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Gene: Tyrp1 MGI:98881

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tyrosinase-related protein 1
Synonyms:
TRP-1,  TRP1,  Oca3,  Tyrp,  isa

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tyrp1 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 associated to Tyrp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433

The table below shows human diseases predicted to be associated to Tyrp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
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
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... OMIM:619165
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Horner Syndrome, Congenital
Heterochromia iridis OMIM:143000
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Spermatogenic Failure 17
Male infertility OMIM:617214
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Facial Spasm
Anisocoria OMIM:134300
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation ORPHA:99000
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Pyknoachondrogenesis
Stillbirth OMIM:265880
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation ORPHA:370097
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... ORPHA:895
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:155100
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Progressive Hemifacial Atrophy
Irregular hyperpigmentation, Heterochromia iridis ORPHA:1214
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear... ORPHA:113
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst OMIM:620086
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Hemifacial Atrophy, Progressive
Microtia, Patchy alopecia, Poliosis OMIM:141300
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:187900
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosomes in melanocytes, Freckl... ORPHA:54
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Meier-Gorlin Syndrome 8
Microtia, Low-set ears OMIM:617564
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation of the skin, I... ORPHA:177910
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... ORPHA:90646
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae OMIM:314050
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Multiple System Atrophy 1, Susceptibility To
Iris atrophy OMIM:146500
Microtia-Anotia
Anotia, Microtia OMIM:600674
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Iris hypo... ORPHA:231169
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Phenylketonuria
Fair hair, Generalized hypopigmentation, Cataract, Blue irides OMIM:261600
Obesity And Hypopigmentation
Red hair OMIM:620195
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia OMIM:275400
Wilson-Turner Syndrome
Thick eyebrow, Microtia, Uplifted earlobe ORPHA:3459
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia OMIM:612138
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Synophrys, Microtia, Hirsutism, Low-set ears ORPHA:357175
Zechi-Ceide Syndrome
Thick hair, Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Condu... ORPHA:217017
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearin... OMIM:616367
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Coxoauricular Syndrome
Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:1508
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... ORPHA:3437
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis OMIM:601399
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Intellectual Developmental Disorder, Autosomal Recessive 35
Synophrys, Microtia, Hirsutism, Low-set ears OMIM:615162
Acrofrontofacionasal Dysostosis 1
Iris atrophy OMIM:201180
Parenti-Mignot Neurodevelopmental Syndrome
Posteriorly rotated ears, Synophrys, Cupped ear, Microtia, Low-set ears OMIM:619873
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Microtia OMIM:618158
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Sparse eyelashes, Atresia of the external auditory canal OMIM:300946
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Protruding ear, Multiple cafe-au-lait spots, Microtia... ORPHA:2316
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Waardenburg Syndrome, Type 3
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... OMIM:148820
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Short Stature And Facioauriculothoracic Malformations
Overfolded helix, Cupped ear, Microtia, Low-set ears OMIM:609654
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity ORPHA:71526
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se... ORPHA:894
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Abnormal hair pattern, Synophrys, Low posterior hairline, Micr... ORPHA:2983
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
6Q16 Microdeletion Syndrome
Thick eyebrow, Microtia, Low-set ears, Abnormal ear morphology ORPHA:171829
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Isotretinoin Syndrome
Hypoplastic toenails, Microtia, Abnormality of the outer ear ORPHA:2305
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Weiss-Kruszka Syndrome
Hypoplastic fingernail, Hearing impairment, Highly arched eyebrow, Cupped ear, Protruding ear, Mi... OMIM:618619
Myh9-Related Disease
Menorrhagia, Prolonged bleeding time, Bruising susceptibility, Spontaneous, recurrent epistaxis ORPHA:182050
Acrocephalopolydactyly
Microtia ORPHA:221054
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
3-Hydroxyisobutyric Aciduria
Microtia ORPHA:939
Coats Disease
Leukocoria OMIM:300216
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:614074
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Absent anterior chamber of the eye OMIM:259770
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Microtia ORPHA:1703
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia OMIM:243440
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Supernumerary nipple, Cupped ear, Microtia, Conductive hearing... ORPHA:246
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides OMIM:615516
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Sparse eyebrow, Sensorineural hearing impairm... OMIM:606164
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Parietal Foramina With Cleidocranial Dysplasia
Microtia OMIM:168550
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Even-Plus Syndrome
Sparse hair, Synophrys, Microtia, Highly arched eyebrow OMIM:616854
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... ORPHA:50815
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Humeroradial Synostosis
Small earlobe, Microtia OMIM:236400
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
Catifa Syndrome
Microtia OMIM:618761
Chanarin-Dorfman Syndrome
Alopecia, Sensorineural hearing impairment, Microtia OMIM:275630
Atelis Syndrome 1
Irregular hyperpigmentation, Glue ear, Microtia, Cafe-au-lait spot OMIM:620184
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Microtia, Nail d... ORPHA:163654
Neurooculorenal Syndrome
Iris atrophy OMIM:620305
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microtia, Posteriorly rotated ears, Low-set ears, Long eyelashes OMIM:618089
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Highly arched eyebrow, Synophrys, Melanocyti... ORPHA:1327
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Paganini-Miozzo Syndrome
Microtia, Posteriorly rotated ears, Low-set ears OMIM:301025
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Microtia, Melanocytic nevus ORPHA:1597
20P12.3 Microdeletion Syndrome
Thickened helices, Microtia ORPHA:261295
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Synophrys, Microtia, Recurrent otitis media, Thick eyebrow OMIM:602562
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Ocular Albinism With Late-Onset Sensorineural Deafness
Ocular albinism ORPHA:1000
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular albinism, Iris transilluminat... OMIM:614077
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microtia ORPHA:2994
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Sparse eyebrow, Protruding ear, Microtia, Low-set ears OMIM:618829
Juvenile Xanthogranuloma
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation ORPHA:158000
Riboflavin Transporter Deficiency
Iris hypopigmentation ORPHA:97229
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Microtia, Sparse eyelashes, Abnormality of the hairline ORPHA:370079
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma ORPHA:1791
Albinism, Ocular, Type I
Giant melanosomes in melanocytes, Ocular albinism OMIM:300500
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation ORPHA:834
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Abnormal hai... ORPHA:1770
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect OMIM:617306
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Microtia ORPHA:2145
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism ORPHA:2221
Verloove Vanhorick-Brubakk Syndrome
Microtia, Atresia of the external auditory canal, Low-set ears ORPHA:3429
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Fine hair, Microtia, Long eyelashes, Macrotia, Hearing impairment OMIM:620250
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Synophrys, Microtia, Hirsutism OMIM:616977
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Microtia, Hearing impairment OMIM:616006
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Microtia, Low-set ears ORPHA:171839
Edinburgh Malformation Syndrome
Brushfield spots ORPHA:1895
Sweeney-Cox Syndrome
Uplifted earlobe, Widow's peak, Cupped ear, Low anterior hairline, Microtia, Low-set ears, Small ... OMIM:617746
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Microtia, Low-set ears, Hearing impairment OMIM:619056
Nager Syndrome
Low-set, posteriorly rotated ears, Sparse lower eyelashes, Microtia, Atresia of the external audi... ORPHA:245
Buratti-Harel Syndrome
Posteriorly rotated ears, Microtia, Small nail, Low-set ears, Sparse medial eyebrow OMIM:619314
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Tonne-Kalscheuer Syndrome
Blue irides OMIM:300978
Distal Deletion 9P
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphol... ORPHA:1642
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots, Failure to thri... ORPHA:100
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Griscelli Syndrome
Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Iris hypopig... ORPHA:381
Oculocutaneous Albinism Type 5
Ocular albinism ORPHA:370091
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microtia ORPHA:2547
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Cafe-au-lait spot, Blue irides ORPHA:3041
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Aplasia/Hypoplasia of the external ear ORPHA:168486
Saethre-Chotzen Syndrome
Abnormal hair pattern, Prominent crus of helix, External ear malformation, Sensorineural hearing ... ORPHA:794
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Muenke Syndrome
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Hypermela... ORPHA:53271
Crouzon Syndrome
Hypopigmented skin patches, Melanocytic nevus, Conductive hearing impairment, Narrow internal aud... ORPHA:207
Vitamin K Antagonist Embryofetopathy
Microtia, Hearing impairment ORPHA:1914
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Scalp-Ear-Nipple Syndrome
Posteriorly rotated ears, Underdeveloped antitragus, Sparse axillary hair, Anteverted ears, Spars... OMIM:181270
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... ORPHA:2878
Ohdo Syndrome
Sparse eyebrow, Stenosis of the external auditory canal, Microtia, Hearing impairment OMIM:249620
Aortic Aneurysm, Familial Thoracic 4
Abnormal iris pigmentation OMIM:132900
Lacrimoauriculodentodigital Syndrome 3
Absent eyelashes, Cupped ear, Microtia, Hearing impairment OMIM:620193
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Microtia OMIM:619817
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cleft helix, External ear malformat... ORPHA:137888
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Underdeveloped antitragus, Abnormal antihelix morphology, Microti... ORPHA:2036
19P13.3 Microduplication Syndrome
Microtia, Posteriorly rotated ears, Low-set ears ORPHA:447980
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
X-Linked Intellectual Disability, Van Esch Type
Microtia ORPHA:163976
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Cafe-au-lait spot, Microtia, Posteriorly rotated ears, Low-set ears OMIM:618336
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Distal Xq28 Microduplication Syndrome
Absent antihelix, Cafe-au-lait spot, Microtia, Aplasia/Hypoplasia of the eyebrow ORPHA:293939
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Atresia of the external auditory canal, Small nail, Conductive hearing impairment, Stenos... OMIM:608257
Essential Thrombocythemia
Prolonged bleeding time ORPHA:3318
Mast Cell Sarcoma
Hypoplasia of the ear cartilage ORPHA:66661
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Highly arched eyebrow, Aplasia/Hypoplasia of the external ear, Long eyelashes, Low-set ears, Macr... ORPHA:505237
Femoral-Facial Syndrome
Microtia, Low-set ears ORPHA:1988
Ring Chromosome 12 Syndrome
Hirsutism, Microtia, Low-set ears, Breast hypoplasia, Dystrophic toenail ORPHA:1439
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage ORPHA:1035
Lacrimoauriculodentodigital Syndrome 2
Cupped ear, Microtia, Hearing impairment OMIM:620192
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Abnormal pupil morphology, Microcornea, Ectopia pupillae, Astigmatism, Ax... ORPHA:261552
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Posterior embryot... ORPHA:912
Squalene Synthase Deficiency
Macrotia, Posteriorly rotated ears, Abnormality of hair pigmentation, Low-set ears OMIM:618156
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma OMIM:214110
Recon Progeroid Syndrome
Attached earlobe, Hyperconvex thumb nails, Absent lower eyelashes, Microtia, Hirsutism OMIM:620370
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Noonan Syndrome 13
Cafe-au-lait spot, Blue irides, Multiple lentigines OMIM:619087
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... OMIM:610536
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Cupped ear, Protruding ear, Low posterior hairline, Microtia, Long eyelash... OMIM:156200
Seckel Syndrome 7
Microtia OMIM:614851
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Microtia, Low-set ears OMIM:613320
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... ORPHA:2719
Schilbach-Rott Syndrome
Microtia, Posteriorly rotated ears OMIM:164220
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Microtia, Ocular albinism, Cupped ear ORPHA:1352
Brittle Cornea Syndrome 1
Red hair, Hearing impairment OMIM:229200
Wyburn-Mason Syndrome
Iris hypopigmentation ORPHA:53719
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... OMIM:613309
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Sparse eyebrow, Microtia, Small nail, Low-set ears OMIM:612530
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Microtia, Hearing impairment ORPHA:1926
Meier-Gorlin Syndrome 4
Microtia, Breast hypoplasia, Low-set ears OMIM:613804
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Acitretin/Etretinate Embryopathy
Microtia, Bilateral sensorineural hearing impairment, Cupped ear ORPHA:40366
Neurodevelopmental Disorder With Spasticity And Poor Growth
Synophrys, Nail pits, Large earlobe, Microtia, Long eyelashes, Low-set ears, Hirsutism OMIM:618076
Proteus-Like Syndrome
Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentation, Heterochromia i... ORPHA:2969
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Congenital Disorder Of Deglycosylation 2
Cleft earlobe, Microtia, Highly arched eyebrow, Hearing impairment OMIM:619775
Congenital Disorder Of Glycosylation, Type Iig
Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of the ... OMIM:611209
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Microtia, Low-set ears, Sparse hair, Woolly hair, Cafe-au-la... OMIM:222470
Townes-Brocks Syndrome 2
Overfolded helix, Cupped ear, Microtia OMIM:617466
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Posteriorly rotated ears, Microtia, Small nail, Low-set ears, Sparse hair, Nail dysplasia, Breast... OMIM:614813
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Posteriorly rotated ears, Microtia, Long eyelashes, Low-set ears, Absent axillary hair, Breast hy... OMIM:601353
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... ORPHA:79430
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Aplasia/Hypoplasia of the eyeb... ORPHA:990
Distal Triplication 15Q
Sensorineural hearing impairment, Cupped ear, Microtia, Abnormal helix morphology, Low-set ears ORPHA:314588
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Ohdo Syndrome, X-Linked
Posteriorly rotated ears, Sparse eyebrow, High anterior hairline, Microtia, Low-set ears, Stenosi... OMIM:300895
21Q22.11Q22.12 Microdeletion Syndrome
Microtia, Hypoplastic nipples, Small nail, Low-set ears, Recurrent otitis media, Periorbital hype... ORPHA:261323
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Microtia OMIM:212112
Fg Syndrome Type 1
Sensorineural hearing impairment, Cupped ear, Microtia, Frontal upsweep of hair, Stenosis of the ... ORPHA:93932
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Microtia, Abnormality of the outer ear, Hearing impairment ORPHA:2728
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Abnormality of skin pigmentation, Microtia, Conductive hearing imp... ORPHA:2135
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Hematemesis, Intracrania... ORPHA:906
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura ORPHA:809
Contractures-Developmental Delay-Pierre Robin Syndrome
Overfolded helix, Microtia, Lop ear ORPHA:436003
Pelvis-Shoulder Dysplasia
Microtia, Abnormal pinna morphology, Facial hirsutism ORPHA:2839
Angelman Syndrome
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... ORPHA:920
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Kagami-Ogata Syndrome
Frontal hirsutism, Microtia OMIM:608149
Noonan Syndrome 4
Blue irides OMIM:610733
Oculoauricular Syndrome
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... OMIM:612109
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Meier-Gorlin Syndrome 2
Microtia, Abnormal pinna morphology, Breast hypoplasia OMIM:613800
Tarp Syndrome
Prominent antihelix, Microtia, Posteriorly rotated ears, Low-set ears OMIM:311900
Van Maldergem Syndrome 2
Sensorineural hearing impairment, High anterior hairline, Microtia, Atresia of the external audit... OMIM:615546
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Sturge-Weber Syndrome
Conjunctival telangiectasia, Corneal dystrophy, Abnormal choroid morphology, Heterochromia iridis... ORPHA:3205
Acrofacial Dysostosis, Cincinnati Type
Macrotia, Anotia, Microtia OMIM:616462
Mycophenolate Mofetil Embryopathy
Hypoplastic toenails, Anotia, Microtia, Atresia of the external auditory canal, Hearing impairment ORPHA:268249
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Meier-Gorlin Syndrome 3
Posteriorly rotated ears, Sparse axillary hair, Sparse pubic hair, Microtia, Low-set ears, Breast... OMIM:613803
Nail-Patella Syndrome
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign ORPHA:2614
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorr... ORPHA:398079
Monosomy 9P
Thin nail, Highly arched eyebrow, Synophrys, Low posterior hairline, Abnormal antihelix morpholog... ORPHA:261112
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Thickened ears, Microtia ORPHA:363659
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Gingival bleeding, Bruising s... ORPHA:335
Meier-Gorlin Syndrome 5
Small earlobe, Microtia, Low-set ears OMIM:613805
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma OMIM:214100
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... ORPHA:233
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hypoplastic fingernail, Hyperpigmented/hypopigmented macules, Synophrys, Large fleshy ears, Micro... ORPHA:280633
Complete Androgen Insensitivity Syndrome
Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor... ORPHA:99429
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia OMIM:171480
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Distal Deletion 10Q
Hypoplastic toenails, Congenital sensorineural hearing impairment, Widow's peak, Cochlear malform... ORPHA:96148
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Extra concha fold, Sparse eyebrow, Low anterior hairline, Hypert... OMIM:209885
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Cafe-au-lait spot, Microtia, Hyperpigmentation of the skin OMIM:603467
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:604292
Intellectual Developmental Disorder, Autosomal Dominant 53
Microtia, Frontal upsweep of hair OMIM:617798
Axial Mesodermal Dysplasia Spectrum
Microtia ORPHA:1834
Koolen-De Vries Syndrome
Fair hair, Cataract, Iris hypopigmentation OMIM:610443
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Microtia, Low-set ears OMIM:616723
Periventricular Nodular Heterotopia 9
Posteriorly rotated ears, Synophrys, Microtia, Squared superior portion of helix, Hirsutism OMIM:618918
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Cousin Syndrome
Posteriorly rotated ears, Low anterior hairline, Low-set ears, Facial hirsutism, Stenosis of the ... OMIM:260660
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low posterior hairline, Microtia, Low-set ears, Prominent antitragus, Thick eyebrow OMIM:245600
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Acrofacial Dysostosis, Rodríguez Type
Microtia ORPHA:1788
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Microtia ORPHA:319675
Hand-Foot-Genital Syndrome
Microtia, Hypoplastic fifth toenail ORPHA:2438
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Absent nipple, Sparse eyebrow, Severe sensorineural hearing impairment,... OMIM:620186
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h... OMIM:210720
Aymé-Gripp Syndrome
Sparse scalp hair, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Long eye... ORPHA:1272
Ayme-Gripp Syndrome
Sparse scalp hair, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Nail dys... OMIM:601088
Van Maldergem Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Atresia of the externa... OMIM:601390
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:129900
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Chromosome 16P13.3 Duplication Syndrome
Posteriorly rotated ears, Synophrys, Low anterior hairline, Protruding ear, Microtia, Low-set ear... OMIM:613458
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:608233
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Sensorineural hearing impairment, Synophrys, Aplasia of the inner ear, Microtia, Hearing impairment ORPHA:90024
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Cupped ear, Micr... OMIM:263650
Tetraploidy
Hypoplasia of the ear cartilage ORPHA:3305
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma OMIM:614866
46,Xy Sex Reversal 4
Recurrent otitis media, Sensorineural hearing impairment, Microtia OMIM:154230
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Microtia, Curly eyelashes OMIM:611717
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Microtia, Low-set ears OMIM:277380
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal pinna morphology, Anteverted ears, Microtia, Low-set ears, Thickened helices, Hypoplasti... OMIM:617641
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidis... ORPHA:98754
Prader-Willi Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Cryptorchi... OMIM:176270
Adnp Syndrome
Sparse scalp hair, Protruding ear, Microtia, Low-set ears, High anterior hairline, Abnormality of... ORPHA:404448
Mullegama-Klein-Martinez Syndrome
Curly eyelashes, Sensorineural hearing impairment, Low anterior hairline, Absent stapes, Microtia... OMIM:301022
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... ORPHA:251061
Leukocyte Adhesion Deficiency Type Ii
Low anterior hairline, Microtia, Recurrent otitis media, Long eyelashes, Conductive hearing impai... ORPHA:99843
Faundes-Banka Syndrome
Sparse scalp hair, Hypoplastic toenails, Cupped ear, Microtia, Long ear, Low-set ears, Conductive... OMIM:619376
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Microtia, Posteriorly rotated ears, Low-set ears OMIM:301040
Fanconi Anemia, Complementation Group L
Cafe-au-lait spot, Anotia, Microtia, Low-set ears OMIM:614083
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidis... ORPHA:98793
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Gaucher Disease, Perinatal Lethal
Microtia, Low-set ears OMIM:608013
Opitz-Kaveggia Syndrome
Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair, Microtia, firs... OMIM:305450
Acrodysostosis 1 With Or Without Hormone Resistance
Blue irides, Melanocytic nevus OMIM:101800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidis... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidis... ORPHA:177901
Meier-Gorlin Syndrome 1
Hyperconvex nail, Microtia, Long eyelashes, Atresia of the external auditory canal, Low-set ears,... OMIM:224690
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Skin Creases, Congenital Symmetric Circumferential, 2
Posteriorly rotated ears, Uplifted earlobe, Synophrys, Low anterior hairline, Microtia, Low-set e... OMIM:616734
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of hair pigmentation ORPHA:90354
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Heterochromia iridis, Iris coloboma ORPHA:2995
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... ORPHA:99147
Tetraamelia-Multiple Malformations Syndrome
Microtia ORPHA:3301
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Anotia, Breast aplasia, Atresia of the external... ORPHA:2554
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Internal hemorrhage, Macular purpura ORPHA:49566
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigm... ORPHA:163746
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... ORPHA:2479
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microtia, Low-set ears OMIM:613603
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal ob... ORPHA:398069
Treacher-Collins Syndrome
Absent eyelashes, Abnormal hair morphology, Low anterior hairline, Microtia, Conductive hearing i... ORPHA:861
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia ORPHA:314679
Meier-Gorlin Syndrome 7
Sensorineural hearing impairment, Microtia, Breast aplasia, Thin eyebrow, Low-set ears, Hearing i... OMIM:617063
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Epidermolysis Bullosa Simplex With Pyloric Atresia
Scarring alopecia of scalp, Microtia, Nail dystrophy ORPHA:158684
Pallister-Hall Syndrome
Microtia, Posteriorly rotated ears, Atresia of the external auditory canal, Nail dysplasia OMIM:146510
17Q24.2 Microdeletion Syndrome
Otosclerosis, Synophrys, Microtia, Recurrent otitis media, Progressive conductive hearing impairm... ORPHA:529962
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... ORPHA:1435
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Posteriorly rot... OMIM:616835
Osteopathia Striata With Cranial Sclerosis
Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Overfolded helix OMIM:300373
Distal Deletion 12Q
Prominent ear helix, Fine hair, Microtia, Bilateral conductive hearing impairment, Small nail, Lo... ORPHA:96149
Faciodigitogenital Syndrome, Autosomal Recessive
Widow's peak, Microtia, Posteriorly rotated ears, Hearing impairment OMIM:227330
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microtia, Abnormal pinna morphology, Low-set ears, Low posterior hairline OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microtia, Low-set ears OMIM:614643
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Hypoplastic fingernail, Microtia, third degree, Absent eyelashes, Hypoplastic nip... OMIM:200110
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Hearing impairment ORPHA:95433
Treacher Collins Syndrome 1
Sparse lower eyelashes, Preauricular hair displacement, Microtia, Atresia of the external auditor... OMIM:154500
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Hematemesis, Melena, Gingival bleeding, Petechiae, Purpura OMIM:301000
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Koolen-De Vries Syndrome
Overfolded helix, Hypopigmentation of hair, Abnormality of hair texture, Protruding ear ORPHA:96169
Prader-Willi Syndrome
Hypopigmentation of hair, Cryptorchidism, Primary amenorrhea, Abdominal obesity, Hypogonadism, In... ORPHA:739
Galloway-Mowat Syndrome
Macrotia, Hypoplasia of the ear cartilage ORPHA:2065
Retinoblastoma
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis ORPHA:790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microtia, Atresia of the external auditory canal, Low-set ears OMIM:236670
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis OMIM:609136
Kagami-Ogata Syndrome
Frontal hirsutism, Microtia ORPHA:254519
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... ORPHA:1974
Au-Kline Syndrome
Sensorineural hearing impairment, Microtia, Supernumerary nipple, Sparse lateral eyebrow OMIM:616580
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Hy... ORPHA:636
Branchiooculofacial Syndrome
Hypoplastic fingernail, Posteriorly rotated ears, Supernumerary nipple, Sensorineural hearing imp... OMIM:113620
Myhre Syndrome
Fine hair, Microtia, Low-set ears, Sparse hair, Thick eyebrow, Hearing impairment OMIM:139210
Neuroocular Syndrome
Cataract, Brushfield spots, Lens coloboma, Blue irides, Microcornea, Peters anomaly, Stellate iri... OMIM:619539
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Microtia, Highly arched eyebrow, Hearing impairment ORPHA:2282
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair, Microtia, Low-set ears OMIM:620005
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Highly arched eyebrow, Low posterior hairline, Microtia, Chron... ORPHA:280
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Vacterl With Hydrocephalus
Microtia, third degree, Anotia, Abnormality of the outer ear ORPHA:3412
Thalidomide Embryopathy
Anotia, Abnormality of the outer ear, Hearing impairment ORPHA:3312
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea OMIM:249310
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Microtia, Posteriorly rotated ears, Aplasia/Hypoplasia of the nails ORPHA:163979
Craniofacioskeletal Syndrome
Microtia, Posteriorly rotated ears OMIM:300712
Menke-Hennekam Syndrome 1
Short ear, Prominent inferior crus of antihelix, Protruding ear, Long eyelashes, Low-set ears, Sp... OMIM:618332
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Large earlobe, Supernumerary nipple, Hypoplasia of the ear cartilage ORPHA:1236
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears OMIM:618500
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Isolated Arrhinia
Microtia ORPHA:1134
Charge Syndrome
Low-set, posteriorly rotated ears, Highly arched eyebrow, External ear malformation, Abnormality ... ORPHA:138
Turnpenny-Fry Syndrome
Sparse scalp hair, Melanocytic nevus, Microtia, Low-set ears, Conductive hearing impairment, Saty... OMIM:618371
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Van Esch-O'Driscoll Syndrome
Microtia, Protruding ear OMIM:301030
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Woolly hair, Uncombable hair, ... ORPHA:84064
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism OMIM:617050
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Orofaciodigital Syndrome Type 4
Microtia, third degree, Posteriorly rotated ears, Hypoplastic toenails, Abnormality of the ear, L... ORPHA:2753
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear... ORPHA:2363
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Toriello-Carey Syndrome
Abnormal pinna morphology, Sparse eyebrow, Anotia, Low-set ears, Thickened helices, Hearing impai... ORPHA:3338
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
Chromosome 1P36 Deletion Syndrome, Distal
Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Sensorineural hearing impairm... OMIM:607872
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Microtia, Low-set ears, Sparse hair OMIM:210710
Hemihyperplasia-Multiple Lipomatosis Syndrome
Microtia ORPHA:276280
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Sensorineural hearing impairment,... ORPHA:1606
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Holoprosencephaly 13, X-Linked
Microtia, Low-set ears, Hearing impairment OMIM:301043
Trisomy 8P
Astigmatism, Heterochromia iridis ORPHA:264450
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Abnormality of skin pigmentatio... OMIM:227650
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Vici Syndrome
Hypopigmentation of hair, Albinism, Sensorineural hearing impairment, Ocular albinism, Low-set ea... OMIM:242840
Diamond-Blackfan Anemia
Microtia, Low anterior hairline, Low-set ears ORPHA:124
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Relapsing Fever
Abnormal bleeding, Prolonged prothrombin time, Epistaxis ORPHA:91547
Down Syndrome
Conductive hearing impairment, Brushfield spots, Microtia OMIM:190685
Saethre-Chotzen Syndrome
Prominent crus of helix, Low anterior hairline, Microtia, Low-set ears, Hearing impairment OMIM:101400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Posteriorly rotated ears, Microtia, Hypoplastic nipples, Small nail, Frontal hirsutism ORPHA:96334
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Posteriorly rotated ears, Protruding ear, Frontal upsweep of hair, Long eyelashes, Low... OMIM:614756
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Hypoplasia of the... OMIM:618175
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Paronychia, Oligozoospermia,... ORPHA:125
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Sparse eyebrow, Microtia, Highly arched eyebrow, Hearing impairment OMIM:143095
Williams Syndrome
Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea... ORPHA:904
Hepatoportal Sclerosis
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage ORPHA:64743
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Oculodentodigital Dysplasia
Microcornea, Cataract, Abnormality iris morphology ORPHA:2710
Schinzel-Giedion Syndrome
Abnormality of the stapes, Generalized hypertrichosis, Abnormal cochlea morphology, Large earlobe... ORPHA:798
Weill-Marchesani Syndrome 2
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe... OMIM:608328
Cystinosis, Nephropathic
Male infertility, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithel... OMIM:219800
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr... OMIM:107480
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Posteriorly rotated ears, Abnormal eyelash... OMIM:619488
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Sparse eyelashes, Sparse eyebrow, Sensorineural hearing impairm... OMIM:216340
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... ORPHA:251510
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Hypoplastic toenails, Microtia, Low-set ears, Small earlobe OMIM:619522
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Tick-Borne Encephalitis
Vertigo, Tinnitus, Abnormality of the vestibular nerve, Hearing impairment ORPHA:297
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology ORPHA:90658
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Sialuria
Prolonged prothrombin time ORPHA:3166
Cog1-Cdg
Low-set, posteriorly rotated ears, Microtia ORPHA:263508
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Nail dysplas... ORPHA:672
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... ORPHA:744
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Anterior cham... ORPHA:91500
Charge Syndrome
Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu... OMIM:214800
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Peters-Plus Syndrome
Posteriorly rotated ears, Protruding ear, Low-set ears, Facial hypertrichosis, Stenosis of the ex... OMIM:261540
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Sensorineural hearing impairment, Microtia, Posteriorly rotated ears, Low-set ears OMIM:309580
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Prolonged prothrombin time OMIM:616271
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Townes-Brocks Syndrome
External ear malformation, Abnormal tragus morphology, Microtia, Overfolded helix, Hearing impair... ORPHA:857
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387
Williams-Beuren Syndrome
Premature graying of hair, Blue irides OMIM:194050
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear ORPHA:314647
Craniofacial Microsomia 1
Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Condu... OMIM:164210
C Syndrome
Low-set, posteriorly rotated ears, Abnormal hair pattern, Hypoplasia of the ear cartilage ORPHA:1308
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypopigmentation of hair, Ab... ORPHA:818
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Peters Plus Syndrome
Conductive hearing impairment, Microtia, second degree, Low-set, posteriorly rotated ears ORPHA:709
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time OMIM:267700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Hellp Syndrome
Prolonged prothrombin time, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Aspartylglucosaminuria
Chronic otitis media, Microtia ORPHA:93
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time OMIM:212750
Retinoblastoma
Leukocoria OMIM:180200
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time OMIM:212065
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time OMIM:603553
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Alg12-Cdg
Prolonged prothrombin time ORPHA:79324
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Microtia, Cupped ear, Hearing impairment OMIM:149730
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Buphthalmos, Lenti... ORPHA:534
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time ORPHA:20
Kasabach-Merritt Syndrome
Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time OMIM:617941
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Noonan Syndrome 1
Male infertility, Cryptorchidism, Low posterior hairline, Hypogonadism, Woolly hair, Cafe-au-lait... OMIM:163950
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Tyrosinemia, Type I
Melena, Prolonged prothrombin time, Gastrointestinal hemorrhage OMIM:276700
Floating-Harbor Syndrome
Conductive hearing impairment, Cochlear malformation, Low-set ears ORPHA:2044
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Marburg Hemorrhagic Fever
Abnormal bleeding, Excessive bleeding after a venipuncture, Subconjunctival hemorrhage, Prolonged... ORPHA:99826
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage ORPHA:247598
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Yellow Fever
Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Prolonged prothrombin ti... ORPHA:99829
Primary Sclerosing Cholangitis
Prolonged prothrombin time ORPHA:171
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Bleeding with minor or no trauma OMIM:619525
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286

Histopathology

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

There is no histopathology data for Tyrp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tyrp1.

No publications found that use IMPC mice or data for Tyrp1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tyrp1tm33651(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tyrp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tyrp1em1(IMPC)Bay Exon Deletion Mice

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