Gene Summary

Name:
patched 1
Synonyms:
wig,  Ptc,  Patched 1,  A230106A15Rik,  Ptc1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ptch1tm1Mps HOM   Early adult 0.00

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Viewing: all phenotypes
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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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia 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
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar 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
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Nondisjunction
Decreased fertility OMIM:158250
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Spermatogenic Failure 17
Male infertility OMIM:617214
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Glioma Susceptibility 3
Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom... OMIM:613029
Adrenocortical Carcinoma, Hereditary
Choroid plexus carcinoma, Adrenocortical carcinoma OMIM:202300
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Dentinogenesis Imperfecta 1
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta OMIM:125490
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Dentin Dysplasia
Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
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
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Tumor Predisposition Syndrome 4
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma OMIM:609265
Medulloblastoma
Medulloblastoma OMIM:155255
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Familial Multinodular Goiter
Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... ORPHA:276399
Tooth Agenesis, Selective, 9
Selective tooth agenesis, Microdontia, Taurodontia OMIM:617275
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Taurodontism
Taurodontia OMIM:272700
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Basal Cell Nevus Syndrome 2
Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas OMIM:620343
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
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
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
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters OMIM:226650
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Scarring alopecia of scalp OMIM:619787
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... ORPHA:247806
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Generalized hirsutism, Neoplasm, Cutaneous melanoma ORPHA:626
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Familial Adenomatous Polyposis 1
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... OMIM:175100
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Abnormal sternum morphology, Hamartomatous stomach polyps, Short ribs, Ovari... OMIM:109400
Gardner Syndrome
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... ORPHA:79665
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters ORPHA:79405
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Rhabdomyosarcoma, Embryonal, 2
Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Ovarian thecoma, Nephroblastoma OMIM:180295
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Pectus carinatum, Pectus excavatum, Partial duplicatio... OMIM:605967
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Breast carcinoma, Colorectal polyposis OMIM:135290
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
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
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Mult... OMIM:150800
Monosomy 9Q22.3
Polydactyly, Large for gestational age, Rhabdomyosarcoma, Basal cell carcinoma, Tall stature, Pal... ORPHA:77301
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
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
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hamartoma, Hypertrichosis OMIM:620470
Bardet-Biedl Syndrome 5
Polydactyly, Obesity, Syndactyly, Brachydactyly OMIM:615983
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Trichodiscom... OMIM:135150
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Gorlin Syndrome
Basal cell carcinoma, Bifid ribs, Palmar pits, Odontogenic keratocysts of the jaw, Hydrocephalus,... ORPHA:377
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Familial Adenomatous Polyposis
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... ORPHA:733
Turcot Syndrome With Polyposis
Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ... ORPHA:99818
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Failure Of Tooth Eruption, Primary
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth OMIM:125350
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Neurofibromatosis, Type I
Aqueductal stenosis, Rhabdomyosarcoma, Genu valgum, Spinal neurofibroma, Hydrocephalus, Pheochrom... OMIM:162200
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Omphalocele
Omphalocele ORPHA:660
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Colorectal Cancer
Neoplasm of the stomach, Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Sandal gap, Pectus excavatum, Low posterior hairline, Craniosyno... ORPHA:1520
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening ORPHA:139474
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly, Abnorma... ORPHA:294975
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas... ORPHA:79140
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Subependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251639
Ependymoma
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... ORPHA:251636
Osteomesopyknosis
Infertility OMIM:166450
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Wide anterior fontanel, High palate, L... ORPHA:3098
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Medulloblastoma
Spinal cord tumor, Cerebellar cyst, Cerebellar medulloblastoma, Cerebellar calcifications, Neopla... ORPHA:616
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly, Hama... ORPHA:64754
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Highly arched eyebrow, Frontal bossing, Arachnodactyly, Rudimentary postaxial poly... OMIM:600325
Caudal Appendage-Deafness Syndrome
Caudal appendage, Cryptorchidism, Abnormal digit morphology ORPHA:1123
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Microdontia, Enamel hypominer... ORPHA:3352
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp ORPHA:79402
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Obesity, Clinodactyly OMIM:615984
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... ORPHA:447877
Blue Rubber Bleb Nevus
Rectal prolapse, Cerebellar medulloblastoma, Hemangioma, Volvulus, Intestinal bleeding, Intussusc... OMIM:112200
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Carious teeth, Atrophic scars OMIM:226700
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad... ORPHA:3268
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border ORPHA:363523
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Proximal placement of thumb, Kyphosis, Decreased testicular size, D... OMIM:615433
Exostoses, Multiple, Type Ii
Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular ex... OMIM:133701
Exostoses, Multiple, Type I
Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular ex... OMIM:133700
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter... OMIM:113000
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multiple enchondr... OMIM:620189
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Abnormality of the hand, Hypotelorism, Scoliosis, Hyperlordosis, Low posterior hai... ORPHA:1387
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroblastoma, Ganglioneuroma OMIM:613013
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hypoplastic female external genitalia, Scoliosis, Proptosis, Long e... OMIM:618577
Cornelia De Lange Syndrome 5
Brachycephaly, Limited elbow extension, Clinodactyly of the 5th finger, Proximal placement of thu... OMIM:300882
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Non-Distal Duplication 10Q
Brachycephaly, Scoliosis, Pectus excavatum, Frontal bossing, Cryptorchidism, Hypertelorism ORPHA:1695
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten... ORPHA:2972
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Familial Multiple Lipomatosis
Medulloblastoma, Overgrowth, Bowing of the long bones, Odontogenic keratocysts of the jaw ORPHA:199276
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Polycystic kidney dysplasia, Single transverse... OMIM:617866
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car... OMIM:618363
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture OMIM:203550
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Retinoblastoma
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Clef... ORPHA:790
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Turricephaly, External genital hypoplasia, Genu valgum, Finger synda... ORPHA:65759
Steatocystoma Multiplex
Natal tooth OMIM:184500
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Metacarpal synostosis, Proptosis, Brachydactyly, Hypertelorism ORPHA:35099
Phakomatosis Pigmentokeratotica
Basal cell carcinoma, Rhabdomyosarcoma, Pheochromocytoma, Renal transitional cell carcinoma, Patc... ORPHA:2874
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... ORPHA:2756
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly, Gonadal dysgenesis, Clinodactyly of the 5th finger, Unilateral renal agenesis, Hyp... ORPHA:3306
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Epidermal Nevus Syndrome
Spinal cord tumor, Weakness of long finger extensor muscles, Rhabdomyosarcoma, Lipoma ORPHA:35125
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
7P22.1 Microduplication Syndrome
Cryptorchidism, Hypertelorism ORPHA:314034
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Sacral dimple, Broad distal phalanx of finger, Hypospadias, Sandal gap, Scoliosis,... OMIM:615761
Trichodental Dysplasia
Hypodontia, Odontodysplasia, Conical tooth OMIM:601453
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Pierpont Syndrome
Brachycephaly, Short finger, High anterior hairline, Deep palmar crease, Scoliosis, Prominent fin... OMIM:602342
Pierpont Syndrome
Brachycephaly, Short finger, High anterior hairline, Deep palmar crease, Scoliosis, Prominent fin... ORPHA:487825
Acrodysostosis
Abnormal female external genitalia morphology, Abnormal femur morphology, Abnormal form of the ve... ORPHA:950
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Enamel ... OMIM:234250
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Hypoplasia of the prostate, Widely spaced toes, Shortening of all... OMIM:301900
Pilomatrixoma
Pilomatrixoma OMIM:132600
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Biemond Syndrome Type 2
Hydrocephalus, Obesity, Preaxial polydactyly ORPHA:141333
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... ORPHA:251393
X-Linked Intellectual Disability, Siderius Type
Scoliosis, Low posterior hairline, Synophrys, Decreased testicular size, Large hands, Preaxial ha... ORPHA:85287
Muenke Syndrome
Brachycephaly, Plagiocephaly, Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epi... OMIM:602849
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Obtuse angle of mandi... ORPHA:85184
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Genu valgum, Fixed elbow flexion, Small epiphyses, Delayed... ORPHA:166016
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Polycyst... OMIM:613091
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Skin-picking, Dolichocephaly, Self-injurious behavior, Deeply set eye, Cryptorchidism, ... OMIM:618512
Hao-Fountain Syndrome
Clinodactyly of the 5th finger, Trigonocephaly, Hallux valgus, Cryptorchidism, Micropenis, Aggres... OMIM:616863
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Scoliosis, Hirsutism, Kyphosis, Hypertelorism, Bruxism, Hip dislocation, Short foo... OMIM:300434
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... ORPHA:1946
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Acute myeloid leukemia, Medulloblastoma, Neuroblastoma, Absent thumb, S... OMIM:610832
Acquired Ichthyosis
Sarcoma, Neoplasm, Lymphoma, Multiple myeloma ORPHA:454
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Dental crowdi... OMIM:269300
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Sparse body hair, Hypogonadism, Cryptorchidism, Micropenis, Tapered finger ORPHA:85274
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Tapered finger, Thick eyebrow, Cryptorchidism, Short foot OMIM:309585
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick hair, Small nail, Absent... OMIM:618658
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
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
1Q21.1 Microduplication Syndrome
Hypospadias, Arthrogryposis multiplex congenita, Frontal bossing, Hip dysplasia, Attention defici... ORPHA:250994
2Q23.1 Microdeletion Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Highly arched eye... ORPHA:228402
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Pectus excavatum, Camptodactyly of ... ORPHA:376
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Bardet-Biedl Syndrome 4
Polydactyly, Obesity, Syndactyly, Brachydactyly OMIM:615982
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Basal Cell Carcinoma, Susceptibility To, 1
Basal cell carcinoma OMIM:605462
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... OMIM:616300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, High palate, Bilateral talipes equinovarus, Postaxial polydac... OMIM:618142
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp OMIM:226670
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia OMIM:190320
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Long philtrum, Abnormal bone ossification, Abnormal femoral neck/... ORPHA:163649
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Brachycephaly, Abnormal thumb morphology, Abnormality... ORPHA:2511
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Maffucci Syndrome
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... ORPHA:163634
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Sparse body hair, Hypogonadism, Deeply set eye, Cryptorchidism, Short ... ORPHA:261483
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Broad ... ORPHA:380
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Short thumb OMIM:274205
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd finger, Broad thumb, Coxa valga, Labial hypoplasia, Scoliosis, Hirsutism,... OMIM:620073
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Intestinal polyposis, Clinodactyly of the 5th finger, Stoma... ORPHA:1052
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Potocki-Shaffer Syndrome
Brachycephaly, Turricephaly, Parietal foramina, Single transverse palmar crease, Sparse lateral e... OMIM:601224
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Clinodactyly of the 5th finger, Highly arched eyebrow, Hyperactivity, Scoliosis, P... OMIM:615834
Greig Cephalopolysyndactyly Syndrome
Nail dysplasia, Trigonocephaly, Broad thumb, Syndactyly, Craniosynostosis, Hypospadias, Abnormal ... OMIM:175700
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Neurofibromatosis Type 1
Rhabdomyosarcoma, Tall stature, Spinal neurofibroma, Abnormal hip bone morphology, Pheochromocyto... ORPHA:636
Ritscher-Schinzel Syndrome 4
Brachycephaly, Plagiocephaly, Hypotelorism, Scoliosis, Proptosis, Impulsivity, Curly hair, Narrow... OMIM:619435
Bardet-Biedl Syndrome 22
Polydactyly, Large for gestational age, Obesity, Postaxial foot polydactyly OMIM:617119
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever... ORPHA:1193
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca... ORPHA:79501
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ... ORPHA:90652
48,Xyyy Syndrome
Thick lower lip vermilion, High palate, Enamel hypoplasia, Irregularly spaced teeth, Long philtrum ORPHA:99329
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Jeune Syndrome
Abnormal clavicle morphology, Abnormal metaphysis morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Depression, Scoliosis, Pectus excavatum, Kyphosis, Frontal bossing, Large hands, Hypertelorism, T... ORPHA:276630
Acropectorovertebral Dysplasia
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... OMIM:102510
15Q11Q13 Microduplication Syndrome
Finger syndactyly, Clinodactyly of the 5th finger ORPHA:238446
19P13.12 Microdeletion Syndrome
Sandal gap, Hyperactivity, Proptosis, Kyphosis, Craniosynostosis, Deep palmar crease, Hypospadias... ORPHA:254346
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Abnormality of the hand, Agitation, Aggressive behavior, Hyperactiv... ORPHA:369891
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Renal cyst, Short sternum, Micrognathia, Embryonal rhabdomyosarcoma, Malar flatten... OMIM:257300
Attenuated Familial Adenomatous Polyposis
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... ORPHA:220460
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Sandal gap, 2-3 toe syndactyly, Lymphoma, Glioma, Medulloblastoma, Sinusitis, M... OMIM:251260
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Short thorax, Undulate ribs,... ORPHA:1801
Trisomy 4P
Radial club hand, Hypospadias, Scoliosis, Camptodactyly of finger, Thick eyebrow, Abnormal hair p... ORPHA:1738
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Scoliosis, Hyperlordosis, Elbow flexion contracture, Spinal mu... OMIM:600175
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Acrofrontofacionasal Dysostosis 2
Brachycephaly, Sacral dimple, Hypospadias, Bifid scrotum, Proptosis, Broad thumb, Hand polydactyl... OMIM:239710
Laurence-Moon Syndrome
Brachycephaly, Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly... ORPHA:2377
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Single transverse palmar crease, Scoliosis, Kyphosis, Arthrogryposis multiplex... ORPHA:178148
Intellectual Disability, Wolff Type
Clinodactyly of the 5th finger, Hypospadias, Abnormality of the nail, Scoliosis, Low posterior ha... ORPHA:3080
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Arthrogryposis, Distal, Type 4
Tibial deviation of toes, Torticollis, Camptodactyly of 2nd-5th fingers, Single transverse palmar... OMIM:609128
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Decreased testicular size, Arachnodactyly, Broad t... ORPHA:251019
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Cutaneous leiomyoma, Barrett esophagus, Papillary renal cell carcinoma type ... ORPHA:523
Epidermodysplasia Verruciformis, Susceptibility To, 3
Verrucae, Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Paraneoplastic Pemphigus
B-cell lymphoma, Sarcoma, Thymoma ORPHA:63455
48,Xxxy Syndrome
Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scrotum, Coxa valga, Hip ... ORPHA:96263
Pallister-Hall Syndrome
Hypothalamic hamartoma, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomeli... OMIM:146510
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Bilateral facial palsy, Scoliosis, Arthrogryposis multiplex congenita, Bilateral talipes equinova... ORPHA:319332
Infantile Myofibromatosis
Fibroma, Intestinal obstruction, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the... ORPHA:2591
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Adducted thumb, Clinodactyly of the 5th finger, Shoulder flexion contracture,... OMIM:619110
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Flexion contracture, Short neck OMIM:168400
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Schaaf-Yang Syndrome
Rocker bottom foot, Polyphagia, Scoliosis, Tapered finger, Short foot, Kyphosis, Camptodactyly, A... OMIM:615547
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
49,Xxxxy Syndrome
Hypoplasia of penis, Hypogonadism, Abnormal epiphysis morphology, Small scrotum, Coxa valga, Hip ... ORPHA:96264
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Bilateral single transverse palmar creases, Abnormal fibula morphology, Sacral dim... ORPHA:2633
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Proptosis, Dolichocephaly, Brachydactyly, Cryptorchidism ORPHA:3303
Meige Disease
Angiosarcoma ORPHA:90186
Bardet-Biedl Syndrome 8
Brachycephaly, Postaxial polydactyly, Hypospadias, Hypogonadism OMIM:615985
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Ollier Disease
Hemangioma, Chondrosarcoma, Sarcoma, Neoplasm, Multiple enchondromatosis, Visceral angiomatosis ORPHA:296
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypotelorism, Abnormal hair morpho... ORPHA:3082
Pseudodiastrophic Dysplasia
Brachycephaly, Rhizomelia, Talipes equinovarus, Scoliosis, Camptodactyly, Frontal bossing, Hypopl... OMIM:264180
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
Sclerosteosis
Diaphyseal undertubulation, Tall stature, Finger syndactyly, 2-3 finger syndactyly, Curved distal... ORPHA:3152
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Tongue nodules, Hydrocephalus, Postaxial hand polydactyly, ... OMIM:252100
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Filippi Syndrome
Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology... OMIM:272440
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Bohring-Opitz Syndrome
Retrognathia, Fixed elbow flexion, Facial hypotonia, Metacarpophalangeal joint contracture, Pectu... ORPHA:97297
Grant Syndrome
Abnormal palate morphology, Large fontanelles, Abnormal cortical bone morphology, Joint dislocati... ORPHA:2097
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long... OMIM:615503
Recombinant Chromosome 8 Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Scoliosis, Pectus excavatum, Camptodactyly, Low po... OMIM:179613
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Bilateral talipes equino... OMIM:618484
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Turricephaly, Hypotelorism, Single transverse palmar crease, Scoliosis, Vesicouret... OMIM:613174