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Gene: Ptch1 MGI:105373

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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.

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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, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
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
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Nondisjunction
Decreased fertility OMIM:158250
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Spermatogenic Failure 17
Male infertility OMIM:617214
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Adrenocortical Carcinoma, Hereditary
Choroid plexus carcinoma, Adrenocortical carcinoma OMIM:202300
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Medulloblastoma
Medulloblastoma OMIM:155255
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Oligodontia
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... OMIM:276300
Syndactyly, Type Iii
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger OMIM:186100
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Glioma Susceptibility 1
Ependymoma, Astrocytoma, Glioblastoma multiforme OMIM:137800
Taurodontism
Taurodontia OMIM:272700
Familial Multinodular Goiter
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol... ORPHA:276399
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... ORPHA:49042
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
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 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly OMIM:263450
Desmoid Disease, Hereditary
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors OMIM:135290
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... ORPHA:1891
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
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
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth OMIM:226650
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... ORPHA:3246
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Scarring alopecia of scalp OMIM:619787
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Familial Adenomatous Polyposis 1
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... OMIM:175100
Large Congenital Melanocytic Nevus
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma ORPHA:626
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Rhabdomyosarcoma, Embryonal, 2
Nephroblastoma, Pleuropulmonary blastoma, Ovarian thecoma, Embryonal rhabdomyosarcoma OMIM:180295
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Basal Cell Nevus Syndrome 1
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ... OMIM:109400
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Acropectoral Syndrome
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... OMIM:605967
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Enchondromatosis, Multiple, Ollier Type
Multiple enchondromatosis, Hemangioma, Chondrosarcoma OMIM:166000
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
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Wahab Syndrome
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... OMIM:615170
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... ORPHA:477781
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Monosomy 9Q22.3
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Palmar pits, Polydactyly, De... ORPHA:77301
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... ORPHA:1892
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... OMIM:150800
Omphalocele
Omphalocele ORPHA:660
Familial Adenomatous Polyposis
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... ORPHA:733
Birt-Hogg-Dube Syndrome
Multiple lipomas, Large intestinal polyposis, Fibrofolliculoma, Sebaceous hyperplasia, Renal cell... OMIM:135150
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615983
Neurofibromatosis, Type I
Spinal neurofibromas, Genu valgum, Astrocytoma, Aqueductal stenosis, Parathyroid adenoma, Spina b... OMIM:162200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Turcot Syndrome With Polyposis
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... ORPHA:99818
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... OMIM:605289
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly OMIM:185900
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Colorectal Cancer
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... OMIM:114500
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Short thumb, Neuroblastoma OMIM:610832
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Multiple Enchondromatosis, Maffucci Type
Multiple enchondromatosis, Hemangioma, Chondrosarcoma OMIM:614569
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Diastema, Cervical ribs, Brachydactyly, Single transverse palmar cre... OMIM:617927
Craniofrontonasal Dysplasia
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Pectus excavatum, Abnormality of hair text... ORPHA:1520
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia ORPHA:2871
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Subependymoma
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... ORPHA:251639
Ependymoma
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... ORPHA:251636
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... ORPHA:157801
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... OMIM:313500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormal ... ORPHA:294975
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Split-Hand/Foot Malformation 6
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand OMIM:225300
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Osteomesopyknosis
Infertility OMIM:166450
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Asherman Syndrome
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... ORPHA:137686
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Cutaneous Neuroendocrine Carcinoma
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... ORPHA:79140
Syndactyly, Type V
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... OMIM:186300
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Medulloblastoma
Medulloblastoma, Cerebellar medulloblastoma, Cerebellar calcifications, Cerebellar cyst, Spinal c... ORPHA:616
Blue Rubber Bleb Nevus
Cerebellar medulloblastoma, Intussusception, Volvulus, Hemangioma, Intestinal bleeding, Rectal pr... OMIM:112200
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Syndactyly-Polydactyly-Earlobe Syndrome
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... OMIM:186350
Summitt Syndrome
Syndactyly, Obesity OMIM:272350
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... ORPHA:488232
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus OMIM:613681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Wide anteri... ORPHA:3098
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
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
Caudal Appendage-Deafness Syndrome
Caudal appendage, Abnormal digit morphology, Cryptorchidism ORPHA:1123
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp ORPHA:79402
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Joint contracture of the hand, Frontal upsweep of hair, Clinodactyly, Brachydactyl... OMIM:600325
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... ORPHA:3352
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Hamartoma, Toe syndactyly, Spina bifida occulta, Preaxial polyda... ORPHA:64754
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility OMIM:300719
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Retrognathia, Enamel hypoplasia, High palate OMIM:617915
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Obesity, Postaxial polydactyly OMIM:615984
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Hyperlordosis, Ulnar deviation of finger, Midface retrusion, Abnormal distal phala... ORPHA:1387
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Cornelia De Lange Syndrome 5
Brachycephaly, Deeply set eye, Small hand, Hypogonadism, Decreased testicular size, Toe syndactyl... OMIM:300882
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Polymerase Proofreading-Related Adenomatous Polyposis
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... ORPHA:447877
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Atrophic scars OMIM:226700
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... OMIM:174400
Brachydactyly, Type B1
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... OMIM:113000
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Ulnar deviation of the wrist, Clinodactyly, Long eyelashes, Midface... OMIM:618577
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Retinoblastoma
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... ORPHA:790
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... OMIM:609432
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Midface retrusion, Metacarpal synostosis, Hypertelorism, Proptosis, Brachydactyly ORPHA:35099
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Non-Distal Trisomy 10Q
Brachycephaly, Frontal bossing, Pectus excavatum, Hypertelorism, Scoliosis, Cryptorchidism ORPHA:1695
Exostoses, Multiple, Type Ii
Genu valgum, Coxa vara, Short metacarpal, Chondrosarcoma, Scapular exostoses, Pelvic bone exostos... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Coxa vara, Short metacarpal, Chondrosarcoma, Scapular exostoses, Pelvic bone exostos... OMIM:133700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Enamel hypoplasia, Mandibular prognathia, High palate, Pierre-Robin sequence, Hip contracture, Mi... OMIM:618363
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors OMIM:183300
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis ORPHA:488191
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Polycystic kidney dysplasia, ... OMIM:617866
Brachydactyly Type B
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... ORPHA:93383
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Familial Multiple Lipomatosis
Overgrowth, Medulloblastoma, Odontogenic keratocysts of the jaw, Bowing of the long bones ORPHA:199276
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Glioma Susceptibility 9
Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung OMIM:616568
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Brachydactyly Type B2
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... ORPHA:140908
Phakomatosis Pigmentokeratotica
Nephroblastoma, Basal cell carcinoma, Pheochromocytoma, Hemangioma, Patchy alopecia, Cutaneous me... ORPHA:2874
Carpenter Syndrome
Polydactyly, Genu valgum, Oxycephaly, Finger syndactyly, Turricephaly, External genital hypoplasi... ORPHA:65759
Pierpont Syndrome
Brachycephaly, Short toe, High anterior hairline, Deeply set eye, Short foot, Short finger, Midfa... OMIM:602342
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Spinal cord tumor, Lipoma, Rhabdomyosarcoma ORPHA:35125
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Deeply set eye, Tapered finger, Kyphosis, Self-injurious behavior, Anxiety, ... OMIM:618512
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Trichodental Dysplasia
Conical tooth, Hypodontia, Odontodysplasia OMIM:601453
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Biemond Syndrome Type 2
Hydrocephalus, Obesity, Preaxial polydactyly ORPHA:141333
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones OMIM:600384
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Decreased testicular size, Synophrys, Scoliosis, Cryptorchidism, Low p... ORPHA:85287
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Brachydactyly-Syndactyly, Zhao Type
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... ORPHA:93409
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth ORPHA:248
7P22.1 Microduplication Syndrome
Hypertelorism, Cryptorchidism ORPHA:314034
Borjeson-Forssman-Lehmann Syndrome
Short toe, Thickened calvaria, Scheuermann-like vertebral changes, Tapered finger, Deeply set eye... OMIM:301900
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Retrognathia, Radial deviation of the hand, Long philtrum, Cleft soft pal... ORPHA:2756
Pierpont Syndrome
Brachycephaly, Short toe, High anterior hairline, Deeply set eye, Short finger, Hypertelorism, Ex... ORPHA:487825
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Limb joint contracture, Atypic... ORPHA:251393
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Pilomatrixoma
Pilomatrixoma OMIM:132600
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Microdontia of primary teeth, U-Shaped upper lip ve... OMIM:234250
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Obtuse angle of mandible, Thin bony cortex, Coxa valga, High palate, Wide ant... ORPHA:85184
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Cone-shaped epiphysis, Postaxial polydactyly, Thoracic hypoplasia, Short long bo... OMIM:613091
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Tapered finger, Hypogonadism, Hypoplasia of penis, Cryptorchidism, Micropenis ORPHA:85274
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,... OMIM:269300
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral clavicle hook, Ace... OMIM:617405
Xq27.3Q28 Duplication Syndrome
Sparse body hair, Deeply set eye, Small hand, Hypogonadism, Premature ovarian insufficiency, Decr... ORPHA:261483
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... ORPHA:2325
Greig Cephalopolysyndactyly Syndrome
Broad hallux, Hirsutism, Postaxial hand polydactyly, Scaphocephaly, Preaxial foot polydactyly, Ca... OMIM:175700
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Gorlin Syndrome
Palmar pits, Brachycephaly, Vertebral fusion, Melanocytic nevus, Vertebral wedging, Brachydactyly... ORPHA:377
Acrodysostosis
Brachycephaly, Melanocytic nevus, Epiphyseal stippling, Midface retrusion, Abnormality of the nai... ORPHA:950
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Discolored lateral inci... OMIM:601668
Muenke Syndrome
Brachycephaly, Short middle phalanx of toe, Plagiocephaly, Capitate-hamate fusion, Coronal cranio... OMIM:602849
Zimmermann-Laband Syndrome 3
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2... OMIM:618658
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth ORPHA:79405
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Fixed elbow flexion, Micrognathia, Fragmented epiphyses, D... ORPHA:166016
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Tapered finger, Short foot, Emotional lability, Cryptorchidism, Thick eyebrow OMIM:309585
Congenital Myopathy 13
Brachycephaly, Flexion contracture, Fatty replacement of skeletal muscle, Midface retrusion, Kyph... OMIM:255995
Gordon Syndrome
Camptodactyly of finger, Decreased muscle mass, Finger syndactyly, Clinodactyly of the 5th finger... ORPHA:376
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Kyphosis, Bipolar affective disorder, Frontal bossing, Pectus excavatum, Hypertel... ORPHA:276630
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly, 2-3 toe syndactyly, Precocious puberty, Deeply set eye, Aggressive behavior, Hypog... ORPHA:3306
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615982
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Nat... OMIM:617925
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Hypospadias, Sandal gap, Scolio... OMIM:615761
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Basal Cell Carcinoma, Susceptibility To, 1
Basal cell carcinoma OMIM:605462
Trichodentoosseous Syndrome
Microdontia, Taurodontia, Widely spaced teeth OMIM:190320
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... ORPHA:79501
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Hyperlordosis, Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing... ORPHA:2511
Polydactyly, Postaxial, Type A7
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... OMIM:617642
Hao-Fountain Syndrome
Aggressive behavior, Hallux valgus, Clinodactyly of the 5th finger, Cryptorchidism, Trigonocephal... OMIM:616863
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... ORPHA:380
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Long philtrum, Wide anterior fontanel, Coxa valga, Abnormality of cranial sutures, M... ORPHA:163649
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... OMIM:225280
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, High palate, Micrognathia, Overlapping toe, Preaxial polydactyly, Overlapping finge... OMIM:618142
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Ollier Disease
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ... ORPHA:296
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... OMIM:609052
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Stomach cancer, Abnormality of the upper limb, Multicystic kidney dysplasia, Myel... ORPHA:1052
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Horizontal ribs, Bell-shaped thorax, Encephalocele, Natal tooth, Short long bone, Sh... OMIM:616300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cryptorchidism OMIM:274205
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Retrognathia, Wrist flexion contracture, Knee flexion contracture, High ... OMIM:619110
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... ORPHA:1193
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Sparse lateral eyebrow, Turricephaly, 2-5 finger cutaneous synd... OMIM:601224
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Dental Anomalies And Short Stature
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... OMIM:601216
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... ORPHA:90652
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... ORPHA:523
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Aggressive behavior, Anxiety, Decreased testicular size, Clinodactyly of the 5th f... ORPHA:251019
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Short sternum, Multicystic kidney dysplasia, Micrognathia, Hydrocephalus, Embryon... OMIM:257300
Nijmegen Breakage Syndrome
Lymphoma, Medulloblastoma, 2-3 toe syndactyly, Micrognathia, Malar prominence, Sinusitis, Sandal ... OMIM:251260
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth ORPHA:79406
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... ORPHA:1113
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... OMIM:600175
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Trisomy 4P
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Hypospadias, Short neck, Hy... ORPHA:1738
Acrofrontofacionasal Dysostosis 2
Brachycephaly, Sacral dimple, Bifid scrotum, Shawl scrotum, Widow's peak, Hand polydactyly, Broad... OMIM:239710
Laurence-Moon Syndrome
Brachycephaly, Finger syndactyly, Hand polydactyly, Hypoplasia of penis, Brachydactyly, Cryptorch... ORPHA:2377
1Q21.1 Microduplication Syndrome
Hip dysplasia, Hip dislocation, Frontal bossing, Hypospadias, Hypertelorism, Cryptorchidism, Arth... ORPHA:250994
Ameloonychohypohidrotic Syndrome
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... OMIM:104570
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Intellectual Disability, Wolff Type
Camptodactyly of finger, Low posterior hairline, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:3080
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma, Verrucae OMIM:618267
Gómez-López-Hernández Syndrome
Brachycephaly, Toenail dysplasia, Turricephaly, Midface retrusion, Alopecia of scalp, Hypertelorism ORPHA:1532
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Abnormal pelvic girdle b... ORPHA:474
Meige Disease
Angiosarcoma ORPHA:90186
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Hypogonadism OMIM:240950
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
48,Xyyy Syndrome
Enamel hypoplasia, High palate, Long philtrum, Thick lower lip vermilion, Irregularly spaced teeth ORPHA:99329
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Congenital Central Hypoventilation Syndrome
Neoplasm of the central nervous system, Aganglionic megacolon, Ganglioneuroma, Neuroblastoma, Gan... ORPHA:661
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Bardet-Biedl Syndrome 22
Polydactyly, Obesity, Large for gestational age, Postaxial foot polydactyly OMIM:617119
19P13.12 Microdeletion Syndrome
Brachycephaly, Precocious puberty, Finger syndactyly, Kyphosis, Self-injurious behavior, Craniosy... ORPHA:254346
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Hyperprolactinemia
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea OMIM:615555
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Recombinant Chromosome 8 Syndrome
Brachycephaly, Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5th finger, Midf... OMIM:179613
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly, Precocious puberty, Coxa valga, Broad hallux, Hirsutism, Short neck, Short palm, H... OMIM:620073
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
2Q23.1 Microdeletion Syndrome
Brachycephaly, Paroxysmal bursts of laughter, Self-injurious behavior, Hip dysplasia, Synophrys, ... ORPHA:228402
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Enamel hypoplasia, Carious teeth OMIM:614564
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Pseudodiastrophic Dysplasia
Brachycephaly, Hypoplasia of the odontoid process, Camptodactyly, Midface retrusion, Elbow disloc... OMIM:264180
48,Xxxy Syndrome
Brachycephaly, Coxa valga, Hip dislocation, Elbow dislocation, Short neck, Talipes equinovarus, H... ORPHA:96263
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Lateral cla... ORPHA:1801
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Kyphosis, Clinodactyly, Dolichocephaly, Single transverse palmar crease, Sho... ORPHA:178148
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Ovoid vertebral bodi... ORPHA:40
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp OMIM:226670
Mohr Syndrome
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Postaxial hand po... OMIM:252100
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Femur-Fibula-Ulna Complex
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... ORPHA:2019
Intellectual Developmental Disorder, Autosomal Dominant 26
Decreased palmar creases, Brachycephaly, Kyphosis, Clinodactyly of the 5th finger, Hypertelorism,... OMIM:615834
Nijmegen Breakage Syndrome
Lymphoma, B-cell lymphoma, Anal atresia, Neoplasm, Skeletal muscle atrophy, Acute leukemia, Cleft... ORPHA:647
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Dolichocephaly, Proptosis, Cryptorchidism, Brachydactyly ORPHA:3303
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... ORPHA:3250
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Widely patent coronal suture, Short palm,... OMIM:228520
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Tall stature, Diap... ORPHA:3152
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Aplasia/Hypoplasia of the eyebrow, Kyphosis, Toe syndactyly, Aplasia/Hypoplasi... ORPHA:3082
Bardet-Biedl Syndrome 8
Brachycephaly, Hypospadias, Postaxial polydactyly, Hypogonadism OMIM:615985
Ritscher-Schinzel Syndrome 4
Brachycephaly, Curly hair, Tapered finger, Plagiocephaly, Deeply set eye, Aggressive behavior, Hi... OMIM:619435
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short long bone, Short ribs, Thoracic dysplasia, Femoral bowing, Syndactyly, Preaxial polydactyly... OMIM:615503
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Grant Syndrome
Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fo... ORPHA:2097
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Brachydactyly, Type B2
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Filippi Syndrome
Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Thin vermilion border,... OMIM:272440
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Hypogonadism, Decreased testicular size, Congenital muscular dystrophy, Abnormality of ... ORPHA:1875
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Bohring-Opitz Syndrome
Nephroblastoma, Medulloblastoma, Retrognathia, Ulnar deviation of the wrist, Fixed elbow flexion,... ORPHA:97297
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Parastremmatic Dwarfism
Genu valgum, Flexion contracture, Kyphosis, Short neck, Scoliosis, Bowing of the long bones OMIM:168400
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Kyphosis, Hip dislocation, Hypertelorism, Hirsutism, Scoliosis, Short foot, Talipes e... OMIM:300434
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... OMIM:618729
Cornelia De Lange Syndrome 2
Brachycephaly, Limited elbow movement, Small hand, Synophrys, Clinodactyly, Long eyelashes, Thick... OMIM:300590
Arthrogryposis, Distal, Type 4
Distal arthrogryposis, Tibial deviation of toes, Lumbar scoliosis, Kyphosis, 2-5 finger cutaneous... OMIM:609128
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Shawl scrotum, Decreased testicular size, Dolichocephaly, Hypertelo... OMIM:615433
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters ORPHA:79411
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia... ORPHA:166108
Bowen-Conradi Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Rocker bottom foot, Cryptorchidism ORPHA:1270
17Q11 Microdeletion Syndrome
Myelodysplasia, Plexiform neurofibroma, Thickened cortex of long bones, Multiple mucosal neuromas... ORPHA:97685
Desmoid Tumor
Fibroma, Malabsorption, Neoplasm of the skin, Intestinal polyposis, Intestinal obstruction, Desmo... ORPHA:873
Seckel Syndrome 5
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... OMIM:613823
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Tapered finger, Small hand, Plagiocephaly, Deeply set eye, Hip dysplasia, Clinodac... OMIM:618672
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Micrognathia, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, ... OMIM:614120
Familial Hyperprolactinemia
Female hypogonadism, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Carpenter Syndrome 1
Brachycephaly, Precocious puberty, Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, ... OMIM:201000
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
2-3 toe syndactyly, Midface retrusion, Metatarsus adductus, Frontal balding, Blue irides, Lumbar ... ORPHA:3041
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Turricephaly, Toe syndactyly, Craniosynostosis, Radioulnar synostosis, Hypospadias... ORPHA:171839
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, H