral cryptorchidism, C...	OMIM:617796
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Flat occiput, Highly arched eyebrow, Hypertelorism, Cry...	ORPHA:96147
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Coffin-Siris Syndrome 6	Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, Wormian bones, Cl...	OMIM:617808
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipe...	ORPHA:93298
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Single transverse palmar crease, Rocker bottom foot, Camptodactyly of ...	OMIM:619951
Lig4 Syndrome	Cryptorchidism, Low anterior hairline, Brachycephaly, Hypotelorism, Clinodactyly of the 5th finge...	OMIM:606593
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus e...	ORPHA:163654
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Deeply set eye,...	OMIM:300869
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Flat occiput, Hypertelorism, Bilateral cr...	OMIM:617746
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Enlargement of the costochondral...	OMIM:271650
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Branchiootic Syndrome	Branchial fistula, Facial palsy, Sensorineural hearing impairment, Atresia of the external audito...	ORPHA:52429
Potocki-Shaffer Syndrome	Parietal foramina, Micropenis, Brachycephaly	ORPHA:52022
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anorexia, Abnormal fear-induced behavior, Irr...	ORPHA:3077
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow	OMIM:609384
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,...	OMIM:607361
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Genu ...	ORPHA:2983
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ...	OMIM:608940
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi...	ORPHA:3121
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Hy...	OMIM:614800
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl...	ORPHA:261494
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Single transv...	OMIM:618291
Acrofacial Dysostosis, Catania Type	Hypospadias, Single transverse palmar crease, Cryptorchidism, Widow's peak, Short palm, Spina bif...	OMIM:101805
Alagille Syndrome	Hypoplasia of the ulna, Frontal bossing, Hypertelorism, Cryptorchidism, Abnormality of the ureter...	ORPHA:52
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Short neck, Hypertelorism, Calcaneovalgus deformity, Adducted thumb, Flexion cont...	ORPHA:562528
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity...	OMIM:250420
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Low ...	OMIM:614976
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh...	ORPHA:208441
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Thin ribs, High palate,...	OMIM:616294
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S...	OMIM:213980
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Cdags Syndrome	Sparse scalp hair, Frontal bossing, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Rec...	OMIM:603116
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly, Aggressive behavior	OMIM:309530
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Thin ribs, Short f...	ORPHA:93324
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Large fontanell...	OMIM:222765
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Hypertelorism, Cryptorchidism, Increas...	ORPHA:8
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Aqueductal stenosis, Abnormal rib morpholo...	ORPHA:3035
Kbg Syndrome	Vertebral fusion, Single transverse palmar crease, Abnormal hair pattern, Short neck, Hypertelori...	ORPHA:2332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl...	OMIM:613156
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, External genital hypoplasia, Postaxial polydacty...	OMIM:615996
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Hypertelorism, Synophrys, Ver...	OMIM:614701
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Noonan Syndrome 13	Short neck, Generalized hirsutism, Highly arched eyebrow, Tapered finger, Hypertelorism, Cryptorc...	OMIM:619087
Aase-Smith Syndrome I	Cleft palate, Flexion contracture, Congenital neuroblastoma, Dandy-Walker malformation	OMIM:147800
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Micrognathia, Irregular femoral epiphysis, Submucou...	OMIM:108300
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Preaxial polydactyly, Preaxial foot...	OMIM:603671
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Grant Syndrome	Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia	OMIM:138930
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, High, narrow pal...	OMIM:619880
Bardet-Biedl Syndrome 6	Syndactyly, Obesity, Postaxial polydactyly	OMIM:605231
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Frontal bossing, Facial hypotonia, Short neck, Tapered finger, Brachycephaly, Pl...	OMIM:616801
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Bifid scrotum, Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, S...	ORPHA:2211
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Warburg Micro Syndrome 1	Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Deeply set eye, Fac...	OMIM:600118
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Hypertelorism, Pectus excavatum, Brachycephaly, Plagiocephaly	OMIM:618603
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Amelogenesis imperfecta	OMIM:614727
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Down-sloping shoulders, Hypertelorism, Pectus excavatum, Cryptorchi...	OMIM:227330
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	OMIM:278740
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Decreased testicular size	ORPHA:93950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
9P13 Microdeletion Syndrome	Thick eyebrow, External genital hypoplasia, Highly arched eyebrow, Hyperconvex nail, Precocious p...	ORPHA:324313
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:2143
Sprengel Deformity	Rib segmentation abnormalities, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Sprengel anom...	OMIM:184400
Familial Colorectal Cancer Type X	Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla...	ORPHA:440437
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Congenital diaphragmatic hernia	OMIM:601163
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi...	ORPHA:2475
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Suleiman-El-Hattab Syndrome	Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal hirsutism, Hyperte...	OMIM:618950
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Intrauterine ...	ORPHA:1506
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral de...	OMIM:166220
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho...	ORPHA:2876
Trigonocephaly 1	Omphalocele	OMIM:190440
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Synophrys, Low anterior hairline, Brachycephaly, Hypotelorism, Hypopl...	OMIM:619512
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Hypertelorism, ...	OMIM:156400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Neoplasm of the nervous system, Aganglionic megacolon, Ganglioneuroblastoma	ORPHA:2151
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Decreased muscle mass, Arachnodactyly, Decreased palmar crea...	OMIM:108145
8Q12 Microduplication Syndrome	Highly arched eyebrow, Brachycephaly, Short foot, Attention deficit hyperactivity disorder, Vesic...	ORPHA:228399
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ...	ORPHA:2839
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, General...	OMIM:605130
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Flexion contracture, Brachycephaly, Hypotelorism, Deeply set eye, Microp...	OMIM:309590
20Q11.2 Microduplication Syndrome	Bifid scrotum, Sacral dimple, Trigonocephaly, Pectus excavatum, Cryptorchidism, Brachycephaly, Sh...	ORPHA:363659
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Brachycephaly, Hypotelorism, H...	ORPHA:2163
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla...	OMIM:617895
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hemangioma	OMIM:149000
Prader-Willi Syndrome	Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response to growth h...	OMIM:176270
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Ve...	ORPHA:251014
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Kyphoscoli...	ORPHA:1145
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Short neck, Brachycephaly, Shoulder dislocation, Dislocated radi...	OMIM:245600
Non-Distal Duplication 13Q	Arachnodactyly, Abnormal fingernail morphology, Abnormal eyelash morphology, Cryptorchidism, Post...	ORPHA:1702
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Kleefstra Syndrome 2	Kyphosis, Plagiocephaly, Self-injurious behavior, Scoliosis, Midface retrusion, Thick eyebrow	OMIM:617768
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Cryptorchidism, Kyphosis, Low posterior hairline, Premature graying of ha...	ORPHA:2617
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Ectopic kid...	OMIM:122470
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Cryptorchidism, Brachycephaly, Genu valgum, Hypotelorism, Irritability, Posterior pl...	OMIM:617798
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Hypopigmentation of hair, Brachycephaly, Dysphagia	ORPHA:70472
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Brachycephaly, Patellar hypoplasia,...	ORPHA:1827
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Brac...	ORPHA:96121
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Mmep Syndrome	Cryptorchidism, Split foot, Triphalangeal thumb	ORPHA:3434
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Hypoplastic fingernail, Hypoplastic toenails, Hypoplastic fifth fingernail, Brac...	ORPHA:1292
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Slender...	ORPHA:1486
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Shor...	ORPHA:127
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract...	ORPHA:163976
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Highly arched eyebrow, Sparse ...	ORPHA:263463
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cleft palate, Wide m...	OMIM:243605
Loeys-Dietz Syndrome 5	Smooth philtrum, Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate,...	OMIM:615582
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo...	ORPHA:247798
Li-Campeau Syndrome	Single transverse palmar crease, Hypertelorism, Cryptorchidism, Patellar hypoplasia, Micropenis, ...	OMIM:619189
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Distal Deletion 10P	Hypoplasia of penis, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Cryptorchi...	ORPHA:1580
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Anterior rib cupping, Metaphyseal widening, Flexion contracture, Broad palm, Coxa ...	OMIM:300232
Endocardial Fibroelastosis	Anterior hypopituitarism, Cryptorchidism, Hypoplasia of penis, Sandal gap	ORPHA:2022
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Spa...	OMIM:250250
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Duplication of...	OMIM:601707
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Flexion contracture, Deeply set eye, Low frustration tolerance, Micropenis, Distal lower limb amy...	OMIM:300534
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Noonan Syndrome With Multiple Lentigines	Scapular winging, Hypospadias, Hypertelorism, Pectus excavatum, Cryptorchidism, Aplasia/Hypoplasi...	ORPHA:500
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Chromosome 1Q41-Q42 Deletion Syndrome	Frontal bossing, Sandal gap, Supernumerary nipple, Hypertelorism, Pectus excavatum, Cryptorchidis...	OMIM:612530
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu...	ORPHA:2804
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Monosomy 9P	Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Synophrys, Brachycephal...	ORPHA:261112
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Microretrognathi...	OMIM:616229
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Bilateral single transverse palmar creases, Hypertelorism, Kyphosis, Synophrys, Scoliosis, Hypert...	ORPHA:85317
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Bra...	OMIM:612626
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Frontal bossing, Hypospadias, Short neck, Hypertelorism, Cryptorchidism, Short toe, Flexion contr...	ORPHA:98791
Al Kaissi Syndrome	Sacral dimple, Torticollis, Hypertelorism, Synophrys, Hemivertebrae, Small hand, Brachycephaly, D...	OMIM:617694
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Single transverse palmar crease, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Horseshoe kidney,...	ORPHA:502434
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Ectopic kidney, Hypertelorism, Cryptorchidism, Short thum...	ORPHA:401935
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Hypospadias, Arachnodactyly, Kyphoscoliosis, Ectopic kidney, Pec...	ORPHA:3063
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Hypertelorism, Short neck, Kyphosis, Hip dislocation, Brachycephaly, Polycystic ...	OMIM:608776
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Deeply set eye, Scoliosis, Thick eyebrow	ORPHA:2429
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Self-mutilation, Genu varum	OMIM:604317
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Arachnodactyly, Aggressive behavior, Pectus excavatum, Cryptorchidism, Talipes equinovarus, Scoli...	OMIM:301039
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Hypopla...	OMIM:311900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypertelorism, Coxa valga, Hip dislocation, Brachycephaly, Abnormality of the vertebral column, P...	OMIM:109120
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ...	OMIM:619518
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics...	OMIM:617788
Neurofaciodigitorenal Syndrome	Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Hypertelorism, Pectus ex...	ORPHA:2673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos...	OMIM:606612
Larsen Syndrome	Finger syndactyly, Brachydactyly, Short nail, Craniosynostosis, Hypertelorism, Cryptorchidism, Ac...	ORPHA:503
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Flared, irregular rib ends, Micromelia, Coxa vara	ORPHA:168555
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Hypertelorism, Crypto...	ORPHA:2075
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Hyperteloris...	ORPHA:2988
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Long eyel...	ORPHA:48431
Adnp Syndrome	Single transverse palmar crease, Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
9Q33.3Q34.11 Microdeletion Syndrome	Small scrotum, Single transverse palmar crease, Highly arched eyebrow, Short neck, Abnormal hair ...	ORPHA:495818
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Gastrointestinal Stromal Tumor	Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla...	ORPHA:44890
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ...	ORPHA:2083
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Pectus excavatum, Cryptorchidism, Prima...	OMIM:244200
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protru...	OMIM:610682
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Hyperactivity, Hypospadias, Single transverse palmar crease, Diasta...	OMIM:123450
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Chromosome 6Q11-Q14 Deletion Syndrome	Sacral dimple, Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Hypertelori...	OMIM:613544
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Spinal rigidity, Pectus excavatum, Cryptorchidism, Centrally nucleat...	ORPHA:486815
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Low anterior hairline, Brachycephaly, Scoliosis, Lambdoidal craniosynostosis, Spina...	OMIM:618736
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Highly arched eyebrow, Tapered finger, Supernumerary nipple, Cryptorchidism, Sho...	OMIM:616728
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scol...	ORPHA:531151
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Frontal bossing, Rocker bottom foot, Short neck, Pectus excavatum, Hypertelorism, Brac...	OMIM:612582
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size	OMIM:229070
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Brachycephaly, Proptosis, Lambdoidal c...	OMIM:123500
Xeroderma Pigmentosum, Complementation Group C	Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:278720
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe...	OMIM:613805
Monosomy 18P	Alopecia, Kyphoscoliosis, Short neck, Pectus excavatum, Brachycephaly, Low posterior hairline, Br...	ORPHA:1598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Achondrogenesis Type 1A	Multiple rib fractures, Micromelia, Micrognathia, Short thorax, Short foot, Narrow chest, Short p...	ORPHA:93299
Hallermann-Streiff Syndrome	Sparse scalp hair, Hyperactivity, Frontal bossing, Sparse eyelashes, Abnormality of the hand, Hyp...	OMIM:234100
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Pelger-Huet Anomaly	Frontal bossing, Foot dorsiflexor weakness, Hypertelorism, Kyphosis, Upper limb undergrowth, Lowe...	OMIM:169400
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cryptorchidism, Short metacarpal, Short thumb	ORPHA:2489
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar...	ORPHA:93323
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Ost...	ORPHA:289157
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Narrow mouth, Flexion contracture, Hypoplasia of teeth, High palat...	OMIM:608612
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Osteoglophonic Dysplasia	Short neck, Hypoplastic toenails, Short metatarsal, Short palm, Shallow orbits, Short phalanx of ...	OMIM:166250
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy...	ORPHA:1553
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Distal Monosomy 7Q36	Hypoplasia of penis, Short neck, Pectus excavatum, Cryptorchidism, Symphalangism affecting the ph...	ORPHA:1636
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Cleft palate, Ecto...	ORPHA:2994
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, Aplasia/Hypoplasia of...	ORPHA:1225
Prune Belly Syndrome	Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Pectu...	ORPHA:2970
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Perineal hypospadias, Ambiguous genitali...	OMIM:264600
Trichohepatoneurodevelopmental Syndrome	Synophrys, Brachycephaly, Coarse hair, Bilateral coxa valga, Clinodactyly of the 5th finger, Thor...	OMIM:618268
3Mc Syndrome 3	Bifid scrotum, Sacral dimple, Diastasis recti, Highly arched eyebrow, Hypertelorism, Cryptorchidi...	OMIM:248340
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Elbow dislocation, Kyphosis, P...	ORPHA:2916
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cryptorchidism, Flexion contracture, Elbow flexio...	OMIM:214150
Braddock Syndrome	Congenital muscular torticollis, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, Micro...	ORPHA:52047
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Myelodysplasia, Pancreatic cy...	ORPHA:1318
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cryptorchidism	ORPHA:1074
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, Abnormal eating behavior, Deeply set eye, Recurrent hand flap...	ORPHA:544254
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Midface retrusion, Craniofacial hype...	ORPHA:3219
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Micromelia, Hypertelorism, Cryptorchidism, Decreased calvarial ossification,...	ORPHA:2772
Distal Deletion 12Q	Single transverse palmar crease, Short neck, Ectopic kidney, Brachycephaly, Aplasia/Hypoplasia of...	ORPHA:96149
Retinoblastoma	Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Eiken Syndrome	Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Multiple uneru...	OMIM:600002
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Sparse scalp hair, Skeletal muscle atrophy, Arachnodactyly, Sparse eyelashes, Kyphoscol...	ORPHA:75496
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Turricephaly, Broad hallux, Tapered finger, Pectus excavatum, Cryptorchidism, Short ...	OMIM:620224
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat...	OMIM:607326
Trisomy 13	Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormality of...	ORPHA:3378
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Intrauterine growth re...	ORPHA:1797
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Craniosynostosis, Hip dislocation, Genu varum, Deep palmar crease, High palate, Clino...	OMIM:619451
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Overlapping toe, Hypospadias, Hyperconvex nail, Tapered finger, Limb joint contracture, Cryptorch...	OMIM:300004
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor...	OMIM:620250
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness	OMIM:618124
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly	OMIM:601389
Lowry-Maclean Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, ...	ORPHA:2409
Richieri-Costa/Guion-Almeida Syndrome	Pectus excavatum, Brachycephaly, Hypotelorism, Deeply set eye, Palmoplantar cutis laxa, Spina bif...	OMIM:268850
Rahman Syndrome	Kyphoscoliosis, Cryptorchidism, Talipes equinovarus, Camptodactyly, High anterior hairline	OMIM:617537
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Turricephaly, Hypertelorism, Kyphosis, Abnormality of the elbow, Hip...	ORPHA:1005
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Craniosynostosis, Hypertelorism, Bilateral cryptorchidism, Sp...	OMIM:613451
Mosaic Trisomy 8	Frontal bossing, Camptodactyly of finger, Short neck, Hypertelorism, Cryptorchidism, Patellar apl...	ORPHA:96061
19P13.13 Microdeletion Syndrome	Sandal gap, Hypertelorism, Pectus excavatum, Long fingers, Brachycephaly, Deeply set eye, Macrogl...	ORPHA:357001
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb...	ORPHA:93360
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Flat occiput, External genital hypoplasia, Short neck, Tibial bowing, Deeply set eye, Clinodactyl...	ORPHA:251028
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud...	OMIM:113650
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Joubert Syndrome 10	Frontal bossing, Hirsutism, Postaxial polydactyly	OMIM:300804
Harrod Syndrome	Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Kyphosis, Hypopigmente...	ORPHA:2115
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Congenital diaphragma...	ORPHA:2311
Stankiewicz-Isidor Syndrome	Ureteral duplication, Sacral dimple, Hyperactivity, Hypospadias, Absent thumb, Hypertelorism, Cry...	OMIM:617516
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Short neck, Cryptorchidism, Dysphagia, Platyspondyly, Cone-shaped epiphyses of th...	OMIM:618958
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern...	ORPHA:1488
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl...	OMIM:615849
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Ck Syndrome	Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Irritability, Scoliosis, Abnormal di...	OMIM:300831
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Congenital contracture, Scoliosis, Dys...	OMIM:618578
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Thoracic hypoplasia, Dumbbell-shaped long bone, Micromelia, Hypoplasti...	OMIM:151210
Humero-Radial Synostosis	Meningocele, Iris coloboma, Chorioretinal coloboma	ORPHA:3265
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:264700
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Momo Syndrome	Delayed eruption of teeth, Smooth philtrum, Large for gestational age, Thick lower lip vermilion,...	ORPHA:2563
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Synostosis of carpal bones, Posterolater...	ORPHA:221120
Bresek Syndrome	Alopecia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Renal hypoplasia, Plagioceph...	ORPHA:85284
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar ky...	OMIM:618853
Vitamin K Antagonist Embryofetopathy	Short neck, Myelomeningocele, Hydrocephalus, Optic atrophy, Microtia, Intrauterine growth retarda...	ORPHA:1914
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Osteoglosphonic Dysplasia	Rhizomelia, Craniosynostosis, Hypertelorism, Cryptorchidism, Abnormal form of the vertebral bodie...	ORPHA:2645
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab...	ORPHA:2050
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Angelman Syndrome	Hyperactivity, Flat occiput, Blue irides, Brachycephaly, Deeply set eye, Macroglossia, Scoliosis,...	OMIM:105830
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Short neck, Pectus excavatum, Supernumerary nipple, Hypertelorism, Brachyc...	ORPHA:247262
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth	OMIM:277440
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Fine hair	ORPHA:1174
Trisomy 18P	Facial palsy, Highly arched eyebrow, Bilateral cryptorchidism, Abnormal finger morphology, Hypote...	ORPHA:1715
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma	ORPHA:97286
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Arachnodactyly, Craniosynostosis, Hypertelorism, Pectus excavatum, Cryptorchidis...	OMIM:182212
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Cryptorchidism, Increase...	OMIM:616817
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplasia of ...	OMIM:215140
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten d...	OMIM:609638
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Umbilical hernia, Diastasis recti	ORPHA:254534
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Overlapping toe, Scoliosis, Hypertelorism	ORPHA:466926
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t...	ORPHA:2588
Temple Syndrome	Frontal bossing, Precocious puberty, Cryptorchidism, Flexion contracture, Small hand, Short foot,...	OMIM:616222
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Pectus excavatum, Abnormal thumb morphology, Abno...	ORPHA:3242
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Centrally ...	OMIM:248800
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia	DECIPHER:39
Lig4 Syndrome	Hypoplasia of penis, Cryptorchidism, Low anterior hairline, Brachycephaly, Biparietal narrowing, ...	ORPHA:99812
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Protruding ear, Branchial an...	ORPHA:1131
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou...	OMIM:236500
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Single transverse palmar crease, Highly arched eyebrow, Hypertelorism, Pectus excavatum, Cryptorc...	ORPHA:329224
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Lambotte Syndrome	Preaxial foot polydactyly, Semilobar holoprosencephaly, Retrognathia, Intrauterine growth retarda...	OMIM:245552
Pitt-Hopkins Syndrome	Short fourth metatarsal, Single transverse palmar crease, Short neck, Deeply set eye, Short palm,...	OMIM:610954
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Single transverse palmar crease, Hypertelorism, Kyphosis, Synophrys, Scoliosis, Hirsutism	OMIM:300861
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, Neonatal dea...	OMIM:269860
Clcn4-Related X-Linked Intellectual Disability Syndrome	Hyperactivity, Aggressive behavior, Cryptorchidism, Depression, Self-injurious behavior, Compulsi...	ORPHA:485350
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis	OMIM:616756
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of...	ORPHA:710
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Frontal bossing, Down-sloping shoulders, H...	ORPHA:1974
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Silver-Russell Syndrome 3	Syndactyly, Frontal bossing, Unilateral cryptorchidism, Elbow contracture, Small hand, Melanocyti...	OMIM:616489
Chromosome 18P Deletion Syndrome	Barrel-shaped chest, Toe syndactyly, Short neck, Hypertelorism, Cryptorchidism, Coxa vara, Gonada...	OMIM:146390
Schilbach-Rott Syndrome	Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn...	OMIM:164220
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ...	ORPHA:2549
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, High palate	OMIM:619750
Marden-Walker Syndrome	Decreased muscle mass, Hypospadias, Arachnodactyly, Short neck, Hypertelorism, Cryptorchidism, Ky...	OMIM:248700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly...	OMIM:263520
Brachycephaly, Trichomegaly, And Developmental Delay	Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li...	OMIM:617412
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ...	ORPHA:398069
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin	ORPHA:2786
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, F...	OMIM:248370
De Barsy Syndrome	Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Hypertelorism, Pectus excavatu...	ORPHA:2962
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi...	ORPHA:1647
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Short neck, Pectus exca...	OMIM:212066
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Pectus carinatum,...	OMIM:612921
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Microme...	ORPHA:1908
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Myelomeningocele, ...	ORPHA:2437
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Abnormal position of hair whorl, Brachycephaly	ORPHA:85290
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Squamous cell carcinoma of the skin, Myelodysplasia	OMIM:620365
Congenital Myopathy 13	Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Cryptorchidism, Fl...	OMIM:255995
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Hypospadias, Overlapping toe, Highly arched eyebrow, Hypertelorism, Pectus excavatum, C...	OMIM:618316
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Branchiootic Syndrome 3	Branchial cyst, Sensorineural hearing impairment	OMIM:608389
Oculocutaneous Albinism Type 1B	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Aymé-Gripp Syndrome	Sparse scalp hair, Proteinuria, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered fing...	ORPHA:1272
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Bra...	ORPHA:371428
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Osteopenia, Joint laxity, Thin upper lip vermilion, Delayed closure of...	OMIM:607812
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth	OMIM:619142
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Brach...	OMIM:135900
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentation defect, R...	OMIM:611209
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ...	OMIM:619122
Coffin-Siris Syndrome 2	Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Sandal gap, Hyperactivity, Cryptorchid...	OMIM:614607
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Ulnar deviation of f...	ORPHA:921
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Frontal bos...	ORPHA:87
Masa Syndrome	Kyphosis, Hyperlordosis, Talipes equinovarus, Adducted thumb	OMIM:303350
Retinitis Pigmentosa 51	Polydactyly, Obesity	OMIM:613464
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia, Attention deficit hyperactivity disorder, Facial myokymia	OMIM:620007
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, High, narrow pal...	ORPHA:2554
Cat-Eye Syndrome	Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology	ORPHA:195
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Small scrotum, Toe syndactyly, Anterior pituitary hypoplasia, Hypertelorism, C...	ORPHA:264200
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2189
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Small scrotum, Internally nucleated skeletal muscle fibers, Tibialis ant...	ORPHA:98905
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Brachycephaly, Abnormal form of the vertebr...	ORPHA:175
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Cleft palate, Abno...	ORPHA:3429
White-Sutton Syndrome	Overfriendliness, Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, H...	OMIM:616364
Short Stature-Micrognathia Syndrome	Small scrotum, Rhizomelia, Broad femoral neck, Bowing of the legs, Coxa valga, Cryptorchidism, Me...	OMIM:617164
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin...	OMIM:108720
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ...	OMIM:192350
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Short neck, Hypertelorism, Synophrys, Hemivertebrae, Brachycephaly, Low po...	ORPHA:1394
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Umbilical hernia, Camptodacty...	ORPHA:254528
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of...	ORPHA:261344
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Micropenis, Hypopigmentation of ...	ORPHA:398079
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Ob...	OMIM:620072
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Joint laxity, Anal stenosis, Sagittal craniosynostosis, Bowing of the legs...	OMIM:617063
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia,...	OMIM:607095
Caudal Duplication	Omphalocele	ORPHA:1756
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Hypert...	ORPHA:2062
Premature Aging Syndrome, Penttinen Type	Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkerato...	OMIM:601812
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Synophrys, Ragged-red muscle fibers, Deeply set eye, Generalized amyotrophy, ...	OMIM:620351
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog...	ORPHA:3068
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon	OMIM:235750
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Frontal balding, Short neck, Pectus excavatum, Cryptorchidism, Precoci...	ORPHA:96092
Smith-Kingsmore Syndrome	Curly hair, Frontal bossing, Rhizomelia, Diastasis recti, Hypertelorism, Short proximal phalanx o...	OMIM:616638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Genu valgum	OMIM:611560
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ...	OMIM:263630
Achondroplasia	Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, S...	ORPHA:15
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo...	OMIM:244460
Menkes Disease	Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Brachycephaly, Sparse hair, Hypo...	OMIM:309400
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Joubert Syndrome 23	Polydactyly	OMIM:616490
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ...	OMIM:184250
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Yellow Nail Syndrome	Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma	ORPHA:662
Opitz-Kaveggia Syndrome	Single transverse palmar crease, Micrognathia, Anteriorly placed anus, Prominent fingertip pads, ...	OMIM:305450
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Osteopenia, Limitation of joint mobility, Clubbing, Large fontanelles, Osteolytic de...	OMIM:259100
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con...	OMIM:130060
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Rocker bottom foot, Craniosynostosis, Coxa valga, Hypertelorism, Cryptorchidism, Pos...	OMIM:301056
Bone Marrow Failure Syndrome 3	Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy...	OMIM:617052
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Noonan Syndrome 5	Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Hypertelorism, Fine hair, Multiple lentig...	OMIM:611553
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Multiple lipomas, Thyroid carcinoma, Foo...	ORPHA:210548
Ulnar-Mammary Syndrome	Hypoplasia of penis, Hypoplastic toenails, Aplasia of the pectoralis major muscle, Abnormal finge...	ORPHA:3138
Gorlin-Chaudhry-Moss Syndrome	Hypertelorism, Low anterior hairline, Brachycephaly, Coarse hair, Abnormal metacarpal morphology,...	ORPHA:2095
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt...	ORPHA:313855
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Brachycephaly,...	OMIM:300968
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Brachycephaly, Depression, Dysphagia, Abnormal repetitive ...	DECIPHER:45
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Brachycephaly,...	OMIM:259050
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Arthrogryposis, Distal, Type 2A	Short neck, Knee flexion contracture, Deeply set eye, Spina bifida occulta, Wrist flexion contrac...	OMIM:193700
Tuberous Sclerosis 1	Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino...	OMIM:191100
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm...	OMIM:216550
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Vacterl/Vater Association	Finger syndactyly, Multicystic kidney dysplasia, Occipital encephalocele, Congenital diaphragmati...	ORPHA:887
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele	OMIM:601357
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn...	OMIM:265000
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Hypospadias, Rocker bottom foot, Decreased response to growth hormone stimulation ...	ORPHA:363528
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Frontal open ...	OMIM:225410
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Palmoplantar hyperkeratosis, Sparse hair, Clinodactyly of the 5th finger, Highly a...	OMIM:280000
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture o...	ORPHA:1883
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Short neck, Decreased fertility, Brachyce...	ORPHA:870
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Short neck, Low anterior hairline, Sparse hair, Micropenis, Shor...	OMIM:608156
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Wide anterior fontanel, Cleft palate, Ante...	OMIM:217980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb, Hyperteloris...	OMIM:616263
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Hypertelorism, Br...	ORPHA:1236
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Lhermitte-Duclos Disease	Fibroadenoma of the breast, Enlarged cerebellum, Ovarian neoplasm, Trichilemmoma, Macroglossia, N...	ORPHA:65285
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Hi...	ORPHA:2655
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Brachycephaly, Femoral bowing, M...	OMIM:201750
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repe...	OMIM:618917
Congenital Disorder Of Glycosylation, Type Iq	Hypertelorism, Brachycephaly, Abnormality of skin pigmentation, Dysphagia, Hypertrichosis	OMIM:612379
Fryns Microphthalmia Syndrome	Neural tube defect, Macrotia	OMIM:600776
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormality of the ureter, Fu...	ORPHA:2522
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Irritability, Myopathy	OMIM:618237
Progressive Non-Fluent Aphasia	Brain neoplasm	ORPHA:100070
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia...	OMIM:187600
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Midface retrusion, Short nail, Short neck, Hypertelorism, Ky...	ORPHA:420794
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co...	ORPHA:391408
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:610651
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Frontal bossing, Arachnodactyly, Hypospadias, Sandal gap, Congenit...	OMIM:617602
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Deeply set eye, Poliosis	OMIM:141300
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Conical tooth	OMIM:617475
Neurofibromatosis-Noonan Syndrome	Multiple cafe-au-lait spots, Cryptorchidism, Dysphagia, Hypertelorism	ORPHA:638
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav...	ORPHA:98855
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract...	OMIM:259450
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Deeply set eye, Clinodact...	ORPHA:464306
Typical Nemaline Myopathy	Facial palsy, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Spinal rigidity, Hip disloca...	ORPHA:171436
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos...	OMIM:255200
Lopes-Maciel-Rodan Syndrome	Kyphosis, Small hand, Dysphagia, Short foot, Agitation, Scoliosis, Bruxism, Abnormal repetitive m...	OMIM:617435
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Deeply set eye, N...	ORPHA:508533
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va...	OMIM:309350
Perlman Syndrome	Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Deeply set eye, Dolichocephaly...	ORPHA:2849
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu...	OMIM:613390
Pontocerebellar Hypoplasia, Type 3	Proptosis, Brachycephaly	OMIM:608027
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis	OMIM:617404
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing...	ORPHA:2980
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Cryptorchidism, Irritability, Premature pubarche	ORPHA:457205
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti...	ORPHA:56304
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture...	OMIM:305620
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ...	OMIM:157980
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Brachydactyly, Highly arched eyebrow, Ectopic kidney, Pectus excavatum, Crypto...	ORPHA:1519
Holzgreve Syndrome	Abnormal morphology of ulna, Abnormal rib morphology, Webbed neck, Hand polydactyly, Abnormal met...	ORPHA:2167
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc...	ORPHA:783
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Hypertelorism, Aggressive behavior, Cryptorchidism, Synophrys, Low anterio...	OMIM:615009
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Micromelia, Bo...	OMIM:200600
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long eyelashes, Anony...	OMIM:616455
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Shallow orbits, Spina bifida occulta, Hypoplastic cervical v...	OMIM:150250
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Sensorineural hearing impairment, Protruding ear	ORPHA:435938
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Midface retrusion, Frontal bossing, Short neck, Hypertelorism, Cryptor...	OMIM:616894
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H...	ORPHA:1507
Fetal Akinesia Deformation Sequence 2	Cryptorchidism, Flexion contracture, Hypertelorism	OMIM:618388
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,...	ORPHA:1788
Werner Syndrome	Renal neoplasm, Skeletal muscle atrophy, Acral lentiginous melanoma, Breast carcinoma, Squamous c...	ORPHA:902
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hypogonadism, Hypertelorism, ...	ORPHA:1295
Dextrocardia	Congenital hip dislocation, Hydrocephalus, Abnormal rib morphology, Webbed neck, Neuroblastoma	ORPHA:1666
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Sparse scalp hair, Hypoplastic isch...	ORPHA:85201
Noonan Syndrome 14	Curly hair, Scapular winging, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Sparse eyeb...	OMIM:619745
Distal Deletion 3P	Sacral dimple, Short neck, Hypertelorism, Cryptorchidism, Postaxial hand polydactyly, Brachycepha...	ORPHA:1620
1P36 Deletion Syndrome	Hypoplasia of penis, Brachycephaly, Renal cyst, Deeply set eye, Clinodactyly of the 5th finger, A...	ORPHA:1606
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Temtamy Syndrome	Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia	OMIM:218340
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Decreased muscle mass, Impulsivity, Ectopic kidney, Cr...	ORPHA:3027
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility, Wide anteri...	ORPHA:357058
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Thick eyebrow, Small scrotum, Cryptorchidism, Synophrys, Broad nail, Scoliosis, Hirsutism, Short ...	ORPHA:1970
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95717
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S...	ORPHA:352447
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular...	ORPHA:73230
Noonan Syndrome 6	Curly hair, Long eyebrows, Short neck, Pectus excavatum, Cryptorchidism, Hypertelorism, Low poste...	OMIM:613224
Alg9-Cdg	Short neck, Brachycephaly, Narrow greater sciatic notch, Shallow orbits, Rhizomelia, Hypoplasia o...	ORPHA:79328
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
Cardiofacioneurodevelopmental Syndrome	Hypertelorism, Cryptorchidism, Kyphosis, Hypotelorism, Aplasia/Hypoplasia of the nails, Camptodac...	OMIM:619123
Squalene Synthase Deficiency	Hypospadias, Bilateral cryptorchidism, Elbow flexion contracture, 2-3 toe syndactyly, Abnormality...	OMIM:618156
Frank-Ter Haar Syndrome	Camptodactyly of finger, Hypertelorism, Kyphosis, Deeply set eye, Scoliosis, Abnormal metacarpal ...	ORPHA:137834
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone st...	OMIM:614732
Orofaciodigital Syndrome V	Frontal bossing, Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Hypertelorism, Pos...	OMIM:174300
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Trichiasis, Pectus excavatum, Kyphosis, Sparse eyebrow, Deeply set eye, Radial devia...	OMIM:609944
Xq12-Q13.3 Duplication Syndrome	Hypertelorism, Pectus excavatum, Cryptorchidism, Bulimia, 2-3 toe syndactyly, Cutaneous finger sy...	ORPHA:314389
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubula...	OMIM:253000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Midface retrusion, Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kypho...	OMIM:301040
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Kyphosis, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle w...	OMIM:614409
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S...	ORPHA:457279
Orofacial Cleft 15	Sparse eyelashes, Single transverse palmar crease, Hypertelorism, Sparse eyebrow, Cryptorchidism,...	OMIM:616788
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Talipes equinovarus	OMIM:619972
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Thin ribs, Delayed ossification...	OMIM:618395
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism,...	ORPHA:250999
Ring Chromosome 7 Syndrome	Hypospadias, Single transverse palmar crease, Highly arched eyebrow, Hyperpigmented nevi, Small h...	ORPHA:1449
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Short neck, A...	ORPHA:1865
Multiple Endocrine Neoplasia Type 4	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ...	ORPHA:276152
Osteogenesis Imperfecta, Type Xi	Protrusio acetabuli, Kyphoscoliosis, Brachycephaly, Coxa vara, Vertebral wedging, Scoliosis, Bico...	OMIM:610968
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Horizontal ribs, Pancreatic cysts, Early ossificat...	OMIM:208500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Retrognathia, Arachnodactyly	OMIM:619092
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Thickened calvaria, Abnormality of the vertebral spinous proces...	ORPHA:1299
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypertelorism, Aggressive behavior, Cryptorc...	OMIM:619075
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Frontal bossing, Rhizomelia, Micromelia, Craniosynostosis, Elb...	ORPHA:93329
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Long clavicles, Postaxial polydactyly, M...	ORPHA:397715
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Large for ges...	ORPHA:96334
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Brachycephaly, Methylmalonic aciduria	OMIM:309541
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinodactyly of the 5th finger	ORPHA:3454
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meni...	ORPHA:1393
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th...	ORPHA:249
Ichthyosis, X-Linked	Cryptorchidism, Palmar hyperlinearity, Palmoplantar keratoderma, Testicular neoplasm	OMIM:308100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Hypertelorism, Cryptorchidism, Renal hypoplasia, Patellar hy...	ORPHA:464288
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypospadias, Bilateral cryptorchidism, Agitation, Micropenis	OMIM:618840
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Hydrocephalus, Knee flexion c...	OMIM:603387
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Flexion contracture, Diastasis recti	OMIM:608149
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Single transverse palmar crease, Aminoaciduria, Ulnar deviation of the hand or of f...	OMIM:214100
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Neoplasm, Hep...	ORPHA:373
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Broad long bones, Short tubular bones of the hand, Short ...	OMIM:200610
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Generalized ...	ORPHA:994
3Mc Syndrome 2	Torticollis, Hypospadias, Diastasis recti, Limited elbow movement, Highly arched eyebrow, Hyperte...	OMIM:265050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Thin upper lip vermilion, Delayed cranial suture closure, Severe generalized ost...	OMIM:210730
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Postaxial polydactyly, Aggressive behavior, Cryptorchidism, Synophrys, Proximal re...	OMIM:615824
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Low anterior hairline, Coxa vara, Wrist flexion ...	ORPHA:800
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98793
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Pfeiffer Syndrome Type 2	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93259
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Brachycephaly, Hypertelorism	OMIM:613456
Skin Creases, Congenital Symmetric Circumferential, 1	Hypertelorism, Pectus excavatum, Long fingers, Short neck, Brachycephaly, Hypoplastic nipples	OMIM:156610
Mend Syndrome	Sacral dimple, Hyperactivity, Broad hallux, Overlapping toe, Hypertelorism, Aggressive behavior, ...	ORPHA:401973
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Highly arched eyebrow, Hyperteloris...	ORPHA:293967
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Congenital diaphragmati...	ORPHA:199
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat...	ORPHA:239
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Malar flatt...	OMIM:269500
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Genu valgum, Small pituitary gland, Micropenis, Decreased tes...	OMIM:614880
Peroxisome Biogenesis Disorder 2A (Zellweger)	Turricephaly, Single transverse palmar crease, Hypertelorism, Metatarsus adductus, Cryptorchidism...	OMIM:214110
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Kleefstra Syndrome Due To A Point Mutation	Tapered finger, Precocious puberty, Brachycephaly, Plagiocephaly, Self-injurious behavior, Vesico...	ORPHA:261652
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:98754
Neurofibromatosis-Noonan Syndrome	Pectus excavatum of inferior sternum, Pectus excavatum, Neurofibroma, Lisch nodules, Plexiform ne...	OMIM:601321
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Short neck, Hypertelorism, Cryptorchidism, Duplication of phalanx of hallu...	OMIM:243310
Stevenson-Carey Syndrome	Brachycephaly, Hip dysplasia, Scoliosis, Camptodactyly, Joint contracture of the hand	OMIM:611961
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177904
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Flexion contractu...	OMIM:180849
Bainbridge-Ropers Syndrome	Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Deeply set eye, S...	OMIM:615485
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Hyperlordosis, Pectus excavatum, Cryptorchidism, Short neck, Kyphosis,...	ORPHA:2789
Silver-Russell Syndrome 1	Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger,...	OMIM:180860
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Broad hallux, Facial hypotonia, Postaxial polydactyly, Unilateral renal agenesis, ...	ORPHA:457284
Birk-Aharoni Syndrome	Cryptorchidism, Dolichocephaly, Micropenis, Midface retrusion, Thick eyebrow	OMIM:620071
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Barrel-shaped chest, Abnormally ossified vertebrae...	ORPHA:94068
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head, Obesity	OMIM:616629
Aica-Ribosiduria	Fused labia minora, Brachycephaly, Clitoral hypertrophy	ORPHA:250977
Fetal Hydantoin Syndrome	Bifid scrotum, Hypoplastic fingernail, Hypertelorism, Cryptorchidism, Low posterior hairline, Coa...	ORPHA:1912
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Joubert Syndrome 14	Encephalocele, Posteriorly rotated ears, Hydrocephalus, Meningocele, Optic atrophy, Coloboma, Low...	OMIM:614424
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Deep palmar crease, Short philtrum, Retrognathia, Smooth philtrum, Adducted thumb	ORPHA:293725
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Frontal bossing, Toe syndactyly, Cryptorchidism, Vesicoureteral reflux, Dep...	ORPHA:250989
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Short neck, Hemivertebrae, Hypotelorism, Finger clinodactyly, Ab...	ORPHA:99776
Eem Syndrome	Carious teeth, Finger syndactyly, Ectrodactyly	ORPHA:1897
Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Pectus excav...	ORPHA:98853
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:177901
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Thin ribs, Slender long bone, Arthrogryposis multiplex congenita, Retrognathia, Bra...	OMIM:618265
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism, Sacral dimple	OMIM:273390
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse pal...	ORPHA:2886
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Frontal bossing, Hyperactivity, Small scrotum, Cryptorchidism, Hypotelorism, Deeply set eye, Micr...	OMIM:300486
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Cryptorchidism, Abnormal 5th finger morpholog...	ORPHA:1439
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Highly arched eyebrow, Cryptorchidism, Plagiocephaly, Short 5th finger, Scoliosis, A...	ORPHA:500159
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Cryptorchidism, Proptosis, Scoliosis, Male hypogonadism, Joint contracture	OMIM:615381
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Iris coloboma, Spina bifida	ORPHA:1104
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Short neck, Epispadias, Hemivertebrae, Coxa vara, Abnormal form ...	ORPHA:3107
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky...	OMIM:615084
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Hyperteloris...	ORPHA:93260
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Short neck, Hypertelorism, Kyphosis, Macrogl...	ORPHA:61
Cohen Syndrome	Low anterior hairline, Abnormality of skin pigmentation, Clinodactyly of the 5th finger, Finger s...	ORPHA:193
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubula...	OMIM:253010
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Single transverse palmar crea...	OMIM:615777
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Hypospadias, Abnormal hair pattern, Pectus excavatum, Cryptorch...	ORPHA:1786
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly	ORPHA:1445
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Wiedemann-Rautenstrauch Syndrome	Short neck, Flexion contracture, Brachycephaly, Hypotelorism, Deeply set eye, Hypoplasia of the t...	OMIM:264090
Immunodeficiency 9	Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Isolated Hemihyperplasia	Cryptorchidism, Scoliosis	ORPHA:2128
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Short neck, Kyphoscoliosis,...	OMIM:302960
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Micropenis, Flexion contracture, Hypospadias	OMIM:618815
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Overweight, Joint contracture of the 5th finger, ...	OMIM:619562
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Distichiasis	ORPHA:2598
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Cryptorchidism, Amelia involving the upper limbs, Acromelia o...	ORPHA:1027
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Obesity	ORPHA:163681
13Q12.3 Microdeletion Syndrome	Hyperactivity, Kyphoscoliosis, Congenital diaphragmatic hernia, Cryptorchidism, Hip dysplasia, Ca...	ORPHA:412035
Koolen-De Vries Syndrome	Hypotelorism, Vesicoureteral reflux, Prominent fingertip pads, Iris hypopigmentation, Vertebral f...	OMIM:610443
Kagami-Ogata Syndrome	Diastasis recti, Large for gestational age, Coxa valga, Large placenta, Micrognathia, Bell-shaped...	ORPHA:254519
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Hypertelorism, Kyphosis, Synophrys, Small hand, Genu valg...	OMIM:618443
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Triploidy	Omphalocele, Intrauterine growth retardation	ORPHA:3376
Congenital Disorder Of Glycosylation, Type Iit	Sandal gap, Urinary incontinence, Hypertelorism, Small hand, Brachycephaly, Pineal cyst, Short foot	OMIM:618885
Wieacker-Wolff Syndrome	Facial palsy, Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Hip dislocation, ...	OMIM:314580
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Cryptorchidism, Vertebral segmentation defect, Multiple renal cy...	ORPHA:1166
Holoprosencephaly	Encephalocele, Short neck, External ear malformation, Hydrocephalus, Optic atrophy, Anosmia, Spin...	ORPHA:2162
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Skeletal muscle atrophy, Trichiasis, Kyphoscoliosis, Brachycephaly, Nail dysplasi...	OMIM:601701
Rin2 Syndrome	Sparse scalp hair, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidis...	ORPHA:217335
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity	OMIM:615989
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Increased nuchal translucency, Coloboma, Branchial anomaly, Abnormal autonomic nervous system phy...	ORPHA:453499
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Cryptorchidism, Deeply set eye, Attention deficit hyperactivity disord...	OMIM:618504
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve...	ORPHA:93932
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Cryptorchidism, Alopecia of scalp, Excessive wrinkling of palmar skin	OMIM:210700
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Trigonocephaly, Cryptorchidism, Postaxial hand poly...	OMIM:211750
3Mc Syndrome	Diastasis recti, Highly arched eyebrow, Hyperlordosis, Bilateral cryptorchidism, Supernumerary ni...	ORPHA:293843
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Low anterior hairline, Brachycephaly, Deeply set eye, Prominent fingertip pads, Self-...	OMIM:619950
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Abnormal rib morphology, Retrognathia, Short foot, We...	ORPHA:488434
Distal Duplication 17Q	Hallux valgus, Frontal bossing, Hyperactivity, Rhizomelia, Overlapping toe, Arachnodactyly, Hyper...	ORPHA:3379
Kapur-Toriello Syndrome	Single transverse palmar crease, Camptodactyly of finger, Short neck, Cryptorchidism, Short thumb...	OMIM:244300
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ...	OMIM:211350
Scarf Syndrome	Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum	OMIM:312830
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Amish Lethal Microcephaly	Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Decreased skull ossi...	ORPHA:99742
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cryptorchidism, Hypoplasia of penis, Hypospadias, Genu valgum	ORPHA:1381
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia	ORPHA:261102
Baralle-Macken Syndrome	Urinary incontinence, Tapered finger, Kyphosis, Cafe-au-lait spot, Hirsutism	OMIM:619255
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Wide anterior fontanel, An...	OMIM:275210
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, 3-Methylglutaric aciduria, Single transverse palmar crease	OMIM:250951
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Cryptorchidi...	ORPHA:568
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Finger syndactyly, Anal atresia, Bilateral cleft lip and palate	ORPHA:1997
Alpha-Mannosidosis, Infantile Form	Facial hypotonia, Highly arched eyebrow, Short neck, Pectus excavatum, Hypertelorism, Craniosynos...	ORPHA:309282
Johnson Neuroectodermal Syndrome	Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi...	ORPHA:2316
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking ...	OMIM:230650
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypoplastic fingernail, Hypospadias, Frontal bossing, Sho...	ORPHA:7
Au-Kline Syndrome	Vertebral segmentation defect, Shallow orbits, Vesicoureteral reflux, Clinodactyly of the 5th fin...	OMIM:616580
Parietal Foramina 1	Wormian bones, Encephalocele, Cleft palate	OMIM:168500
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Decreased muscle mass, Short neck, Pectus excavatum, Crypto...	OMIM:130720
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent...	ORPHA:1234
Mend Syndrome	Sacral dimple, Hyperactivity, Broad hallux, Overlapping toe, Long fingers, Cryptorchidism, Kyphos...	OMIM:300960
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Visceral angiomatosis, Neoplasm, Hand polydactyly, Foot polyda...	ORPHA:60040
Xfe Progeroid Syndrome	Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring	OMIM:610965
Hypophosphatasia	Bowing of the long bones, Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest	ORPHA:436
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Supern...	ORPHA:217346
Fontaine Progeroid Syndrome	Small scrotum, Hypoplasia of the abdominal wall musculature, Synophrys, Low anterior hairline, Br...	OMIM:612289
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Brachycephaly, Lower limb hypertonia, Scoliosis, Brachydactyly	OMIM:619995
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac...	OMIM:254090
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Hypopigmentation of hair, Arachnodactyly, Hypospadias, Ab...	ORPHA:96169
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Posterior ...	OMIM:615873
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Frontal bossing, Hypospadias, Decreased response to growth hormone stimula...	OMIM:618336
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Short me...	ORPHA:192
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Hyperactivity, Hypermelanotic macule, Pectus excavatum, Cryptorchidism, Broad palm, H...	OMIM:618505
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Pectus excavatum, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contrac...	ORPHA:3042
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Join...	OMIM:235510
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Hypoplasia of penis, Sandal gap, Supernumerary nipple, Hypertelorism, Pectus exc...	ORPHA:1812
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, S...	OMIM:619638
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Sp...	OMIM:252600
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Low anterior hairline, Brachycephaly, Deeply set eye, Horizontal eyebrow, Vesicoure...	OMIM:618797
Meier-Gorlin Syndrome 1	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contr...	OMIM:224690
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Frontal bossing, Supernumerary nipple, Cryptorchidism, Apl...	ORPHA:3255
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Frontal bossing, Supernumerary nipple, Hypertelorism, Impulsivity, Cryptorchidism, Synophrys, Low...	OMIM:618929
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, T...	ORPHA:59315
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Native American Myopathy	Joint laxity, Micrognathia, Cleft palate, Downturned corners of mouth, Congenital contracture, Hi...	ORPHA:168572
Distal Triplication 15Q	Arachnodactyly, Abnormal external genitalia, Craniosynostosis, Hypertelorism, Kyphosis, Flexion c...	ORPHA:314588
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ...	OMIM:303600
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture, Brachycephaly	OMIM:620240
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Malar flat...	ORPHA:1787
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Haddad Syndrome	Neuroblastoma, Aganglionic megacolon, Ganglioneuroma	ORPHA:99803
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hyperactivity, Frontal bossing, Hypospadias, Diastasis recti, Hypertelorism, Cryptorc...	ORPHA:457485
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Cryptorchidism, Clinodactyly, Scoliosis, Limb hypertonia	OMIM:620316
Ogden Syndrome	Frontal bossing, Torticollis, Broad hallux, Cryptorchidism, Fine hair, Proptosis, Scoliosis, Apla...	ORPHA:276432
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter	OMIM:617577
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Long palm, Single transverse palmar crease, Ovoid vertebral bodies, H...	OMIM:244450
Lymphedema-Distichiasis Syndrome	Fibrosarcoma, Cleft palate	ORPHA:33001
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Frontal bossing, Arachnodactyly, Kyphosis, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Alopecia, Tapered toe, Sparse eyelashes, Sparse scalp hair, Tapere...	ORPHA:544488
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia...	OMIM:313400
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Esophageal atresia, Deep ph...	OMIM:610536
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Single transverse palmar crease, Metaphyseal widening, Flexion contr...	ORPHA:536471
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal femur morphology, Upper limb asymmetry,...	ORPHA:2063
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Scoliosis	ORPHA:893
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Hartsfield Syndrome	Syndactyly, Craniosynostosis, Alobar holoprosencephaly, Cleft palate, Lobar holoprosencephaly, Ec...	OMIM:615465
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Sacral dimple, Hypertelorism, Pectus excavatum, Kyphosis, Enlarged kidney	OMIM:618272
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Small scrotum, Skeletal muscle atrophy, Camptodactyly of ...	ORPHA:2990
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing...	OMIM:619149
Oculocerebrofacial Syndrome, Kaufman Type	Absent eyebrow, Flat occiput, Arachnodactyly, Brachycephaly, Thin eyebrow, Clitoral hypertrophy	ORPHA:2707
Joubert Syndrome 27	Polydactyly	OMIM:617120
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Micromelia, Hypoplastic...	ORPHA:1860
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Hypogonadotropic hypogonadism, Trigonocephaly, Tapered finger, Hypertelorism...	OMIM:617159
Postaxial Acrofacial Dysostosis	Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Delayed closure...	OMIM:614008
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ...	OMIM:611134
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Turricephaly, Cloverleaf skull, Craniosynostosis, Hypertelorism, Palmoplantar cuti...	ORPHA:1555
Roberts-Sc Phocomelia Syndrome	Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Phocomelia,...	OMIM:268300
Cerebrooculonasal Syndrome	Frontal bossing, Sparse eyelashes, Postaxial polydactyly, Hypertelorism, Sparse eyebrow, Probosci...	OMIM:605627
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Po...	ORPHA:314655
Joubert Syndrome 33	Syndactyly	OMIM:617767
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Ethmoidal encephalocele	ORPHA:280195
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Ureteral duplication, Curly hair, Short neck, Pectus excava...	OMIM:610733
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Large fontanelles, High palate,...	OMIM:612940
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb...	OMIM:619314
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ...	ORPHA:169189
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Coarse hair, Narrow greater sciatic notch, Anterior beaking of l...	OMIM:253220
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Ulnar bowing, Short...	OMIM:619135
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Kyphoscoliosis, Brachycephaly, Plagiocephaly, Sparse hair, Vertebral compr...	OMIM:618644
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele	OMIM:601927
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Torticollis, Micrognathia, Increased variability in muscle fiber diameter, Fe...	OMIM:617022
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Celiac Disease, Susceptibility To, 1	Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis	OMIM:212750
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Hypercalciuria, Renal c...	OMIM:615398
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Hip...	OMIM:618494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E...	OMIM:618138
Marshall Syndrome	Frontal bossing, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Brachycephaly, Genu valgum, Pro...	ORPHA:560
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus...	ORPHA:2771
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Synophrys, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular ...	OMIM:610442
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Distal widening of metacar...	OMIM:602535
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Long eyebrows, Hypertelorism, Pectus excavatum, Widow's peak, Brachycephaly, Lo...	OMIM:201180
Baller-Gerold Syndrome	Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Abnormal verteb...	OMIM:218600
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Sparse scalp hair, Hypospadias, Single transverse palmar crease, Overlapping t...	ORPHA:464738
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Facial palsy, Cryptorchidism, Flexion contracture, Slender toe, Dolichocephaly, D...	OMIM:310400
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Deeply set eye, Tapere...	OMIM:613458
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ...	OMIM:300990
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Prader-Willi Syndrome Due To Translocation	Flat occiput, External genital hypoplasia, Decreased response to growth hormone stimulation test,...	ORPHA:177907
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph...	ORPHA:1018
Neuroblastoma, Susceptibility To, 1	Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma	OMIM:256700
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Urinary incontinence, Hypertelorism, Kyphosis,...	ORPHA:464282
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Single transver...	OMIM:300998
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd...	OMIM:619879
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Hypertelorism, Kyphosis, Macroglossia, Sc...	ORPHA:79107
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger	ORPHA:2759
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia	OMIM:243150
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Intellectual Developmental Disorder, Autosomal Dominant 47	Supernumerary nipple, Cryptorchidism, Deeply set eye, Thin eyebrow, Scoliosis	OMIM:617635
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia	OMIM:222448
Cerebellofaciodental Syndrome	Single transverse palmar crease, Tapered finger, Short neck, Cryptorchidism, Sparse eyebrow, Aggr...	OMIM:616202
Noonan Syndrome 8	Curly hair, Short neck, Hypertelorism, Cryptorchidism, Palmoplantar cutis laxa, Left ventricular ...	OMIM:615355
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, A...	OMIM:268400
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Highly arched eyebrow, Dolichocephaly, Cryptorchidism, Kyphosis, Increased femor...	OMIM:619005
Waardenburg Syndrome Type 1	Aganglionic megacolon, Spina bifida, Congenital sensorineural hearing impairment, Meningocele, He...	ORPHA:894
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Pectus excavatum, Cryptorchidism, Aplasia of the abdomin...	OMIM:100100
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Broad skull, Broad palm, Spinal canal stenosis, Brachycephaly, Scoliosis, S...	OMIM:277600
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia	ORPHA:1834
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco...	ORPHA:2671
Oligomeganephronia	Branchial cyst, Optic disc coloboma, Hearing impairment	ORPHA:2260
Frontofacionasal Dysplasia	Hypertelorism, Brushfield spots, Brachycephaly, Absent inner eyelashes, Midface retrusion, Aplasi...	ORPHA:1791
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Hypoplasia ...	OMIM:614841
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Microretrognathia, Congenital hip dislocation, Scapular wi...	OMIM:278250
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Frontal bossing, Craniosynostosis, Abs...	ORPHA:166035
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati...	OMIM:143095
Turner Syndrome Due To Structural X Chromosome Anomalies	Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin...	ORPHA:99413
Mosaic Monosomy X	Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin...	ORPHA:99228
Monosomy X	Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin...	ORPHA:99226
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow...	OMIM:609220
Turner Syndrome	Short neck, Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fin...	ORPHA:881
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Silver-Russell Syndrome	Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Sandal gap, Precociou...	ORPHA:813
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint, Obesity	ORPHA:2234
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal hip bone morpho...	ORPHA:1323
Noonan Syndrome 9	Curly hair, Hydroureter, Short neck, Sparse eyebrow, Cryptorchidism, Hypertelorism	OMIM:616559
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Rere-Related Neurodevelopmental Syndrome	Frontal bossing, Hypospadias, Cryptorchidism, Self-injurious behavior, Hip dysplasia, Scoliosis, ...	ORPHA:494344
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Short neck, Synophrys, Brachycephaly, Hypotelorism, Deeply set e...	OMIM:612474
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Abnormality of the hand, Tapered finger, Pectus excavatum, Unilateral radia...	ORPHA:476126
Atypical Rett Syndrome	Restrictive behavior, Kyphosis, Tongue thrusting, Small hand, Short foot, Agitation, Inappropriat...	ORPHA:3095
Dystonia-Deafness Syndrome 1	Cleft palate, Hypoplastic scapulae, Femoral retroversion, Cleft upper lip	OMIM:607371
Bohring-Opitz Syndrome	Joint dislocation, Syndactyly, Bilateral cleft palate, Prominent metopic ridge, Overlapping toe, ...	OMIM:605039
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In...	OMIM:110100
Camurati-Engelmann Disease	Skeletal muscle atrophy, Anorexia, Abnormal tibia morphology, Abnormal femur morphology, Cortical...	ORPHA:1328
Hallermann-Streiff Syndrome	Frontal bossing, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptor...	ORPHA:2108
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Hypertelorism, Aggressive behavior, Cryptorchidism, Short toe, Widely spaced toes...	ORPHA:404443
Thanatophoric Dysplasia Type 2	Frontal bossing, Cloverleaf skull, Micromelia, Kyphosis, Platyspondyly, Proptosis, Abnormal metap...	ORPHA:93274
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Cardiofaciocutaneous Syndrome	Brittle hair, Short neck, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Abnormal mor...	ORPHA:1340
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Hypospadias, Metatarsus adductus, 2-3 toe syndactyly, Brachycephaly, Pseudo...	OMIM:611962
Intellectual Developmental Disorder, X-Linked 93	Cryptorchidism, Frontal bossing	OMIM:300659
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Flat occiput, Congenital diaphragmatic hernia, Short neck, Pectus excavatum, Crypt...	OMIM:614294
Elsahy-Waters Syndrome	Bifid scrotum, Thick eyebrow, Hypospadias, Hypertelorism, Pectus excavatum, Bilateral cryptorchid...	OMIM:211380
Desmosterolosis	Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu...	ORPHA:35107
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Broad proximal phalanges of the hand, Abnormal hair morphology, Short foot, Hype...	OMIM:607597
Dyskeratosis Congenita, Digenic	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	OMIM:620040
Gm1 Gangliosidosis	Frontal bossing, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the abdo...	ORPHA:354
Cranioectodermal Dysplasia 3	Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, S...	OMIM:614099
Hypomandibular Faciocranial Dysostosis	Craniosynostosis, Brachycephaly, Proptosis, Trigonocephaly, Abnormal morphology of female interna...	ORPHA:1790
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal...	ORPHA:198
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Ungual fibroma	ORPHA:1433
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Broad skull, Short metatarsal, Broad palm, Elbow flexion ...	OMIM:608328
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio...	OMIM:134780
White-Sutton Syndrome	Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Hypertelorism, Short neck, Aggr...	ORPHA:468678
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Craniosynostosis And Dental Anomalies	Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos...	OMIM:614188
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Contracture of the proxim...	OMIM:618109
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Webbed neck,...	OMIM:620076
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Fused labia minora, Brachycephaly, Elevated urinary 5-amino-4-imidazolecarboxami...	OMIM:608688
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, High palate, Widely spaced teeth, Clinodactyly of the...	OMIM:266920
Shashi-Pena Syndrome	Short metacarpal, Highly arched eyebrow, Unilateral renal agenesis, Hypertelorism, Kyphosis, Syno...	OMIM:617190
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Flat occiput, Short neck, Hypertelorism, Cryptorchidism, Postaxial hand polydactyly, Pancreatic l...	OMIM:235255
Mucolipidosis Iii Gamma	Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Gen...	OMIM:252605
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Primary amenorrhea, Ectrodactyly, Mi...	OMIM:147950
16Q24.3 Microdeletion Syndrome	Frontal bossing, Proximal placement of thumb, Highly arched eyebrow, Abnormal hair pattern, Crypt...	ORPHA:261250
N Syndrome	Cryptorchidism, Hypospadias	OMIM:310465
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Hypertelorism, Cryptorchidism, Genu valgum, Low posterior hairline, Shawl scrotum, Cubitus valgus	ORPHA:1778
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hypoplasia of the femoral head, Hypertelor...	OMIM:607014
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, Mi...	OMIM:613848
Takenouchi-Kosaki Syndrome	Midface retrusion, Hypospadias, Overlapping toe, Proximal placement of thumb, Tapered finger, Hig...	OMIM:616737
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Radio-Renal Syndrome	Multicystic kidney dysplasia, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of ...	ORPHA:3015
Sotos Syndrome	Frontal bossing, Hypertelorism, Sparse eyebrow, Cryptorchidism, Aggressive behavior, Long metacar...	OMIM:117550
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,...	ORPHA:2092
Trisomy 18	Microretrognathia, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia, Postax...	ORPHA:3380
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Short neck, Crypt...	ORPHA:251071
Recombinant 8 Syndrome	Small scrotum, Camptodactyly of finger, Hypertelorism, Pectus excavatum, Cryptorchidism, Abnormal...	ORPHA:96167
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs...	ORPHA:171430
Cowden Syndrome 1	Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Fibroadenoma of the breast, Brea...	OMIM:158350
Proximal Xq28 Duplication Syndrome	Pectus excavatum, Cryptorchidism, Hypospadias	ORPHA:1762
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Truncal obesity, Abnormal metacarpal morphology	ORPHA:3224
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra...	OMIM:607155
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Treacher-Collins Syndrome	Frontal bossing, Hypoplasia of penis, Small scrotum, Hypertelorism, Absent eyelashes, Cryptorchid...	ORPHA:861
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Aplasia of the ulna, Sh...	ORPHA:2879
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Hypertelorism, Cryptorchidism, Male pseudohermaphroditi...	ORPHA:847
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Short metatarsal, Low anter...	OMIM:617137
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Short neck, Brachycephaly, Posterior plagiocephaly, Abnormal repetitive mannerisms...	OMIM:620330
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Pectus excavatum, Cryptorchi...	OMIM:619194
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Hypertelorism, Kyphosis, Hypertrichosis, Contracture of the proximal interphala...	OMIM:618050
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Cervical kyphosis, Decreased palmar creases, Tapered finger, Kyphoscoliosi...	ORPHA:2953
Doors Syndrome	Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Low anterior hairline, Brachyceph...	ORPHA:79500
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor...	OMIM:612292
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly	OMIM:119580
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Cryptorchidism, Split hand, Hypo...	ORPHA:1300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol...	OMIM:276820
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Abnormality of the abdominal wall, Camptodactyly, Intrauterine grow...	OMIM:247200
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal...	ORPHA:2920
Xylt1-Cdg	Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck, Short clavic...	ORPHA:370930
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Ayme-Gripp Syndrome	Sparse scalp hair, Tapered finger, Pectus excavatum, Hypertelorism, Brachycephaly, Radioulnar syn...	OMIM:601088
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Myocardial necrosis, Anterior rib cupping, Myelodysplasia, Metaphyseal sc...	OMIM:260400
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Arachnodactyly, Highly arched eyebrow, Coxa valga, Elbow dislocation, Cryptorchidism...	OMIM:620083
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Deeply set eye, Hip dysplasia, 3-Methylglutaconic aciduria, Scoliosis, Lower limb...	ORPHA:496790
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Chromosome 9P Deletion Syndrome	Omphalocele, Inguinal hernia	OMIM:158170
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Sandal gap, Proteinuria, Decreased fibular diameter, Pectus excavatum, Sparse ey...	OMIM:619127
Bardet-Biedl Syndrome 1	Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda...	OMIM:209900
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Midface retrusion, Flat occiput, Short neck, Hypertelorism, Cryptorchidism, Postaxial hand polyda...	ORPHA:1655
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:220295
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma...	ORPHA:90793
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul...	OMIM:610628
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Tented upper lip vermilion, Overlapping toe, Flexion contracture, High palate, Thick vermilion bo...	OMIM:619383
Chromosome 17Q12 Deletion Syndrome	Pica, Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebrow, Spar...	OMIM:614527
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Phalangeal dislocat...	ORPHA:536532
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Short neck, Hypertelorism, Cryptorchidism, Deep pal...	ORPHA:1752
Beck-Fahrner Syndrome	Facial hypotonia, Brachycephaly, Depression, Hip dysplasia, Attention deficit hyperactivity disorder	OMIM:618798
Fucosidosis	Decreased muscle mass, Kyphosis, Brachycephaly, Mucopolysacchariduria, Anterior beaking of lumbar...	ORPHA:349
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ...	ORPHA:280
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers...	OMIM:300219
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Short sternum, High pa...	OMIM:620113
Shprintzen-Goldberg Syndrome	Frontal bossing, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynosto...	ORPHA:2462
Multiple Pterygium Syndrome, X-Linked	Micrognathia, Flexion contracture, Thin ribs, Amyoplasia, Short finger, Intrauterine growth retar...	OMIM:312150
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Obesity, Downturned corner...	OMIM:619680
Duplication Of The Pituitary Gland	Thoracic scoliosis, Abnormal odontoid process morphology, Short neck, Hypertelorism, Abnormal pit...	ORPHA:314621
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairline, Sparse la...	ORPHA:1252
Robinow Syndrome	Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic...	ORPHA:97360
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Thoracic kyphosis, Short palm, Clinodact...	ORPHA:508498
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Dec...	ORPHA:955
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Hydrocephalus, Optic disc coloboma, Patent ductus arteriosus, Low posterior ha...	ORPHA:261337
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Joint laxity, Syndactyl...	OMIM:613610
Diabetic Embryopathy	Ureteral duplication, Frontal bossing, Cryptorchidism, Abnormal sacrum morphology, Aplasia/Hypopl...	ORPHA:1926
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Eleva...	ORPHA:90796
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:739
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, E...	ORPHA:2769
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:352665
Ohdo Syndrome, X-Linked	Small scrotum, Overlapping toe, Ulnar deviation of the hand, Hypertelorism, Sparse eyebrow, Crypt...	OMIM:300895
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Abnormal fingernail morphology, Unilateral hypoplasia of pectoralis major muscle, Sup...	ORPHA:1521
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Torticollis, Unilateral renal agenesis, Congenital dia...	OMIM:609029
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Wormian bones, Bowi...	OMIM:619131
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Costello Syndrome	Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Short neck, Abnorm...	ORPHA:3071
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Abnormal location of the eyebrow, Progressive flexion contractures, Equinus...	ORPHA:522077
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Adenylosuccinase Deficiency	Skeletal muscle atrophy, Hyperactivity, Aggressive behavior, Brachycephaly, Inappropriate laughte...	OMIM:103050
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Horses...	ORPHA:1724
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Flat occiput, Short neck, Pectus excavatum, Kyphosis, Talipes cavus equinovarus, S...	OMIM:300966
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Mosaic Trisomy 1	Microretrognathia, Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt...	ORPHA:1692
Noonan Syndrome	Abnormal hair quantity, Hypogonadotropic hypogonadism, Hypertelorism, Pectus excavatum, Cryptorch...	ORPHA:648
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Tall stature, Arachnodactyly, Hypoplasia of the musculature, Thenar mu...	ORPHA:2463
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Single transverse palmar crease, Hypertelorism, Cryptorchidism, 2-3 toe syndactyly, Clubbing of t...	ORPHA:3304
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Hypotelo...	OMIM:619488
Renpenning Syndrome 1	Brittle hair, Hypospadias, Phimosis, Pectus excavatum, Renal hypoplasia, Brachycephaly, Sparse ha...	OMIM:309500
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Tapered finger, Pectus excavatum, Cryptorchidism, Short t...	ORPHA:464311
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Ab...	ORPHA:818
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95716
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Meningocele, Chorioretinal coloboma, Protruding ear	ORPHA:2031
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr...	ORPHA:444072
Retinitis Pigmentosa 74	Polydactyly, Obesity	OMIM:616562
Teebi Hypertelorism Syndrome 1	Omphalocele	OMIM:145420
Faciocardiomelic Syndrome	Osteopenia, Large for gestational age, Micrognathia, Dental malocclusion, Wide mouth, Slender lon...	OMIM:612731
Leopard Syndrome 1	Scapular winging, Hypospadias, Limited elbow movement, Short neck, Pectus excavatum, Cryptorchidi...	OMIM:151100
Bartsocas-Papas Syndrome 1	Short neck, Bilateral cryptorchidism, Ectopic kidney, Flexion contracture, Hypoplastic iliac wing...	OMIM:263650
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia...	ORPHA:456328
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro...	ORPHA:99880
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Hemivertebrae, Gonadotropin deficiency, Micropenis, Paroxysmal bur...	ORPHA:672
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Hydrocephalus, Cutaneous syndactyly, High palate, Talipes equinova...	OMIM:617822
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Attention deficit h...	ORPHA:281090
Tyshchenko Syndrome	Thick hair, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Low anterior hairline, Proptosis	OMIM:615102
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han...	OMIM:612863
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Ante...	OMIM:619718
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Cryptorchidism, Small hand, Short foot, Scoliosis, Clinodactyly	ORPHA:96184
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, Cr...	OMIM:618653
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Abnormality of the hairline, Highly arched eyebrow, Hypertelorism, Spars...	ORPHA:3132
Microphthalmia, Syndromic 8	Cryptorchidism, Split foot	OMIM:601349
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Cryptorchidism, H...	OMIM:607143
Noonan Syndrome 2	Curly hair, Short neck, Pectus excavatum, Cryptorchidism, Sparse eyebrow, Hypertelorism, Low post...	OMIM:605275
Acromegaly	Dysmenorrhea, Synophrys, Wide penis, Pituitary prolactin cell adenoma, Abnormal toenail morpholog...	ORPHA:963
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Osteoporo...	OMIM:102500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Myopathy, Pigmentary retinopathy, Scoliosis	OMIM:618234
Congenital Disorder Of Deglycosylation 1	Restlessness, Facial hypotonia, Single transverse palmar crease, Hypertelorism, Heparan sulfate e...	OMIM:615273
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Intestinal pseudo-obstruction, Short palm, Ret...	ORPHA:73246
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Synophrys, Brachycephaly, Deeply set eye, Clinodactyly of the 5th finger, Self-mu...	OMIM:607872
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Missing ribs, Micrognathia, Hydrocephalus, Abnormal rib morphology,...	ORPHA:3301
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Arachnodactyly, Diastasis recti, Hypertelorism, Pectus excavatum, Cryptorchidism, Brachycephaly, ...	OMIM:601776
Myhre Syndrome	Short neck, Deeply set eye, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Hypertelorism,...	OMIM:139210
Thoracoabdominal Syndrome	Omphalocele, Congenital diaphragmatic hernia, Ventral hernia	OMIM:313850
Primary Ciliary Dyskinesia	Male infertility, Clubbing, Abnormal sperm motility, Female infertility	ORPHA:244
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped...	ORPHA:3144
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Robinow Syndrome, Autosomal Dominant 1	Short neck, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of han...	OMIM:180700
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Neurocutaneous Melanocytosis	Meningocele, Chorioretinal coloboma	ORPHA:2481
Oculoskeletodental Syndrome	Cryptorchidism, Elbow flexion contracture, Low anterior hairline, Hypercalciuria, Low posterior h...	OMIM:618440
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Deeply set eye, Micro...	ORPHA:268261
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis	OMIM:612702
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l...	ORPHA:143
Multiple Pterygium Syndrome, Lethal Type	Micrognathia, Flexion contracture, Thin ribs, Amyoplasia, Short finger, Intrauterine growth retar...	OMIM:253290
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Congenital hip dislocation	OMIM:164180
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Congenital Disorder Of Glycosylation, Type Ih	Hypertelorism, Short neck, Cryptorchidism, Talipes equinovarus, Camptodactyly	OMIM:608104
X-Linked Intellectual Disability, Seemanova Type	Skeletal muscle atrophy, Hypoplasia of the musculature, Hypertelorism, Cryptorchidism, Hypogonadism	ORPHA:85323
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cleft palate, ...	OMIM:616038
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Brachycephaly, Plagiocephaly, Deeply set eye, Lower limb hypertonia, Limb hypert...	OMIM:617296
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Irregular mens...	OMIM:616482
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Cryptorchidism, Short long bone, Talipes equinovarus, Calva...	OMIM:224410
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Obesity, Short fo...	ORPHA:1001
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Overlapping toe, Hypospadias, Hypertelorism, Aggressive behavior, Cryptorc...	ORPHA:163956
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Unilatera...	ORPHA:96170
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,...	ORPHA:3472
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transverse palmar cre...	OMIM:618143
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis, Squared ili...	OMIM:618000
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Absent thumb, Hypertelorism, Cryptorchidis...	ORPHA:96097
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Facial hypotonia, Dolichocephaly, Sparse eyebrow, Cryptorchidism, Long...	OMIM:617557
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Split hand...	OMIM:252500
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ...	OMIM:183900
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Single transverse palmar crease, Anterior pituitary hypoplasia, Synophry...	OMIM:619841
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Upper limb hypertonia	ORPHA:319199
Recessive X-Linked Ichthyosis	Cryptorchidism, Attention deficit hyperactivity disorder	ORPHA:461
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,...	ORPHA:1297
Constricting Bands, Congenital	Omphalocele, Bladder exstrophy, Gastroschisis	OMIM:217100
Hyperparathyroidism, Transient Neonatal	Frontal bossing, Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, ...	OMIM:618188
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly	OMIM:618087
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Decreased response to growth hormone stimulation test, Cryptorchidism, Small han...	OMIM:241410
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Short neck, Pectus...	OMIM:616145
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Hypospadias, Supernumerary nipple, Tapered finger, Sparse eyebrow, Cryptorchid...	ORPHA:477993
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Short neck, Hypoplastic toenails, Cryptorchidism, Drumstick terminal phalanges, Skull asymmetry, ...	OMIM:612938
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m...	ORPHA:306542
Sandhoff Disease	Kyphosis	ORPHA:796
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Plagiocephaly	ORPHA:77300
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Malar flattening, Wide distal f...	OMIM:269150
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Sparse pubic hair, Crypt...	OMIM:308700
Somatomammotropinoma	Dysmenorrhea, Synophrys, Pituitary prolactin cell adenoma, Abnormal toenail morphology, Generaliz...	ORPHA:314769
Congenital Disorder Of Glycosylation, Type Ij	Single transverse palmar crease, Aggressive behavior, Cryptorchidism, Flexion contracture, Clinod...	OMIM:608093
Achard Syndrome	Broad skull, Arachnodactyly, Brachycephaly	OMIM:100700
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Penoscrotal hypospadias, Hypospadias, Hyperpigmentation of the skin, Renal salt wasting, Female e...	ORPHA:90791
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Short neck, Hypertelorism, Crypt...	ORPHA:284160
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Spinal rigi...	OMIM:254940
Chime Syndrome	Aplastic clavicle, Hypertelorism, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocatio...	ORPHA:3474
Fanconi Anemia	Abnormal femur morphology, Abnormality of skin pigmentation, Abnormality of the uterus, Triphalan...	ORPHA:84
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead...	ORPHA:89936
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, Synophrys, Highly arched eyebrow, Pro...	OMIM:615803
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Carious teeth, Metaphyseal widening, Split hand,...	OMIM:253200
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Myelodysplasia, Nail pits, Premature graying of hair, Squamous cell carcin...	OMIM:127550
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost...	ORPHA:666
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Micrognathia	OMIM:601076
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Deep...	OMIM:136140
Spondylocostal Dysostosis 4, Autosomal Recessive	Missing ribs, Pectus excavatum, Myelomeningocele, Short thorax, Rib fusion, Hydrocephalus, Bell-s...	OMIM:613686
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Chromosome 18Q Deletion Syndrome	Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of thumb, Overlapping toe, Sh...	OMIM:601808
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Proteinuria, Kyphosis, Chronic kidney disease, Low anterior hairline, Attention d...	ORPHA:261222
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Highly arched eyebrow, Supernumerary nipple, Hypertelorism, Cryptorchidism, 2-3 to...	OMIM:618454
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Papillary...	ORPHA:363618
Jacobsen Syndrome	Flat occiput, Hypospadias, Trigonocephaly, Short neck, Pectus excavatum, Cryptorchidism, Abnormal...	OMIM:147791
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Pylori...	OMIM:263750
Gapo Syndrome	Joint hypermobility, Delayed closure of the anterior fontanelle, Micrognathia, High, narrow palat...	OMIM:230740
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Flexion contracture, Large fontanelles, Limitation of joint mobilit...	ORPHA:90153
Cowden Syndrome 6	Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamartomatous...	OMIM:615109
Cutis Laxa, Autosomal Recessive, Type Iiib	Hypertelorism, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Hip dislocation, F...	OMIM:614438
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Open bite, Abnormality of the ...	OMIM:115150
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Abnormal hair morphology, Kyphosis, Abnorm...	ORPHA:324737
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Single transverse palmar crease, Abnormal form of the vertebral bodies, Hy...	OMIM:194190
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Cone-shaped epiphysis, Sh...	OMIM:617088
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Synophrys, Scoliosis...	OMIM:619557
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho...	ORPHA:798
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Single transverse palma...	OMIM:607932
Monosomy 22	Schwannoma, Contractures of the large joints, Gonadal neoplasm, High palate, Meningioma, Sarcoma	ORPHA:96123
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Aggressive behavior, Kyphosis, Dysphagia, Limb hypertonia	ORPHA:500180
Tbck-Related Intellectual Disability Syndrome	Broad toe, Neurogenic bladder, Thick eyebrow, Skeletal muscle atrophy, Decreased response to grow...	ORPHA:488632
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Zttk Syndrome	Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p...	OMIM:617140
Alstrom Syndrome	Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormo...	OMIM:203800
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Short neck, Hypertelorism, Cryptorchidism, Pigmentary retinopathy, ...	OMIM:614230
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Pectus excavatum, Kyphosis, Long palm, Scoliosis	OMIM:300676
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size	OMIM:614897
Chops Syndrome	Curly hair, Thick hair, Hypertelorism, Cryptorchidism, Synophrys, Horseshoe kidney, Coarse hair, ...	OMIM:616368
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Trismus, Abnormal rib morphology, Palmoplantar hyperk...	ORPHA:2907
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Alg3-Cdg	Neural tube defect, Abnormal pinna morphology, Hearing impairment	ORPHA:79321
Noonan Syndrome 10	Curly hair, Left ventricular hypertrophy, Short neck, Pectus excavatum, Cryptorchidism, Sparse ey...	OMIM:616564
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Rabson-Mendenhall Syndrome	Enlarged ovaries, Thick hair, Onychauxis, Precocious puberty, Long penis, Low anterior hairline, ...	ORPHA:769
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Sprengel anomaly, Abnormal rib morphology, Webbed neck	OMIM:118100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans...	OMIM:617527
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Single transverse palmar crease, Hypertelorism, Kyphosis, 2-3 toe syndactyly, Scolio...	OMIM:616449
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Nephrolithiasis, Oligomenorrhea, Biconcave ...	OMIM:219090
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, Pect...	OMIM:616914
Developmental And Epileptic Encephalopathy 89	Omphalocele, Flexion contracture	OMIM:619124
Trisomy 10P	Thumb contracture, Wide cranial sutures, Abnormality of the hand, Micrognathia, Short toe, Orofac...	ORPHA:171929
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Craniosynostosis, Pectus excavatum, Precocious puberty, Upper limb undergrowt...	ORPHA:369837
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Anterior concavity of ...	OMIM:216340
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Steinert Myotonic Dystrophy	Endometrial carcinoma, Alopecia, Brain neoplasm, Skeletal muscle atrophy, Choroidal melanoma, Abn...	ORPHA:273
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe...	OMIM:619471
3-Methylglutaconic Aciduria, Type V	Hypospadias, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Diaphragmati...	OMIM:610198
Adrenal Hypoplasia, Congenital	Hypogonadotropic hypogonadism, Renal salt wasting, Precocious puberty, Cryptorchidism, Oligozoosp...	OMIM:300200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, Cryptorchidism, Ulnar d...	ORPHA:1101
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Decreased muscle mass, Hypospadias, Decreased respo...	ORPHA:96182
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Micrognathia, Rib fusion, Obesity,...	ORPHA:261197
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly	OMIM:602361
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, 3-Methylglutaconic aci...	ORPHA:1194
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Flexion contracture, Brachycepha...	OMIM:301072
Macs Syndrome	Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crease, Pectus excavatum, Cryp...	OMIM:613075
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79444
Multiple Benign Circumferential Skin Creases On Limbs	Localized neuroblastoma, Umbilical hernia, Upper limb asymmetry, Micrognathia	ORPHA:2505
Cog5-Cdg	Neurogenic bladder, Camptodactyly of finger, Urinary incontinence, Short neck, Cryptorchidism, Ge...	ORPHA:263487
Spermatogenic Failure 14	Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ...	OMIM:615842
D-Bifunctional Protein Deficiency	Osteopenia, Micrognathia, Split hand, Large fontanelles, Hammertoe, High palate, Talipes equinova...	OMIM:261515
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phalanx of finger, Genu var...	ORPHA:221008
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,...	OMIM:618106
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short metacarpal, Sacral dimple, Short neck, Hypertelorism, Short metatarsal, Re...	OMIM:617157
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unilate...	ORPHA:468631
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minor...	ORPHA:2510
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Cryptorchidism, Radial club hand...	OMIM:617053
X-Linked Intellectual Disability, Pai Type	Hydrocele testis, Cryptorchidism, Tapered finger	ORPHA:85322
Bloom Syndrome	Syndactyly, Decreased fertility in females, Cryptorchidism, Spotty hypopigmentation, Azoospermia,...	OMIM:210900
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size	OMIM:616030
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Micrognathia, Congenital contracture, Generalized amyot...	OMIM:208150
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Megalocornea-Intellectual Disability Syndrome	Frontal bossing, Tapered finger, Hypertelorism, Kyphosis, Scoliosis, Metatarsus valgus, Abnormal ...	ORPHA:2479
Sialidosis Type 2	Kyphosis, Nephropathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:87876
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxia...	OMIM:227646
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Pectus carinatum, Narrow grea...	OMIM:312870
Crisponi Syndrome	Kyphosis, Flexion contracture, Camptodactyly of finger, Scoliosis	ORPHA:1545
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
X-Linked Intellectual Disability, Armfield Type	Cryptorchidism, Abnormality of the elbow, Small hand, Brachycephaly, Short foot, Aminoaciduria, O...	ORPHA:85276
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Umbilical hernia	ORPHA:2241
Cohen-Gibson Syndrome	Thin nail, Coxa valga, Hypertelorism, Long fingers, Cryptorchidism, Flexion contracture, Flared m...	OMIM:617561
Central Hypoventilation Syndrome, Congenital, 1	Neuroblastoma, Aganglionic megacolon, Ganglioneuroma, Ganglioneuroblastoma	OMIM:209880
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Skeletal muscle atrophy, Anorexia, Pectus...	ORPHA:1969
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Hip dislocation, Talipes equinovarus, Wormian bones, Delayed cranial su...	OMIM:616603
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Supernumerary nipple	OMIM:619243
Fryns Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2059
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus stenosis, Hypoplastic ...	OMIM:616001
Proteus Syndrome	Central heterochromia, Decreased muscle mass, Abnormal finger morphology, Abnormal form of the ve...	ORPHA:744
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Pitt-Hopkins Syndrome	Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cryptorchidism...	ORPHA:2896
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Biparietal narrowing, Tapered finger	ORPHA:1920
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Sparse pubic hair, Cryptorchidism, Micr...	OMIM:308750
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Self-injurious behavior, Talipes equin...	ORPHA:261236
Mgat2-Cdg	Hypertelorism, Pectus excavatum, Kyphosis, Stereotypical hand wringing, Long eyelashes, Hypoplast...	ORPHA:79329
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Frontal bossing, Lumbar hyperlordosis, Hypospadias, Hypertelorism, Cryptorchidism, Wi...	OMIM:616975
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Hypotelorism, Deeply set eye, Abnormal repetitive mannerisms, H...	OMIM:619325
Cerebrofacioarticular Syndrome	Syndactyly, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Large fontanelles, Anteriorly...	ORPHA:314679
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Pseudotrisomy 13 Syndrome	Cyclopia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Renal hy...	OMIM:264480
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Hypospadias, Overlapping toe, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Cu...	OMIM:613026
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Severe sensorineural hearing impairment, Meningocele	ORPHA:2003
Tenorio Syndrome	Osteopenia, Joint laxity, Mandibular prognathia, Wide mouth, Macroglossia, Recurrent aphthous sto...	OMIM:616260
Diphallia	Bifid scrotum, Ureteral duplication, Rectoperineal fistula, Hypospadias, Distal urethral duplicat...	ORPHA:227
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Micrognathia	ORPHA:808
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neural tube defect, ...	ORPHA:268810
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, Nail ...	ORPHA:139471
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Pyloric stenosis, ...	ORPHA:2461
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Talipes equinovarus, Scolios...	OMIM:617988
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Tapered finger, Long fingers, Calcaneovalgus deformity, Nephrolithiasis, Brachycephaly, Abnormali...	ORPHA:521445
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:604292
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal...	ORPHA:353277
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Umbilical hernia, Narrow chest...	ORPHA:1517
Fanconi Anemia, Complementation Group F	Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis...	OMIM:603467
Pentalogy Of Cantrell	Omphalocele, Congenital diaphragmatic hernia	ORPHA:1335
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:168593
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Duplication of thumb phalanx, Joint stiffness, Micrognathia, Large fonta...	ORPHA:2995
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:129900
Benign Schwannoma	Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestib...	ORPHA:252164
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Short neck, Heparan sulfate excretion in urine, Kyphosis, Sp...	OMIM:309900
Alg12-Cdg	Sandal gap, Hypospadias, Ulnar deviation of the wrist, Proximal placement of thumb, Cryptorchidis...	ORPHA:79324
Aspergillosis	Abnormal long bone morphology, Sinusitis, Abnormal rib morphology, Hematological neoplasm	ORPHA:1163
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilat...	OMIM:619103
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Depression, Scol...	OMIM:128100
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism	OMIM:612370
Stt3B-Cdg	Cryptorchidism, Micropenis, Small scrotum	ORPHA:370924
Opitz Gbbb Syndrome	Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2745
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Cowden Syndrome 5	Pectus excavatum, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Ovarian cyst, Scoliosi...	OMIM:615108
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Gm1-Gangliosidosis, Type I	Frontal bossing, Short neck, Hypertelorism, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Be...	OMIM:230500
Diamond-Blackfan Anemia	Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx,...	ORPHA:124
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Synophrys, Deeply set eye, Joint contracture of the 5th finger, ...	ORPHA:363611
Pontocerebellar Hypoplasia, Type 17	Hypertelorism, Kyphosis, Low anterior hairline, Dysphagia, Limb hypertonia	OMIM:619909
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh...	OMIM:227650
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea	OMIM:618841
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard...	OMIM:301022
Ochoa Syndrome	Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Vesicoureteral r...	ORPHA:2704
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Mixed hearing impairment, Facial palsy, Optic disc coloboma, Severe ...	OMIM:620186
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79443
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Frontal bossing, Postaxial polydactyly, Highly arched eyebro...	OMIM:618460
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Linear hyperpigmentation, Congenital hip dislocation, Brittle ...	OMIM:305600
Chromosome 1P35 Deletion Syndrome	Hypertelorism, Cryptorchidism, Increased femoral anteversion, Hip dysplasia, Clinodactyly of the ...	OMIM:617930
Distal Deletion 15Q	Multicystic kidney dysplasia, Flat occiput, Hypospadias, Single transverse palmar crease, Congeni...	ORPHA:1596
Humeroradial Synostosis	Renal insufficiency, Humeroradial synostosis, Brachycephaly	OMIM:236400
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent...	ORPHA:974
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Frontal bo...	ORPHA:2308
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, External genital hypoplasia	ORPHA:363741
Hennekam-Beemer Syndrome	Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, High palate, Clinodactyly of th...	ORPHA:2135
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent antihelix, Branchial anomaly, Posteriorly rotated ears, Hearing impairment	ORPHA:466950
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Cryptorchidism, Stage 5 chronic kidney disease, Nephrot...	OMIM:617575
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho...	OMIM:615789
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Obsessive-compulsive trait, Attention deficit hyperactivity disorder	OMIM:619908
Peters Plus Syndrome	Ureteral duplication, Micromelia, Short neck, Brachycephaly, Clitoral hypoplasia, Clinodactyly of...	ORPHA:709
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Genu valgum, Macroglossia, Broad ribs, Abnormal metaphysis morph...	ORPHA:583
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom...	ORPHA:163979
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Talip...	OMIM:617821
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Renal corticomedullary cysts, Postaxial polydactyly	OMIM:219730
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon...	ORPHA:521426
Flynn-Aird Syndrome	Kyphosis, Alopecia, Scoliosis, Skeletal muscle atrophy	ORPHA:2047
Fanconi Anemia, Complementation Group P	Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Horseshoe kidney, Cafe-au-la...	OMIM:613951
Urofacial Syndrome 1	Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruction, Enuresis, Hydronephrosis	OMIM:236730
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertil...	ORPHA:478
8P11.2 Deletion Syndrome	Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Hypertelorism, Cryptorchidism,...	ORPHA:251066
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Hyperactivity, Short neck, Hypertelorism, Cryptorchidism, Deep pal...	OMIM:607721
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Arachnodactyly, Single transverse palmar crease, Biliary hyperplasia, Cryptorchi...	ORPHA:83617
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Micrognathia, Carious tee...	OMIM:223370
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Stt3A-Cdg	Cryptorchidism, Micropenis, Small scrotum	ORPHA:370921
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly, Hepatic cysts	OMIM:616307
Choanal Atresia	Tracheomalacia, Chronic sinusitis, Polydactyly, Craniosynostosis	ORPHA:137914
Flat Face-Microstomia-Ear Anomaly Syndrome	Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Sc...	ORPHA:1968
Cloacal Exstrophy	Omphalocele, Bladder exstrophy, Cloacal exstrophy	ORPHA:93929
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ...	ORPHA:158687
Faundes-Banka Syndrome	Sparse scalp hair, Frontal bossing, Premature thelarche, Hypertelorism, Hypoplastic toenails, Cry...	OMIM:619376
Sialidosis Type 1	Skeletal muscle atrophy, Frontal bossing, Urinary excretion of sialylated oligosaccharides, Kypho...	ORPHA:812
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Meckel Syndrome, Type 1	External genital hypoplasia, Short neck, Ambiguous genitalia, female, Hypotelorism, Ambiguous gen...	OMIM:249000
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Frontal bossing, Highly arched eyebrow, Short neck, Pectus excavatum, Cryptorchidism, Hypertelori...	OMIM:613563
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Short neck, Vesicoureteral reflux, Micropenis, Paroxysmal bursts of laughter, Hype...	OMIM:309580
Meier-Gorlin Syndrome 3	Small scrotum, Hypospadias, Sparse axillary hair, Aplasia/Hypoplasia of the patella, Sparse pubic...	OMIM:613803
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform...	ORPHA:363958
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Lymphoma, Anal atresia	ORPHA:1572
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Cryptorch...	ORPHA:2473
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Dental crowding, High, narrow palate, Narrow mouth, Wide mouth, Shor...	OMIM:300967
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Cryptorchidism, Micropenis	OMIM:202150
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Back pain, Single transverse palmar crease, Synophrys, Abnormal curvature of the v...	OMIM:619475
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Torticollis, Cryptorchidism, Melanocytic nevus, Pyelonephritis, Oligozoospermia, Nephritis	OMIM:314300
Coffin-Siris Syndrome	Sparse scalp hair, Thick eyebrow, Hypoplastic fifth toenail, Hypospadias, Hyperactivity, Aggressi...	ORPHA:1465
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb...	OMIM:619227
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Aspartylglucosaminuria	Aspartylglucosaminuria, Kyphosis, Brachycephaly, Macroglossia, Platyspondyly, Spondylolysis, Scol...	OMIM:208400
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Streak ovary, Hypospadias, Acrania, Kyphoscoliosis, Hypertelorism, Cryptorchidism, Ut...	OMIM:618820
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Sensorineural hearing impairment, Abnormal earlobe morphology, Intrauterine gr...	ORPHA:261330
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Curly hair, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thoracolum...	ORPHA:480880
Opitz Gbbb Syndrome	Frontal bossing, Hypospadias, Hypertelorism, Rectourethral fistula, Cryptorchidism, Widow's peak,...	OMIM:300000
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Ectopic...	OMIM:227645
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Clinodactyly, Renal hypoplasia, Hypote...	OMIM:616541
Floating-Harbor Syndrome	Short neck, Renal cyst, Nephrocalcinosis, Deeply set eye, Humeral pseudarthrosis, Compulsive beha...	ORPHA:2044
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur...	OMIM:613266
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Frontal bossing, Slow-growing hair, Highly arched eyebrow, Short neck, Pectus excavat...	OMIM:617506
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Smooth philtrum, Hyperextensibility at elbow, Arachnodactyly, Sagittal craniosynostosis, Absent t...	ORPHA:500150
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Adams-Oliver Syndrome 5	Syndactyly, Cavernous hemangioma, Brachydactyly	OMIM:616028
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Genu valgum, Hip dysplasia, Broad ribs, Left ventricular hypertr...	OMIM:619698
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Hypertelorism, Bilateral cryptorchidism...	OMIM:613457
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities	OMIM:618822
3Mc Syndrome 1	Omphalocele, Abnormality of the abdominal wall, Diastasis recti	OMIM:257920
Hatipoglu Immunodeficiency Syndrome	Hypospadias, Hyperpigmented/hypopigmented macules, Cryptorchidism, Hemivertebrae, Premature grayi...	OMIM:620331
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve...	OMIM:608800
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Ohdo Syndrome, Sbbys Variant	Hypospadias, Cryptorchidism, Prominent occiput, Long thumb, Long hallux	OMIM:603736
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Increased ur...	ORPHA:100924
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Skeletal muscle atrophy, Short femur, Hypospadias, Abnormal mitochondrial shape, A...	ORPHA:17
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79430
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Cryptorchidism, Plagiocephaly, Hydronephrosis, Brachydactyly	ORPHA:457193
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Alopecia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidism...	OMIM:613990
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, ...	OMIM:229850
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Oligozo...	ORPHA:85450
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Brushfield spots, Atlantoaxi...	OMIM:190685
Kabuki Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Highly arched eyebrow, Congenital ...	ORPHA:2322
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion in urine, Contracture o...	OMIM:607015
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa...	OMIM:619472
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Depression, Macronodular adrenal hyperpla...	OMIM:219080
Acrocephalopolydactylous Dysplasia	Omphalocele	OMIM:200995
C Syndrome	Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Multicystic kidney dys...	ORPHA:1308
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single transverse palmar c...	ORPHA:3191
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Tapered finger, Pectus excavatum, Cryptorchidism, Long fingers, Short...	OMIM:616734
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Carious teeth, Fle...	ORPHA:2908
Meckel Syndrome	Encephalocele, Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Micrognathia, Preaxial...	ORPHA:564
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Joint subluxation, Small...	ORPHA:90349
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Pectus excavatum, Brachycephaly, Azoospermia, Scoliosis, Abnormal temper tantrums,...	ORPHA:2072
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Diastasis recti	OMIM:618419
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophili...	OMIM:610168
Hypotonia, Ataxia, And Delayed Development Syndrome	Tapered finger, Hypertelorism, Cryptorchidism, Synophrys, Dolichocephaly, Deeply set eye, Horizon...	OMIM:617330
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Rett Syndrome, Congenital Variant	Kyphosis, Tongue thrusting, Irritability, Talipes equinovarus, Scoliosis, Bruxism, Abnormal repet...	OMIM:613454
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Abnormal thumb morphology, Cryptorch...	ORPHA:2719
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism	OMIM:601794
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Sparse hair, Hypopigmentation of the skin, Short phalanx of finger, Genu var...	ORPHA:221016
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Depression, Ovarian cyst, Agitation, Emotional lability	OMIM:610475
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Scoliosis	OMIM:619761
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Noonan Syndrome 1	Male infertility, Pectus excavatum of inferior sternum, Hypospadias, Kyphoscoliosis, Short neck, ...	OMIM:163950
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, A...	ORPHA:93473
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o...	OMIM:619321
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Hypoplastic toenails, ...	OMIM:619522
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Proteinuria, Decreased response to growth hormone stimulation test, Bowing...	ORPHA:1855
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, High palate, Cubitus valgus	OMIM:104350
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Proteinuria, Hypertelorism, Precocious puberty, Cryptorchidism, Sparse hair, Sco...	OMIM:616682
Immunodeficiency 49	Wormian bones, Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Horizontal ribs, Micrognathia	OMIM:614857
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Spina...	OMIM:256520
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Large for gestational age	OMIM:614520
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex c...	OMIM:617143
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Hypertelorism, Cryptorchidism, Split hand, Clubbing, Shawl scrotum, Micropenis	OMIM:600460
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Generalized bronze hyperpigmentation...	ORPHA:168558
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Deep philtrum, High palate,...	OMIM:300855
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Malabsorption, M...	ORPHA:565
Alexander Disease	Frontal bossing, Facial palsy, Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Depressio...	ORPHA:58
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Umbilical hernia	ORPHA:2166
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Congenit...	ORPHA:991
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndacty...	OMIM:107480
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Precocious puberty, Brachycephaly, Rectovaginal fistula, Thick eyebrow	OMIM:608980
15Q14 Microdeletion Syndrome	Kyphosis, Deeply set eye, Biparietal narrowing, Scoliosis	ORPHA:261190
Aicardi Syndrome	Prominence of the premaxilla, Missing ribs, Small hand, Rib fusion, Multiple lipomas, Hip dysplas...	ORPHA:50
Cystinosis, Nephropathic	Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fa...	OMIM:219800
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Aganglionic megacolon, Cleft palate	ORPHA:66629
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Generalized bronze hyperpigmentation...	ORPHA:289548
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Kyphosis, Secondary amenorrhea, Depression, Agitation, Emotiona...	OMIM:610489
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl...	OMIM:618971
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Frontal bossing, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosis, Hypertelorism, Large ha...	OMIM:617011
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dolichocephaly, Kyphosis, Knee flexion contracture, Rectovaginal fistula, Bilateral talipes equin...	OMIM:619708
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Lo...	OMIM:618476
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus...	OMIM:304150
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Intrauterine growth retardation	ORPHA:436252
Branchiooculofacial Syndrome	Posteriorly rotated ears, Facial palsy, Short neck, Sensorineural hearing impairment, Low posteri...	OMIM:113620
Restrictive Dermopathy	Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Narr...	ORPHA:1662
Alg1-Cdg	Kyphosis, Renal insufficiency, Nephrotic syndrome, Scoliosis	ORPHA:79327
Peters-Plus Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Hypoplasia of the max...	OMIM:261540
Rett Syndrome	Skeletal muscle atrophy, Kyphosis, Short foot, Scoliosis, Bruxism, Stereotypical hand wringing	OMIM:312750
Congenital Sialidosis Type 2	Umbilical hernia, Hydrocephalus, Polydactyly	ORPHA:93400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi...	ORPHA:93271
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Malar flattening, Tapered finger, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, Umbilical...	OMIM:301066
Aniridia-Absent Patella Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the patella	ORPHA:1069
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt...	ORPHA:536467
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Ectopic...	OMIM:600901
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di...	OMIM:613406
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, 2-3 t...	ORPHA:3455
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty...	OMIM:270400
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Hydrocephalus	ORPHA:2169
8Q24.3 Microdeletion Syndrome	Branchial cyst, Posteriorly rotated ears, Optic nerve hypoplasia, Asymmetry of the ears, Short ne...	ORPHA:508488
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ...	OMIM:236700
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Neoplasm of the tongue, Joint...	ORPHA:3047
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hemivertebrae, Abnormal vertebral morphology	ORPHA:77298
Dermatomyositis	Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Inflammatory myopathy, Neoplasm, Lung ...	ORPHA:221
Tetrasomy 9P	Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short...	ORPHA:3310
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicoureteral reflux, Abnormal...	ORPHA:353281
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Met...	OMIM:272950
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Pectus excavatum, Kyphosis, Elevated urinary epinephrine level, Myopathy, Pheochro...	OMIM:162300
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Aggressive behavior, Wrist swell...	OMIM:309000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Smooth philtrum, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Hi...	OMIM:620005
Velocardiofacial Syndrome	Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ...	OMIM:192430
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology	ORPHA:79404
Cockayne Syndrome B	Dry hair, Renal insufficiency, Proteinuria, Abnormal hair morphology, Cryptorchidism, Kyphosis, I...	OMIM:133540
Mucolipidosis Type Ii	Hip contracture, Dry hair, Diastasis recti, Craniosynostosis, Limited wrist movement, Kyphosis, W...	ORPHA:576
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Cryptorc...	OMIM:613884
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Posteriorly rotated ears, Spina bifida, Patent ductus arteriosus, Cupped ear, Unilat...	OMIM:619480
Ablepharon Macrostomia Syndrome	Omphalocele, Umbilical hernia, Camptodactyly of finger	ORPHA:920
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Frontal bossing, Anterior pituitary hypoplasia, Kyphoscoliosis, Supernumerary nipp...	ORPHA:466791
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Kyphosis, Pigmentary retinopathy, Scoliosis, Camptodacty...	ORPHA:88628
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Tracheomalacia, Micrognathia, Small hand, Obesity, Fibular hypoplasia, ...	ORPHA:444077
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Hypertelorism, Extension of hair growth on temples to lateral...	ORPHA:2729
Persistent Müllerian Duct Syndrome	Cryptorchidism, Male pseudohermaphroditism	ORPHA:2856
Familial Glucocorticoid Deficiency	Generalized hyperpigmentation, Anorexia, Renal salt wasting, Precocious puberty, Cryptorchidism, ...	ORPHA:361
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2834
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Hypertelorism, Sparse eye...	ORPHA:457359
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Scoliosis, Arachnodactyly, Kyphosis	OMIM:609008
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Cryptorchidism, Hypoplastic labia...	OMIM:209885
Trichorhinophalangeal Syndrome, Type Ii	Single transverse palmar crease, Bilateral cryptorchidism, Deeply set eye, Fragile nails, Vesicou...	OMIM:150230
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs...	ORPHA:2273
Sotos Syndrome	Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morphology, ...	ORPHA:821
Oeis Complex	Absence of the sacrum, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptor...	OMIM:258040
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Proteinuria, Hypertelorism, Cryptorchidism, Chordee, Hypoplas...	OMIM:300519
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Hypoplasia of the maxilla, Abnormal ossification involving the fe...	ORPHA:79345
Albinism-Deafness Syndrome	Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism	OMIM:300700
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Increased urine deoxypyridinoline l...	OMIM:239000
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abdominal wall defect...	ORPHA:322
X Small Rings	Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,...	ORPHA:96201
Fraser Syndrome 3	Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth	OMIM:617667
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate, Micrognathia	ORPHA:2282
Congenital Ptosis	Premature ovarian insufficiency, Congenital facial diplegia, Piebaldism, Increased muscle lipid c...	ORPHA:91411
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn...	OMIM:616268
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Craniofacioskeletal Syndrome	Barrel-shaped chest, Absent gallbladder, Hypospadias, Cryptorchidism, Small hand, Short foot, Sho...	OMIM:300712
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Vacterl With Hydrocephalus	Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Anotia, Intrauterine gr...	ORPHA:3412
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sacral dimple, Toe syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, Doli...	ORPHA:459070
Esophageal Atresia	Omphalocele	ORPHA:1199
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Hypertelorism, Aggressive behavior, Long fingers, Plagiocephaly, Talipes equinovarus, S...	OMIM:613355
Genitopatellar Syndrome	Small scrotum, Congenital hip dislocation, Knee flexion contracture, Micropenis, Short phalanx of...	OMIM:606170
Spondylocostal Dysostosis 1, Autosomal Recessive	Rib fusion	OMIM:277300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Schwannoma, Ossifying fibroma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcuta...	ORPHA:363700
Gabriele-De Vries Syndrome	Hallux valgus, Distal lower limb amyotrophy, Sydney crease, Sandal gap, Decreased response to gro...	ORPHA:506358
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Genu recurvatum, Tapered finger, Short...	OMIM:619539
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Anal stenosis, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutan...	OMIM:620029
Cardiac Diverticulum	Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti	ORPHA:1686
Pineoblastoma	Retinoblastoma, Pinealoma	ORPHA:251909
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Diastasis recti, Hypertelorism, Brachycephaly, Deeply set eye, Bicornua...	OMIM:265380
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna...	OMIM:601803
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis	OMIM:609541
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria	ORPHA:2239
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Clinodactyly, Large placenta, Anteriorl...	ORPHA:1708
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Deeah Syndrome	Cervical hemivertebrae, Decreased response to growth hormone stimulation test, Anterior pituitary...	OMIM:619004
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture, Thin ribs	OMIM:615368
Meier-Gorlin Syndrome 4	Cryptorchidism, Patellar aplasia, Slender long bone, Breast hypoplasia	OMIM:613804
Osteogenesis Imperfecta, Type Xv	Thin ribs	OMIM:615220
Meier-Gorlin Syndrome 6	Frontal bossing, Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchidis...	OMIM:616835
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Hypoplasia of penis, Primary amenorrhea, Ectopic posterior pituitary	ORPHA:95496
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Thin ribs	OMIM:614833
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc...	ORPHA:2470
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Scoliosis, Finger joint hyperm...	OMIM:618493
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Dysphagia	OMIM:211530
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Toe syndactyly, Multicystic k...	ORPHA:2052
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:90674
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of hair pigmentation, Hip dysplasia, Abnormal epiphysi...	ORPHA:90354
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Malar flattening, Bifid uvula, Hypoplasia of the frontal bone	OMIM:229400
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Hypospadias, Short neck, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minora,...	ORPHA:495875
Noonan Syndrome 3	Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Pectus excavatum, Cryptorchidism, Scap...	OMIM:609942
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Talipes equinovarus, Cleft soft palate	OMIM:614557
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Thickened ribs	OMIM:252900
Waardenburg Syndrome, Type 1	Congenital sensorineural hearing impairment, Myelomeningocele, Spina bifida	OMIM:193500
Neurocardiofaciodigital Syndrome	Syndactyly, Thin vermilion border, High palate, Polydactyly, Retrognathia	OMIM:619869
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Diastasis recti, Cryptorchidism, Pancreatic hyperplasia, Nephro...	OMIM:130650
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Lathosterolosis	Intrauterine growth retardation, Meningocele, Hearing impairment	ORPHA:46059
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Abnormal repetitive mannerisms, Scoliosis	ORPHA:261144
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Charge Syndrome	Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Compulsive behaviors, Vesicoureteral ref...	ORPHA:138
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Postencephalitic Parkinsonism	Camptocormia, Kyphosis, Depression, Dysphagia, Abnormal aggressive, impulsive or violent behavior	ORPHA:97349
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum...	ORPHA:857
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele	ORPHA:3186
Omodysplasia 1	Short humerus, Frontal bossing, Rhizomelia, Increased fibular diameter, Short neck, Cryptorchidis...	OMIM:258315
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ...	ORPHA:2369
Osteopetrosis With Renal Tubular Acidosis	Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, Brachycephaly, Plagiocephaly,...	ORPHA:2785
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Thin ribs, Disproportionate tall...	OMIM:225400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Overweight, Delayed proximal femoral epiphyseal ossification, Macrogl...	ORPHA:226307
Microphthalmia, Syndromic 3	Vertebral fusion, Frontal bossing, Hypogonadotropic hypogonadism, Hypospadias, Anterior pituitary...	OMIM:206900
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Hydrocephalus, Abnormal rib morphology, Narr...	ORPHA:667
Nail-Patella Syndrome	Sensorineural hearing impairment, Spina bifida	OMIM:161200
Holoprosencephaly 7	Omphalocele	OMIM:610828
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Proteinuria, Kyphosis, Flexion c...	OMIM:212065
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Hypotelorism, Sp...	OMIM:300661
Classic Homocystinuria	Sparse scalp hair, Abnormality of retinal pigmentation, Arachnodactyly, Anorexia, Pectus excavatu...	ORPHA:394
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ...	OMIM:300942
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Retinoblastom...	ORPHA:1587
Double Outlet Right Ventricle	Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth	ORPHA:3426
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Macroglossia, Malar flattening, Delayed cranial suture closure	OMIM:613038
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Camptodactyly	OMIM:200110
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Hypertelorism, Absent eyelashes, Cr...	OMIM:219000
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Osteoporosis, Bilate...	OMIM:301068
22Q11.2 Deletion Syndrome	Aganglionic megacolon, Truncus arteriosus, Spina bifida, Short neck, Hydrocephalus, Meningocele, ...	ORPHA:567
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Craniofacial hyperostosis, Avascular necrosis of the capital femora...	ORPHA:581
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Menke-Hennekam Syndrome 1	Overlapping toe, Broad hallux, Sandal gap, Cryptorchidism, Flexion contracture, Cutaneous syndact...	OMIM:618332
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Cryptorchidism, 2-3 toe syndactyly, Coronal cleft vertebrae, Aplasia of the le...	OMIM:620025
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Sensorineural hearing impairment, Patent ductus arteriosu...	OMIM:164210
Glycerol Kinase Deficiency	Frontal bossing, Increased urinary glycerol, Hypertelorism, Cryptorchidism, Myopathy, Muscular dy...	OMIM:307030
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness	ORPHA:88644
Knobloch Syndrome 1	Occipital encephalocele, Optic disc pallor, Patent ductus arteriosus, Peripapillary atrophy, Occi...	OMIM:267750
Carney Complex	Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, ...	ORPHA:1359
Arima Syndrome	Occipital meningocele, Optic atrophy, Chorioretinal coloboma	OMIM:243910
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Malabsor...	ORPHA:2136
Williams Syndrome	Hypoplasia of penis, Hypoplastic toenails, Abnormal form of the vertebral bodies, Nephrocalcinosi...	ORPHA:904
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill...	OMIM:301043
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Achilles tendon contracture, Elbow flex...	OMIM:252940
Charge Syndrome	External genital hypoplasia, Abnormal palmar dermatoglyphics, Decreased response to growth hormon...	OMIM:214800
Atelis Syndrome 2	Frontal bossing, Sacral dimple, Single transverse palmar crease, Kyphosis, Attention deficit hype...	OMIM:620185
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Malabsorption, Elbow dislocation, Abnormality of the dentition, Osteoarthritis...	ORPHA:285
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Capillary hemangioma, Short low...	ORPHA:1556
Mucopolysaccharidosis, Type Iiib	Thickened ribs	OMIM:252920
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Unilateral deafness, Meningocele	ORPHA:1010
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, T...	OMIM:203500
Meacham Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Hydrometrocolpos, Horseshoe...	ORPHA:3097
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Ankle clonus, Talipes valgus, Submucous cleft hard palate, Flexion contracture	OMIM:618891
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Paronychia, Oligozoospermia,...	ORPHA:125
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Crossed fused renal ectopia, Congenital hip dislocation, Prem...	OMIM:147920
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Phimosis, Reticulated skin pigm...	OMIM:305000
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Hypospadias, Sparse scalp hair, Unilatera...	OMIM:308205
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Hydrocephalus, Femur fracture	OMIM:612301
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Cryptorchidism, Labial hypertrophy, Prominent occiput, Macroglossia, Shallow ...	ORPHA:96191
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla...	ORPHA:2556
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Hypospadias, Abnormal palmar dermatoglyphics, Down-sloping shou...	OMIM:309800
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Cryptorchidism, Ureterocele, Shawl scrotum, Pa...	ORPHA:261265
Semilobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Neural tube defect, Abnormality of the autonomic...	ORPHA:93924
Diets-Jongmans Syndrome	Hypospadias, Congenital diaphragmatic hernia, Aggressive behavior, Cryptorchidism, Hip dysplasia,...	OMIM:618846
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly...	OMIM:259770
Mucopolysaccharidosis, Type Iiic	Thickened ribs	OMIM:252930
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad ischia, Diaphyseal dysplasia, Short palm, Broad ribs, 3-4 finger syn...	OMIM:619727
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Talipes equinovarus, Small bowel dive...	ORPHA:90348
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Flaring of rib cage	OMIM:612852
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Bi...	OMIM:181270
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Alagille Syndrome 1	Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnormal rib morphology, Papillary ...	OMIM:118450
Marfan Syndrome	Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Dolichoceph...	ORPHA:558
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Cog1-Cdg	Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Posterior rib gap, Flat acetabular roof, Short ...	ORPHA:263508
Gaucher Disease Type 1	Proteinuria, Anorexia, Kyphosis, Hematuria, Vertebral compression fracture	ORPHA:77259
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Ganglioneuroma, Obesity, Ganglioneuroblastoma, Brachydactyly	ORPHA:293987
Pontine Tegmental Cap Dysplasia	Rib fusion, Facial palsy	OMIM:614688
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Rib fusion, Short ribs, Missing ribs, Thin ribs	OMIM:271520
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, 2-3 to...	OMIM:618280
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Ciliary Dyskinesia, Primary, 1	Male infertility, Absent outer dynein arms	OMIM:244400
Triosephosphate Isomerase Deficiency	Kyphosis, Cholelithiasis, Myopathy, Skeletal muscle atrophy	OMIM:615512
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Temporomandibular joint ankylosis, ...	ORPHA:217085
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphal...	ORPHA:284339
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Camptodactyly of finger, Flexion contracture, Temporomandibular joint ankylosis, ...	ORPHA:217093
Ramon Syndrome	Enlarged labia minora, Kyphosis, Pigmentary retinopathy, Scoliosis, Hypertrichosis	OMIM:266270
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ...	ORPHA:64
Norrie Disease	Cryptorchidism, Hypotelorism, Deeply set eye, Irritability, Self-injurious behavior, Uterine rupt...	ORPHA:649
Coccidioidomycosis	Hydrocephalus, Abnormal long bone morphology, Abnormal metacarpal morphology, Broad ribs, Broad m...	ORPHA:228123
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Bilateral renal hypoplasia, Unilateral renal...	ORPHA:49
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ...	OMIM:157170
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Frontal bossing, Anterior pituitary hypoplasia, Post...	OMIM:619534
Ehlers-Danlos Syndrome, Vascular Type	Pectus excavatum, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Osteoly...	OMIM:130050
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphysis, Short foot...	OMIM:157800
Johanson-Blizzard Syndrome	Sparse scalp hair, Hypospadias, Single transverse palmar crease, Urethrovaginal fistula, Septate ...	OMIM:243800
Fraser Syndrome 2	Rectal atresia, Intestinal malrotation, Anal atresia, Cutaneous syndactyly	OMIM:617666
Vascular Ehlers-Danlos Syndrome	Alopecia, Congenital hip dislocation, Hypospadias, Abnormality of hair texture, Pectus excavatum,...	ORPHA:286
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, Lower limb hypertonia, Foot dors...	ORPHA:171629
Lymphedema-Distichiasis Syndrome	Yellow nails, Kyphosis, Distichiasis	OMIM:153400
Microform Holoprosencephaly	Tented upper lip vermilion, Orofacial cleft, Cleft palate, Short philtrum, Solitary median maxill...	ORPHA:280200
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Cystic Fibrosis	Male infertility, Clubbing of fingers, Hypercalciuria	OMIM:219700
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Urinary incontinence, Scoliosis, Dysphagia	OMIM:619482

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 Ptch1

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 Ptch1.

No publications found that use IMPC mice or data for Ptch1.

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
Ptch1^{tm80857(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ptch1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ptch1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ptch1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us