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Gene: Lztfl1 MGI:1934860

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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:
leucine zipper transcription factor-like 1
Synonyms:
6130400H19Rik,  5530402H04Rik

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 Lztfl1 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 Lztfl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c... OMIM:615994
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Pigmentary retinopathy, Obesity, Generalized hirsutism ORPHA:110

The table below shows human diseases predicted to be associated to Lztfl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
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
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
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
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
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
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
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
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
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
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
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
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Bardet-Biedl Syndrome 11
Retinopathy, Hypogonadism, Obesity OMIM:615988
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Va... OMIM:605231
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
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
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D... OMIM:616108
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity OMIM:615987
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Abnormal dental morphology, Short stature, Cryptorchidism, Obesity, Micropen... ORPHA:85274
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, Hypogonadism,... OMIM:615982
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Hypogonadism, Macular dystrophy, Micropenis, Rod-cone dystr... OMIM:615983
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Micrognathia, Insulin resistance, Truncal obesity, ... ORPHA:140941
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia OMIM:268010
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Abnormality of the dentition OMIM:251700
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi... OMIM:209900
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Abnormality ... OMIM:617406
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Oral ulcer OMIM:618287
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size... ORPHA:320391
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Malar prominence, Micrognathia, Insulin-resistant diabetes mellitus, Primary ... ORPHA:436182
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Hypogonadism, Rod-cone dystrophy, Vaginal atresia OMIM:615989
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity, Overgrowth, Polyphagia OMIM:620195
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... OMIM:204500
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Bardet-Biedl Syndrome 2
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... ORPHA:276580
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Spars... OMIM:275400
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Bardet-Biedl Syndrome 16
Short stature, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal de... OMIM:615993
Autism, Susceptibility To, X-Linked 6
Short philtrum, Obesity, Narrow mouth OMIM:300872
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Retinal dystrophy, Childhood-onset truncal obesity OMIM:610156
Nephronophthisis 15
Obesity, Retinal degeneration OMIM:614845
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... ORPHA:276575
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Morm Syndrome
Truncal obesity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Truncal obesity, Thin vermilion border, Hypogonadism, Intrauterine... ORPHA:261483
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy OMIM:617119
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Abnormality of the dentition, Cryptorchidism, Growth delay, Pigmentary... ORPHA:3363
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism, Narrow mouth, Malar flattening, Rod-cone dystrophy OMIM:615984
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Pol... ORPHA:329249
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Tall stature, Femoral hernia, Inguinal hernia, Micrognathia, H... ORPHA:2849
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Caudate atrophy, Hyperactivity, Reduced intraa... ORPHA:363400
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum ORPHA:85334
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Ceroid Lipofuscinosis, Neuronal, 1
Increased neuronal autofluorescent lipopigment, Flexion contracture, Optic atrophy, Cerebral atro... OMIM:256730
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic stea... OMIM:613877
Mcdonough Syndrome
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Cryptorchidism, Dental m... ORPHA:2471
Ceroid Lipofuscinosis, Neuronal, 3
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204200
Hernández-Aguirre Negrete Syndrome
Wide mouth, Deep philtrum, Obesity, Delayed puberty ORPHA:2139
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Congenital Generalized Lipodystrophy
Mandibular prognathia, Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precoci... ORPHA:528
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Obesity OMIM:601794
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Short s... ORPHA:261529
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis OMIM:615980
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dy... ORPHA:363741
Meckel Syndrome 12
Micrognathia, Hypoplasia of the uterus, Bifid uvula, Intrauterine growth retardation, Vaginal atr... OMIM:616258
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Alpha-Mannosidosis
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Inguinal hernia, Open bite, Splen... ORPHA:61
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Hypodontia, Obesity OMIM:620270
11P15.4 Microduplication Syndrome
Smooth philtrum, Obesity, Increased overbite, Long philtrum ORPHA:300305
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Retrognathia OMIM:191830
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Bardet-Biedl Syndrome 8
Hypogonadism, Rod-cone dystrophy, Hypospadias, Obesity OMIM:615985
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental m... ORPHA:436245
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Hypoplasia of the uterus, Intrauterine growth retardation,... OMIM:617914
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Att... ORPHA:369873
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Rod... OMIM:615986
Intellectual Developmental Disorder, X-Linked 91
High palate, Macrodontia, Obesity OMIM:300577
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Inguinal hernia, Micrognathia, Splenomegaly, Pancreatic l... ORPHA:1655
Laurence-Moon Syndrome
Small scrotum, Short stature, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis OMIM:245800
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size OMIM:614962
Chromosome Xq21 Deletion Syndrome
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration OMIM:303110
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity, Ventriculomegaly OMIM:300209
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Dow... ORPHA:85282
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorc... ORPHA:3085
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Mild short stature, High palate, Dental malocclusion OMIM:618292
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Short stature, Obesity OMIM:619058
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Obesity, Macular degeneration, Agenesis of corp... OMIM:604360
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Mulibrey Nanism
Dental crowding, Short stature, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental maloc... OMIM:253250
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Short Syndrome
Delayed eruption of teeth, Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy... OMIM:269880
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Umbilical hernia, E... OMIM:608594
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Atkin-Flaitz Syndrome
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... ORPHA:1193
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Decreased serum testosterone concentrati... ORPHA:2959
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational ag... OMIM:214150
Narcolepsy Type 1
Obesity ORPHA:2073
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop... OMIM:264470
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Short stature, Abnormality of the dentition ORPHA:1858
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... ORPHA:79083
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, H... OMIM:610717
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Micrognathia, Cryptorchidism, Optic atrophy, Orofacial cleft, Narrow mouth... ORPHA:3301
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ... OMIM:157980
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Fasting hypoglycem... ORPHA:769
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity, Short philtrum OMIM:300471
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Retinal dystrophy, Obesity, Cerebral atrophy OMIM:616756
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Hyperglycemia, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Cherubism
Jaw swelling, Optic neuropathy, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Nar... OMIM:118400
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Hsd10 Mitochondrial Disease
Restlessness, Hypoglycemia, Aggressive behavior, Optic atrophy, Abnormal mitochondrial morphology... OMIM:300438
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Facial palsy, Dental malocclusion, High palate, Dysphagia, Arthrogryposis ... OMIM:608931
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Orofacial cleft, Cholestasis, Gl... OMIM:615630
Rubinstein-Taybi Syndrome 2
Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ... OMIM:613684
Summitt Syndrome
Obesity OMIM:272350
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia, Obesity OMIM:600151
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Cleft palate, Parathyroi... ORPHA:2237
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Umbilical hernia, E... OMIM:269700
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
X-Linked Acrogigantism
Enlarged pituitary gland, Increased body mass index, Tall stature, Abnormal optic chiasm morpholo... ORPHA:300373
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Short stature, Micrognathia, Carious teeth, Pierre-Robi... OMIM:618363
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion OMIM:619692
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Small for gestational age, Short stature, Micrognathia, D... OMIM:610883
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Short stature, Obesity, Oligodontia, Everted lower lip vermilion, Anodontia ORPHA:276630
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... OMIM:256731
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... ORPHA:2457
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Precocious puberty, Postnatal growth retardation, Obesity, Downturned corners of mo... ORPHA:254525
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hyp... ORPHA:10
Seckel Syndrome 10
Microretrognathia, Retinal detachment, Acute pancreatitis, Diabetes mellitus, Impaired glucose to... OMIM:617253
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Momo Syndrome
Delayed eruption of teeth, Tall stature, Short stature, Large for gestational age, Thick lower li... ORPHA:2563
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... ORPHA:2975
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Hepatic steatosis OMIM:618400
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy, Decreased body weight ORPHA:324422
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resis... OMIM:262190
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy, Dilated fourth ventricle OMIM:615960
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Downturned corners of mouth, Clitoral hypoplasia, Cho... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Short stature OMIM:615541
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Optic atrophy, Retinal degeneration OMIM:252650
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... OMIM:615238
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Schaaf-Yang Syndrome
Mandibular prognathia, Abnormality of the philtrum, Failure to thrive in infancy, Impulsivity, Cr... OMIM:615547
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Optic atrophy, Obesity OMIM:614651
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Small for gestational age, Hypoglycemia, Micrognathia, ... ORPHA:73272
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Temple Syndrome
Decreased testicular size, Small for gestational age, Short stature, Micrognathia, Precocious pub... OMIM:616222
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, External genital hypoplasi... ORPHA:329178
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Alg6-Cdg
Puberty and gonadal disorders, Rod-cone dystrophy, Jaundice, Increased circulating androgen conce... ORPHA:79320
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Wagr Syndrome
Short stature, Micrognathia, Cryptorchidism, Obesity, Everted lower lip vermilion, Ambiguous geni... ORPHA:893
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Bardet-Biedl Syndrome 19
Cone/cone-rod dystrophy, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, ... OMIM:615996
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly ORPHA:2185
Fanconi Anemia, Complementation Group S
Macrodontia, Short stature, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcino... OMIM:617883
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Short stature, Spina bifida, Open bite, Abnormality of dental eruption, De... ORPHA:1327
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Short stature, Downturned corners of mouth, Truncal obesity, High palate, Short philtrum, Malar f... ORPHA:85280
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity OMIM:264120
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Acrootoocular Syndrome
Delayed eruption of teeth, Small for gestational age, Decreased response to growth hormone stimul... ORPHA:2980
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Precocious puberty, Postnatal growth retardation, Obesity, High palate, Short philt... ORPHA:254531
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Micrognathia, Precocious puberty, Cryptorchidism, Postn... ORPHA:96184
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Abdominal obesity, Thin vermilion borde... OMIM:300869
Craniosynostosis 3
Dental malocclusion OMIM:615314
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi... ORPHA:79086
Cri-Du-Chat Syndrome
Microretrognathia, Hyperactivity, Inguinal hernia, Hypospadias, Small for gestational age, Aggres... OMIM:123450
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Optic at... OMIM:261680
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short stature, Obesity, Hypogonadism, High palate, Abnormal testis morphology ORPHA:2233
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hypoplastic labia majora, Long philtrum, Malar flattening, Vaginal atresia, Fused labia minora OMIM:207410
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Short stature, Retinal thinning, Macular de... OMIM:270200
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Thick lower lip vermilion, Long penis, Gingival overgrow... OMIM:246200
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
14Q11.2 Microduplication Syndrome
Exaggerated cupid's bow, Aggressive behavior, Micrognathia, Polyphagia, Obesity, Attention defici... ORPHA:261229
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Laurence-Moon Syndrome
Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Type II diabetes melli... ORPHA:2377
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose tissue, Insulin resistance, ... ORPHA:199276
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Cryptorchidism, Flexion contractu... OMIM:619293
Silver-Russell Syndrome
Abnormality of male external genitalia, Dental crowding, Hypospadias, Cachexia, Micrognathia, Pre... ORPHA:813
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Mandibular prognathia, Dental crowding, Obesity OMIM:606772
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Nephronophthisis 14
Retinal degeneration OMIM:614844
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Dental... OMIM:612921
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Obesity, Cerebral atrophy, Wide mouth, Polyphagia, Self-mutilation OMIM:616521
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Micrognathia, Jaundice, Micronodular ci... OMIM:301045
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Truncal obesity, Everted lower lip v... ORPHA:2429
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Short stature, Micrognathia, Abnormality of the dentition, Cr... ORPHA:85321
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:616629
Beaulieu-Boycott-Innes Syndrome
Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion OMIM:613680
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weight, Downturne... ORPHA:398069
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increase... OMIM:232700
Wilson-Turner Syndrome
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Short stature, Malar prominence, Microgn... ORPHA:3459
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, High, narrow palate, Obesity, Azoospermia ORPHA:2183
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Synophrys, Obesity, Horizontal eyebrow, Congenital stationary night blindness, Cerebral cortical ... ORPHA:352530
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Intermediate Osteopetrosis
Abnormal dental morphology, Abnormality of the dentition, Cranial nerve compression, Dental maloc... ORPHA:210110
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Hypotonia-Cystinuria Syndrome
Tented upper lip vermilion, Hypergonadotropic hypogonadism, Facial palsy, Decreased response to g... OMIM:606407
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Trisomy 5P
Hypoplasia of penis, Short stature, Obesity ORPHA:1742
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala... OMIM:101200
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cone/cone-rod dystrophy, Chronic active hepatitis, H... OMIM:203800
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Macrodontia, Hyperactivity, Cryptorchidism, Poly... ORPHA:228402
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Abnormality... ORPHA:3163
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Thick lower lip vermilion, Obesity OMIM:300238
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Rod-c... OMIM:615994
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... ORPHA:3097
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Chung-Jansen Syndrome
Impulsivity, Micrognathia, Aggressive behavior, Cryptorchidism, Obesity, Thin vermilion border, H... OMIM:617991
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Partial agenesis of the corpus callosum, ... OMIM:616171
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Facial palsy, Cryptorchidism, Birth length greater than 97th perce... OMIM:310400
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Harrod Syndrome
Hypospadias, Cryptorchidism, Dental malocclusion, High palate, Narrow mouth, Intrauterine growth ... ORPHA:2115
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Tented upper lip vermilion, Exte... ORPHA:79322
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Pycnodysostosis
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence of primary t... ORPHA:763
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis,... OMIM:619737
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Hypospadias, Micrognathia, Proportionate short stature... OMIM:210600
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Micrognathia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Mic... ORPHA:3191
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... OMIM:619260
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Short stature, Micrognathia, Hypoplasia of the maxill... OMIM:257850
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Rod-cone dystrophy, Obesity OMIM:615633
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Mandibular prognathia, Hyperactivity, Obesity, Wide mouth, Inappropriate laughter, Polyphagia ORPHA:411515
Werner Syndrome
Abnormality of retinal pigmentation, Lipodystrophy, Lipoatrophy, Insulin resistance, Ovarian neop... ORPHA:902
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... OMIM:610127
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Obesity, Downturned corners of mouth, Wide mou... OMIM:617752
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... ORPHA:65288
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Retinal degeneration OMIM:616211
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention de... ORPHA:210548
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys... ORPHA:91
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Short stature, Micrognathia, Abnorm... OMIM:616331
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Macular degeneration, Abnormality of macular pigmenta... ORPHA:1573
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Hepatic steatosis OMIM:615119
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy ORPHA:370022
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short stature, Moderately short stature, Dental malocclusion, High pal... OMIM:612350
Huntington Disease
Caudate atrophy, Oral-pharyngeal dysphagia, Aggressive behavior, Cerebral atrophy, Weight loss, D... ORPHA:399
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:1873
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Rhizomelia, Postnatal growth retardation, Dental malocclusion, Abnormali... OMIM:608940
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Obesity OMIM:612463
6Q16 Microdeletion Syndrome
Micrognathia, Obesity, Abnormal temper tantrums, Retrognathia, Polyphagia ORPHA:171829
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Cornelia De Lange Syndrome 5
Short stature, Micrognathia, Postnatal growth retardation, Cryptorchidism, Cleft palate, Downturn... OMIM:300882
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Small scrotum, Inguinal he... ORPHA:96263
Myotonic Dystrophy 2
Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia OMIM:602668
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Co... OMIM:614613
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Endometriosis, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion... ORPHA:363444
Idiopathic Intracranial Hypertension
Papilledema, Obesity ORPHA:238624
Congenital Myopathy 9A
Cryptorchidism, Short stature, Tongue fasciculations, Obesity OMIM:618822
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Obesity, Crowded maxillary incisors ORPHA:397973
Myopathy, Myofibrillar, 8
Micrognathia, Achilles tendon contracture, Dental malocclusion, High palate, Joint contracture of... OMIM:617258
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Hypoglycemia, Optic atrophy, Cerebral atrophy, Frontotemp... ORPHA:391428
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Retrognathia, Blind vagina, High palate, Mi... ORPHA:456328
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,... ORPHA:2234
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter, Neuronal loss in central ne... OMIM:600274
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Severe short stature, Micrognathia, Tooth agenesi... ORPHA:633
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Abnormal dental enamel mo... ORPHA:816
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... OMIM:613327
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... OMIM:610628
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Thin upper lip vermilion, Decreased sens... ORPHA:456312
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity, Ventriculomegaly ORPHA:521390
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental crowding, External genital hypoplasia, Micrognathia, High palate, Short philtrum, Microdon... ORPHA:251028
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous ... ORPHA:786
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Retinal dystrophy, Low anterior hairline, Obesity, Rod-cone dystrophy ORPHA:261222
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Diabetes Mellitus, Permanent Neonatal, 2
Downturned corners of mouth, Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Abnormal optic disc morpho... ORPHA:96121
Fraser Syndrome
Encephalocele, Hypoplasia of penis, Small scrotum, Dental crowding, Hypospadias, Cleft upper lip,... ORPHA:2052
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Optic atrophy, Oligodontia, Mic... OMIM:618727
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Decreased response to growth hormone stimulation test, Hypospadias, Micrognathia... ORPHA:96182
11Q22.2Q22.3 Microdeletion Syndrome
Thin upper lip vermilion, Micrognathia, High, narrow palate, Obesity, Compulsive behaviors, Atten... ORPHA:444002
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:616562
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Pick Disease Of Brain
Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor... OMIM:172700
Zimmermann-Laband Syndrome
Abnormal external genitalia, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft pala... ORPHA:3473
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Cockayne Syndrome A
Mandibular prognathia, Micropenis, Loss of facial adipose tissue, Hepatomegaly, Retinal atrophy, ... OMIM:216400
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Everted lower lip vermilion, Obesity ORPHA:85286
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... OMIM:300942
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, He... ORPHA:369
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma... OMIM:101800
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Martsolf Syndrome 2
Camptodactyly of finger, Lateral ventricle dilatation, Brain atrophy, Camptodactyly, Decreased bo... OMIM:619420
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Cerebral atrophy, Latera... OMIM:617296
Scheie Syndrome
Retinal degeneration OMIM:607016
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina m... ORPHA:247768
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Wagro Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Aggressive behavior, Obesity, Agitation, Co... OMIM:612469
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Optic atrophy, Cerebral atrophy, Colpocephaly, Failure to thri... OMIM:616034
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Mic... OMIM:273395
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Brain atrophy, Failure to thrive, Retinal degeneration ORPHA:442835
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Thin upper lip vermilion, Micrognathia, Oral-pharyngeal dysphagia, Obesity, High palate, Long phi... ORPHA:480907
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,... ORPHA:71212
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... OMIM:608612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture, Agenesis of corpus callosum, Retinal degeneration OMIM:615249
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Hypothyroidism, Hypogonadism, Type ... ORPHA:412057
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Short stature, Accessory oral frenulum, Supernumerary tooth, Hydrometrocolpos, ... OMIM:617088
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Failure to thrive, Hypospadias, Diabetes mellitus... ORPHA:2315
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia... ORPHA:3157
Luscan-Lumish Syndrome
Mandibular prognathia, Aggressive behavior, Obesity, Polycystic ovaries, Overgrowth, Malar flatte... OMIM:616831
Angelman Syndrome
Mandibular prognathia, Optic disc pallor, Hyperactivity, Precocious puberty in females, Protrudin... ORPHA:72
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... ORPHA:3079
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... ORPHA:101330
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Retinal degeneration, Chorioretinal c... OMIM:610688
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of the retinal pigment ... ORPHA:1433
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger ORPHA:2928
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short stature, Cleft lip, Obesity, Cleft palate, Downturned corners of mouth, Everted lower lip v... OMIM:618089
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Thin upper lip vermilion, Obesity, Smooth philtrum OMIM:301013
Aceruloplasminemia
Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal pancreas morphology, Macular deg... ORPHA:48818
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal reproductive system morphology, Decreased liver function, Dysphagia, Failure to thrive, ... ORPHA:70472
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen... ORPHA:264580
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera... ORPHA:79264
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Diabetes ... ORPHA:93111
Perrault Syndrome 4
Obesity, Cleft palate, Hypoplasia of the uterus, Disproportionate tall stature, Bicornuate uterus... OMIM:615300
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Overweight, Atrophy of the spinal cord, Obesity, Lateral ventricle dilat... ORPHA:2822
Trisomy 18P
Facial palsy, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Thin vermilion border,... ORPHA:1715
Baralle-Macken Syndrome
Hirsutism, Obesity, Global brain atrophy OMIM:619255
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Decre... ORPHA:42
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Micrognathia, Carious teeth, ... OMIM:190350
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Aggressive behavior, Dental malocclusion, Attention deficit hyperactivi... OMIM:619149
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microretrognathia, Failure to thrive in infancy, Macular atrophy,... OMIM:619418
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Cockayne Syndrome
Congenital contracture, Retinal arteriolar constriction, Retinal degeneration, Hepatomegaly, Reti... ORPHA:191
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Obesity, Cerebral atrophy, Thin vermilion border, Long... ORPHA:171839
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Retinal dystrophy, Obesity, Cerebral atrophy ORPHA:464282
Muenke Syndrome
Malar flattening, High palate, Dental malocclusion OMIM:602849
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Fraser Syndrome 1
Encephalocele, Dental crowding, Hypospadias, Cleft upper lip, Cryptorchidism, Myelomeningocele, D... OMIM:219000
Hypotonia-Cystinuria Syndrome
Failure to thrive, Retrognathia, Polyphagia ORPHA:163690
Rabin-Pappas Syndrome
Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched eyebrow, ... OMIM:620155
Takenouchi-Kosaki Syndrome
Cerebellar atrophy, Thin upper lip vermilion, Inguinal hernia, Hypospadias, Cryptorchidism, Denta... OMIM:616737
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Sclerosteosis 1
Mandibular prognathia, Papilledema, Dental malocclusion, Optic atrophy, Facial palsy secondary to... OMIM:269500
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Ab... ORPHA:94065
Kabuki Syndrome 2
Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Dental mal... OMIM:300867
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Short stature, Cryptorchidism, Obesity, Oligodontia, Malar flattening, ... ORPHA:412035
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Manitoba Oculotrichoanal Syndrome
Vaginal atresia OMIM:248450
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hypothyroidism, Obesity, Cleft pa... ORPHA:254346
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Pancreatic fibrosi... OMIM:616263
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Rafiq Syndrome
Thin upper lip vermilion, Short stature, Obesity, Truncal obesity, Short philtrum, Malar flatteni... OMIM:614202
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
3-Methylglutaconic Aciduria, Type V
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... OMIM:610198
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Thick low... OMIM:300354
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Micropenis, Truncal obesi... OMIM:616541
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy, Obesity OMIM:612291
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Larsen-Like Syndrome
Malar flattening, Short stature, Dental malocclusion, Cleft palate OMIM:608545
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Short stature, Pierre-Robin sequence, Anterior open-bi... OMIM:617877
Essential Fructosuria
Hyperglycemia, Abnormality of glycolipid metabolism ORPHA:2056
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Kleine-Levin Syndrome
Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuali... ORPHA:33543
Smith-Magenis Syndrome
Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Failure to thrive in infan... ORPHA:819
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Hallermann-Streiff Syndrome
Natal tooth, Hyperactivity, Small for gestational age, Selective tooth agenesis, Spina bifida, Mi... OMIM:234100
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Decreased body weight, Diabetes me... OMIM:270450
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Narrow mouth, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Overgrowth, ... OMIM:620250
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Micrognathia, Obesity, Long philtrum, Smooth philtrum OMIM:618821
Noonan Syndrome 4
Short stature, Large for gestational age, Cryptorchidism, Dental malocclusion, Wide mouth, Thick ... OMIM:610733
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Insulin res... OMIM:619322
Immunodeficiency 61
Obesity, Recurrent sinusitis OMIM:300310
Cimdag Syndrome
Hepatomegaly, Retinal dystrophy, Lipodystrophy, Microvesicular hepatic steatosis, Cerebral atroph... OMIM:619273
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... ORPHA:508
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Martin-Probst Syndrome
Bifid scrotum, Short stature, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental mal... OMIM:300519
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Malan Overgrowth Syndrome
Optic disc pallor, Ventriculomegaly, Optic disc hypoplasia, Low posterior hairline, Lateral ventr... ORPHA:420179
Man1B1-Cdg
Thin upper lip vermilion, Truncal obesity, Thick vermilion border, Short philtrum, Eclabion, Mala... ORPHA:397941
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Cerebellar atrophy, Hypergonadotropic hypogonadism, Insulin-resist... OMIM:268020
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Obesity, Micrognathia ORPHA:96168
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Abnormal retinal morphology on macular OCT, Brain atr... ORPHA:251004
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Thick lower lip vermilion, Tented upper lip vermilion, Obesity OMIM:619854
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Pigmentary retinopathy, Late... OMIM:613154
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Lateral ventricle dilatation, Partial agenesis of the corpus... OMIM:619517
Bone Marrow Failure Syndrome 3
Hyperactivity, Retinal dystrophy, Micrognathia, Pancreatic steatosis, Cryptorchidism, Oral ulcer,... OMIM:617052
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Delayed eruption of perma... OMIM:619269
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito... ORPHA:97360
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Fle... OMIM:609069
Microtriplication 11Q24.1
Short stature, Obesity, Cleft palate, Irregularly spaced teeth, Short philtrum, Smooth philtrum ORPHA:289522
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Lipodystrophy, Micrognathia, Hyp... OMIM:209885
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of ... ORPHA:193
Shox-Related Short Stature
High palate, Obesity, Short stature, Micrognathia ORPHA:314795
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Short stature, Obesity OMIM:618124
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Hepatic steatosis, Cerebral atrophy OMIM:615918
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Downturned corners of mouth, Truncal obesity, Short philtrum, Smooth philtrum OMIM:613192
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Pigmentary retinopathy, Obesity, Generalized hirsutism ORPHA:110
Cockayne Syndrome B
Mandibular prognathia, Hepatomegaly, Reduced subcutaneous adipose tissue, Small for gestational a... OMIM:133540
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the philtrum, Short stature, Micrognathia, Cryptorchidism, Ob... ORPHA:3409
X-Linked Intellectual Disability, Stevenson Type
Microdontia, Tented upper lip vermilion, Obesity, Tall stature ORPHA:85325
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, Chorioretinal hyperpigmentation,... OMIM:618329
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decr... ORPHA:444490
Phelan-Mcdermid Syndrome
Micrognathia, Aggressive behavior, Tongue thrusting, Dental malocclusion, Bruxism, High palate, W... OMIM:606232
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large... OMIM:600501
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Gapo Syndrome
Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia ORPHA:2067
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Shor... OMIM:216550
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Hypoglycemic seizures, Down... OMIM:616364
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hydrocephalus, Cerebral atrophy, Retinal degeneration, Ventriculomegaly OMIM:272200
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Hypergonadotropic hypog... ORPHA:298
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Retinal detachment, Thick eyebrow, Hydrocephalus, Optic atrophy, C... OMIM:619833
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Dental crowding, Disproportionate tall stature, High palate, Failure to thrive, ... OMIM:236200
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi... ORPHA:3077
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... ORPHA:66634
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Pseudo... OMIM:612462
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Low anterior hairline, Lateral ventricle dilatation, Agenesis of corpus c... OMIM:618736
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Large for gestational age, Overgrowth, Aplasia/Hypoplasia of the optic ne... ORPHA:137634
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Complete Androgen Insensitivity Syndrome
Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating lutei... ORPHA:99429
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Small for gestational age, Optic atrophy, Contractures of the large joi... ORPHA:3078
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, External genital hypoplasia, Self-... ORPHA:3041
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Abnormal dental enamel morphology, Obesity, High palate, Malar flattening ORPHA:2180
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Smith-Magenis Syndrome
Retinal detachment, Synophrys, Increased body weight, Ventriculomegaly OMIM:182290
Hamamy Syndrome
Hypoparathyroidism, Thin upper lip vermilion, Inguinal hernia, Micrognathia, Cryptorchidism, Dent... OMIM:611174
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Joint contracture, Cerebral atrophy OMIM:618266
Placental Insufficiency
Insulin resistance, Small for gestational age, Small placenta ORPHA:439167
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Micrognathia, Adipose tissue loss, Insulin resistan... ORPHA:125
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Abnormal neuron morphology, Precocious puberty, Aggressive behavior,... ORPHA:163681
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... OMIM:619487
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,... OMIM:610253
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Increased body weight, Growth delay, Macrog... OMIM:614450
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Micrognathia, Flexion contracture, Obesity, High palate, Bruxism, Macroorchidism, M... OMIM:300055
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, High palate, Obesity, Short stature ORPHA:1035
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... OMIM:256810
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Malar flattening, Dental malocclusion, Micrognathia OMIM:608257
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Short stature, Obesity, Wide mouth, Widely spaced teeth OMIM:619056
Elsahy-Waters Syndrome
Bifid scrotum, Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hyposp... OMIM:211380
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Open bite, Splenomegaly, Micrognathia, Submucous cleft hard palate,... OMIM:115150
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology ORPHA:488635
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopath... OMIM:608629
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... OMIM:607626
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, ... ORPHA:439822
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration OMIM:239000
Whipple Disease
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Polydipsia, Hypothyroidism ORPHA:3452
Atypical Werner Syndrome
Micrognathia, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Retinal degeneration, A... ORPHA:79474
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypogl... OMIM:600649
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Gingival overgrowt... ORPHA:464288
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Xp22.13P22.2 Duplication Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High... ORPHA:284180
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Carpenter Syndrome 1
Omphalocele, External genital hypoplasia, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism... OMIM:201000
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Aceruloplasminemia
Diabetes mellitus, Retinal degeneration OMIM:604290
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... OMIM:613812
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Lateral ventricle dilatation, Cerebral cortical atrophy, Con... OMIM:607596
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Van Maldergem Syndrome 2
Bifid scrotum, Irregular dentition, Inguinal hernia, Tented upper lip vermilion, Hypospadias, Mic... OMIM:615546
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Hepatomegaly, Cerebellar atrophy, Inguinal hernia, Corpus callosum atrophy... OMIM:248500
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Micropenis, D... OMIM:156200
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Downturned corners of mou... ORPHA:261494
Radio-Tartaglia Syndrome
Thin upper lip vermilion, Dental crowding, Impulsivity, Micrognathia, Precocious puberty, High, n... OMIM:619312
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... OMIM:600430
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Hypospadias... ORPHA:353281
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max... OMIM:601390
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Spa... OMIM:619955
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus... OMIM:618975
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia ... OMIM:610829
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... OMIM:617093
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Downturned corners of mouth, Abnormal optic nerve morphology, Hypothyroidism... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Downturned corners of mouth, Abnormal optic nerve morphology, Hypothyroidism... ORPHA:352665
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... ORPHA:247585
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental crowding, Lipoatrophy, Decreased serum leptin, Micrognathia, Flexion co... OMIM:614008
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... OMIM:265000
Secondary Short Bowel Syndrome
Aganglionic megacolon, Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, ... ORPHA:95427
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Rod-cone dystrophy, Cerebral cortica... ORPHA:166035
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Colpocephal... OMIM:618651
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Robinow Syndrome, Autosomal Dominant 3
Short stature, Micrognathia, Cleft lip, Cryptorchidism, Dental malocclusion, Gingival overgrowth,... OMIM:616894
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Obesity, Wi... ORPHA:411511
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... ORPHA:2088
Distal Deletion 12Q
Micrognathia, High, narrow palate, Biliary atresia, Proportionate tall stature, Micropenis, Self-... ORPHA:96149
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Malar flattening, Aggressive behavior, Precocious puberty, Cleft lip,... OMIM:301066
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Pigmentary retinopathy, Diffuse he... ORPHA:746
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Micrognathia, Cryptorchidism, Dent... ORPHA:444072
Cebalid Syndrome
High palate, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Oligozoospermia OMIM:614813
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple, Truncal obesity, Cerebral cortical atrophy, Ventriculomegaly ORPHA:3224
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid ho... OMIM:103580
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... ORPHA:289548
Microphthalmia, Syndromic 2
Flexion contracture, Oligodontia, Fused teeth, Contracture of the proximal interphalangeal joint ... OMIM:300166
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Congenital Macroglossia
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Downturned corners of mouth, Lower-lim... ORPHA:99885
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip... OMIM:603457
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... ORPHA:1401
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Thin upper lip vermilion, Carious teeth, Obesity, High palate, Long philtrum, Smooth philtrum OMIM:620191
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, Am... ORPHA:168558
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
Cach Syndrome
Cerebellar atrophy, Flexion contracture, Optic atrophy, Cerebral atrophy, Lateral ventricle dilat... ORPHA:135
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Diabetes mellitus, Obesity, Hypothyroidism ORPHA:412
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycem... OMIM:175700
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... ORPHA:79303
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Aggressive behavior, Cryptorchidism, Deep philtrum, Obesity, Widely-spaced... ORPHA:404443
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation, Neurodegeneration OMIM:615889
Bangstad Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Re... OMIM:210740
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... OMIM:201475
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Colpocephaly, Brain atrophy, Failure to thrive, Agenesis of corpus callosum, Ventr... OMIM:620352
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressiv... ORPHA:85293
Werner Syndrome
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:277700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Obesity... OMIM:618430
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Decreased liver function, Glycosuria, Diffus... ORPHA:436271
White-Sutton Syndrome
Congenital diaphragmatic hernia, Downturned corners of mouth, Subcortical cerebral atrophy, High ... ORPHA:468678
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebellar atrophy, Hepatomegaly, Thin upper lip vermilion, Macrodontia, Micrognathia, Obesity, C... OMIM:618443
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Oliver Syndrome
Mandibular prognathia, Dental malocclusion, High palate, Short philtrum, Intrauterine growth reta... ORPHA:2920
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Joubert Syndrome 37
Short stature, Cryptorchidism, Obesity, High palate, Micropenis, Decreased testicular size OMIM:619185
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Chorioretinal coloboma OMIM:212550
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Brain... ORPHA:52430
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Schwartz-Jampel Syndrome
Micrognathia, High palate, Wrist flexion contracture, Long philtrum, Pursed lips, Supernumerary t... ORPHA:800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Micrognathia, Insulin resistance, Generalized lipodystrophy, Narrow... ORPHA:90154
Macrocephaly/Autism Syndrome
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth, High palate, ... OMIM:605309
Adams-Oliver Syndrome 2
Alopecia, Hydrocephalus, Optic atrophy, Low anterior hairline, Cerebral atrophy, Lateral ventricl... OMIM:614219
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Natal tooth, Failure to thrive, Paranasal sinus hypoplasia, Dental crowding, Facial ... OMIM:300373
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Po... ORPHA:65759
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Abnormal autonomic nervous system physiology, Hypothyroidism, Ha... ORPHA:83601
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Highly arched eyebrow, Synophrys, Obesity, Subcortical cerebral ... ORPHA:96147
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... OMIM:180849
Pearson Syndrome
Hypoparathyroidism, Hepatomegaly, Elevated hepatic transaminase, Median cleft lip and palate, Pan... ORPHA:699
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Very long chain fatty acid accumu... OMIM:261515
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Neonatal hypoglycemia, Large for gestational age, Congenital diaphragmatic... ORPHA:116
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Cerebral atrophy, Porta... OMIM:614300
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Faciocardiomelic Syndrome
Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Long philtrum, Hyperpla... OMIM:612731
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... OMIM:615219
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Tented upper lip vermilion, Small scrotum, External genital hypopl... OMIM:614231
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... ORPHA:541423
Cerebellofaciodental Syndrome
Short stature, Cryptorchidism, Dental malocclusion, Taurodontia, Macrodontia of permanent maxilla... OMIM:616202
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... ORPHA:228305
Androgen Insensitivity Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Blind vagina, Elevated circulati... OMIM:300068
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Gingival overgrowth, Hepatosple... OMIM:607014
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Interphalangeal joint contracture of finger,... OMIM:305620
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Failur... ORPHA:71
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Hypothyroi... OMIM:619013
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Micrognathia, Trismus, Flexion contracture, Cerebral atrophy, Hepatic steatos... OMIM:616271
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Na... OMIM:182212
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes... OMIM:300957
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy, Brain atrophy ORPHA:306669
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hyperglycemia, Axonal degeneration OMIM:604484
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Cleft soft palate, Optic nerve hypoplasia, Flexion contracture, Optic atrophy,... OMIM:619321
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, High palate, Obesity, Micrognathia OMIM:610543
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Thin upper lip vermilion, Hepatomegaly, Cerebellar atrophy, Hyperg... OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, High palate, Decreased liver function, Incre... OMIM:220110
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Localized Scleroderma
Fasciitis, Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facia... ORPHA:90289
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Cerebellar atrophy, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Hyposp... ORPHA:487796
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Lateral ventricle dilatation, Atrophy/Degenera... ORPHA:77299
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Stereotypical hand wringing, Dysph... OMIM:619229
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusti... ORPHA:98794
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy... ORPHA:168491
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypoglycemia, Carious teeth, Hypothyroidism, Delayed puberty, He... ORPHA:79259
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Pseudopseudohypoparathyroidism
Intrauterine growth retardation, Short stature, Obesity ORPHA:79445
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Au-Kline Syndrome
Failure to thrive, Supernumerary nipple, Cryptorchidism, Lipomyelomeningocele, Dental malocclusio... OMIM:616580
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Hypoautofluorescent retinal lesion, Sparse hair, High anterior ... OMIM:250410
Gitelman Syndrome
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Insulin resistance, Diabetic ketoacido... ORPHA:358
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Cerebellar atrophy, Hepatic steatosis, Cerebral atrophy, Hypothyro... ORPHA:445038
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Polydipsia, Decreased response to growth hormone stimulation test,... ORPHA:293987
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:79444
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Glucose... OMIM:219090
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... ORPHA:98908
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Adnp Syndrome
Thin upper lip vermilion, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Crypto... ORPHA:404448
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... ORPHA:2470
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Mucopolysaccharidosis Type 2
Abnormal repetitive mannerisms, Oppositional defiant disorder, Retinal degeneration, Hepatomegaly... ORPHA:580
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Hypothyroidism, Abnorma... ORPHA:1606
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... ORPHA:64
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Cerebellar atrophy, Hypoglycemia, Cholangitis, Microvesicular hepa... OMIM:124000
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Abnormal autonomic nervous system physiology, F... ORPHA:778
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Del... OMIM:232220
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, M... OMIM:615595
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Dental malocclusion, Short stature OMIM:259730
Desbuquois Dysplasia 1
Microretrognathia, Severe short stature, Narrow mouth, Obesity, Growth delay, Disproportionate sh... OMIM:251450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pa... OMIM:610199
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Cleft palate, Bi... OMIM:607361
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, H... ORPHA:1772
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... ORPHA:177907
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Orofacial cleft, Truncal obesi... ORPHA:127
Hajdu-Cheney Syndrome
Hypospadias, Short stature, Micrognathia, Absent frontal sinuses, Cryptorchidism, Dental malocclu... OMIM:102500
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Short phil... OMIM:301039
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Trichothiodystrophy
Sparse scalp hair, Brittle hair, Multiple joint contractures, Retinal degeneration, Partial agene... ORPHA:33364
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Retinopathy, Short stature, Retinal degeneration OMIM:252600
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Hip contracture, Optic atrophy, Obesity OMIM:618493
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Obesity ORPHA:93952
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... ORPHA:348
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Macular coloboma, Retinal degeneration, Atrophy of the spinal cord, Jaundice, Optic... ORPHA:79282
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Retinal pigment epithelial mottling, Lateral ventricle dilatation OMIM:614105
Turnpenny-Fry Syndrome
Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Dental crowding, Abnormality ... OMIM:618371
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Central nervous sys... ORPHA:98907
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Failure to thrive,... ORPHA:99901
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Growth delay, Vaginal stricture, Enamel hypoplasia ORPHA:79409
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Hyperactivity, Inguinal hernia, Abnormality of the denti... ORPHA:581
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Steinert Myotonic Dystrophy
Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Oral-pharyngea... ORPHA:273
Spondyloenchondrodysplasia
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Dental malocclu... ORPHA:1855
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micrognathia, Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture, K... OMIM:300868
Bohring-Opitz Syndrome
Bilateral cleft palate, Failure to thrive, Supernumerary nipple, Cleft upper lip, Micrognathia, F... OMIM:605039
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Micrognathia, Cryptorchidism, Obesity, Weight loss, Growth delay, Thi... ORPHA:251071
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Faciodigitogenital Syndrome, Autosomal Recessive
Proportionate short stature, Trismus, Deep philtrum, Cryptorchidism, Dental malocclusion, Narrow ... OMIM:227330
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Bilateral cryptorchidism, Obesity, Retinal vascular t... OMIM:619471
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Caudate atrophy, Cerebral atrophy, Lateral ventricle dila... OMIM:221770
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape, Hypospadias, Hypoglyce... ORPHA:17
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormality of the dentition, Insulin resistance, Flexion contracture, High palate, Breast aplasia ORPHA:90153
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Partial agenesis of the corpus callosum, Flexion contracture, Cerebral... ORPHA:79243
Sheehan Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating ... ORPHA:91355
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip,... OMIM:106260
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... ORPHA:64744
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Paroxysmal bu... OMIM:105830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Ventriculomegaly, Retinal atrophy, Optic nerve hypoplasia, Hydrocephalus, Opt... OMIM:236670
Weaver Syndrome
Mandibular prognathia, Inguinal hernia, Cryptorchidism, Hydrocele testis, Joint contracture of th... OMIM:277590
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Maternal Uniparental Disomy Of Chromosome 2
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Con... ORPHA:96179
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology ORPHA:2123
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... OMIM:208500
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Small scrotum, Small for gestational age, Slender... OMIM:613658
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone dystrophy, Intrahepatic bile duct ... OMIM:616307
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis ORPHA:977
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Nephronophthisis 11
Polydipsia, Hepatic fibrosis, Retinal degeneration OMIM:613550
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Williams Syndrome
Hypoplasia of penis, Micrognathia, Compulsive behaviors, Microdontia, Spina bifida occulta, Hypot... ORPHA:904
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Williams-Beuren Syndrome
Flexion contracture, Early onset of sexual maturation, Glucose intolerance, Microdontia, Micropen... OMIM:194050
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:79443
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Cryptorchidism, Ob... OMIM:616078
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp... ORPHA:478
Chanarin-Dorfman Syndrome
Hepatomegaly, Everted lower lip vermilion, Hepatic steatosis OMIM:275630
Sotos Syndrome
Mandibular prognathia, Neonatal hypoglycemia, Aggressive behavior, Cryptorchidism, High, narrow p... OMIM:117550
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Abnormal internal genitalia, Cleft upper lip, Anence... OMIM:612284
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Meningocele, Anencephaly, Cleft palate, Bile duct proliferation OMIM:603194
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Synophrys, Low anterior hairline, Hirsutism, Long eyelashes, Retinal ... OMIM:618479
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Obesity, Atrophy/Degeneration affecting the brainstem OMIM:616267
Fixed Drug Eruption
Vaginal mucosal ulceration, Stomatitis, Oral ulcer ORPHA:293812
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Inguinal hernia, Optic atrophy, Obesity OMIM:614947
Bloom Syndrome
Small for gestational age, Cryptorchidism, Agenesis of maxillary lateral incisor, Azoospermia, Ty... OMIM:210900
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Pancreatic hypoplasia, Exocrine... OMIM:615935
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... ORPHA:440713
2Q37 Microdeletion Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Obesity, Downturned corners of mouth, Thin... ORPHA:1001
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic hypotension, Hyperinsulinemia, Hypoglycemia ORPHA:230
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Hypoplastic sweat glands, Lo... ORPHA:73223
Chromosome 3Q29 Duplication Syndrome
Obesity, Low posterior hairline OMIM:611936
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... ORPHA:353277
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Ventriculomegaly, Decreased body weight ORPHA:589821
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... ORPHA:157850
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Chops Syndrome
Curly hair, Thick hair, Synophrys, Optic atrophy, Obesity, Coarse hair, Long eyelashes, Thick eye... OMIM:616368
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... OMIM:300972
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia, Decreased body weight OMIM:609053
Jacobsen Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Flexion contracture, Annular pancreas, Optic atrophy, ... OMIM:147791
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Inguinal hernia, Anterior pituitary hypoplasia, Imper... OMIM:181450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Small for gestational age, Short stature, Septate vagina, Bicornuate ut... OMIM:300707
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Tongue fasciculations, Decreased liver function, Hepatic steatosis, Cerebral cortic... OMIM:614922
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe... ORPHA:26793
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Cerebral cortical atrophy OMIM:617668
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus OMIM:146255
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Optic atrophy, Macroglossia, Chorioretinal hypop... OMIM:617303
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Cone/cone-rod dystrophy, Small f... ORPHA:404454
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Anorexi... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Microvesicular hepatic steatosis, Cerebral atrophy, Failure to thrive, Cerebr... OMIM:616672
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... OMIM:607485
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Knee flexion con... ORPHA:284417
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Fail... ORPHA:2089
Turner Syndrome Due To Structural X Chromosome Anomalies
Micrognathia, High, narrow palate, Glucose intolerance, Hepatic fibrosis, High palate, Hepatic st... ORPHA:99413
Mosaic Monosomy X
Micrognathia, High, narrow palate, Glucose intolerance, Hepatic fibrosis, High palate, Hepatic st... ORPHA:99228
Monosomy X
Micrognathia, High, narrow palate, Glucose intolerance, Hepatic fibrosis, High palate, Hepatic st... ORPHA:99226
Turner Syndrome
Micrognathia, High, narrow palate, Glucose intolerance, Hepatic fibrosis, High palate, Hepatic st... ORPHA:881
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thick lower lip vermilion, Obesity, Narrow mouth, Thick upper lip vermilion, Neonatal hypoglycemia OMIM:608624
Bohring-Opitz Syndrome
Retinal atrophy, Micrognathia, Cleft lip, Optic atrophy, Bilateral wrist flexion contracture, Cle... ORPHA:97297
Meckel Syndrome, Type 7
Inguinal hernia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatospl... OMIM:267010
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Dental crowding, Micrognathia, Micropenis... OMIM:270400
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Synophrys, Increased body weight ORPHA:589905
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, High, narrow palate, Short philtrum, High palate, Chorioretinal coloboma, Tics, Co... OMIM:619475
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia ORPHA:134
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Oligodontia, Clitoral hypoplasia, Chorioretinal coloboma, Spina ... OMIM:305600
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Corpus callosum atrophy, Cerebral atrophy... ORPHA:565624
Hutchinson-Gilford Progeria Syndrome
Short lingual frenulum, Dental crowding, Micrognathia, High palate, Persistence of primary teeth,... ORPHA:740
Knobloch Syndrome
Retinal detachment, Abnormal hair morphology, Hydrocephalus, Abnormal vitreous humor morphology, ... ORPHA:1571
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Monosomy 22Q13.3
Hyperactivity, Dental crowding, Hair-pulling, Dental malocclusion, Obesity, Bruxism, Umbilical he... ORPHA:48652
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Synophrys, Cerebral atrophy, Colpocephaly, Congenital contracture, Agenesis of cor... OMIM:620156
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Wide penis, Downtur... ORPHA:3455
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Lateral ventricle dilatation, Facial palsy OMIM:256850
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98855
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Bile duct proliferation OMIM:611561
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Coffin-Lowry Syndrome
Mandibular prognathia, Short stature, Thick lower lip vermilion, Dental malocclusion, Narrow pala... OMIM:303600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Camptobrachydactyly
Septate vagina OMIM:114150
Meckel Syndrome
Accessory spleen, Encephalocele, True hermaphroditism, Pancreatic fibrosis, Aplasia/Hypoplasia of... ORPHA:564
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Carpenter Syndrome 2
Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, High, narrow palate, Carious teet... OMIM:614976
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Failure to thrive, Retinal atrophy, Abnormal retinal morphology, Micrognathia, Pers... ORPHA:2785
Arima Syndrome
Hepatomegaly, Retinal dystrophy, Optic atrophy, Wide mouth, Hepatic fibrosis, Cirrhosis, Choriore... OMIM:243910
Glutamine Deficiency, Congenital
Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Brain atrophy, Camptodactyly OMIM:610015
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholangitis, Micrognathia, Macular degeneration, Hepatic fibrosis, Widely spaced teeth, High pala... OMIM:266920
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic hypoplasia,... OMIM:137920
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Ventriculomegaly ORPHA:261197
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Retinal dysplasia, Cleft palate, Micrognathia ORPHA:1190
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Cerebral atrophy, Abnormal fundus morphology, Macula... ORPHA:94147
Camptobrachydactyly
Septate vagina ORPHA:1319
Mckusick-Kaufman Syndrome
Short stature, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Cleft palate, High palate... ORPHA:2473
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, Obesity, Downturned c... OMIM:619680
Ulnar-Mammary Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Obesity, Breast aplasia, Hypodontia... ORPHA:3138
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98863
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:369840
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98853
Craniosynostosis 6
Cerebellar atrophy, Low anterior hairline, Lateral ventricle dilatation, Agenesis of corpus callo... OMIM:616602
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular a... ORPHA:79240
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mouth, Gro... OMIM:249420
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Retinal atrophy, Retinal dystroph... ORPHA:90324
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Failure to thrive, Abnormal dental morphology, Micrognathia, Aggressiv... ORPHA:369950
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Cerebellar atrophy, Limb joint contracture, Splenomegaly... OMIM:301072
22Q11.2 Deletion Syndrome
Micrognathia, Hypoplasia of the thymus, Short philtrum, Abnormality of the uterus, Hypothyroidism... ORPHA:567
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, male, Decreased serum estradiol, Decreased circula... ORPHA:90796
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,... OMIM:617156
Pmm2-Cdg
Mandibular prognathia, Multiple joint contractures, Elevated circulating thyroid-stimulating horm... ORPHA:79318
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Cerebral atrophy, Subcortical c... ORPHA:261265
Joubert Syndrome 39
Overweight, Retinal dystrophy, Joint contracture of the 5th finger OMIM:619562
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Failure to thrive, Retinal dystrophy, Supernumerary nipple, Subretinal deposits... ORPHA:397715
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Liver Disease, Severe Congenital
Micrognathia, Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Hypo... ORPHA:556955
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Corpus callosum atrophy, Low anterior hairline, Cerebral at... OMIM:619244
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Cheilitis, Hepatitis, Abnormal lip morphology, Abnormal vagina... ORPHA:1334
Desbuquois Dysplasia 2
Severe short stature, Dental crowding, Postnatal growth retardation, Cleft palate, Truncal obesit... OMIM:615777
Keppen-Lubinsky Syndrome
Tented upper lip vermilion, Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia... OMIM:614098
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Small for gestational age, Abnormal denta... ORPHA:666
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Crypto... OMIM:268400
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Farber Disease
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... ORPHA:333
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Exaggerated... OMIM:312870
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Rod-cone dystro... ORPHA:14
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Disproportionate short stature, Tooth agenesis, Truncal obesity, Microdontia,... ORPHA:2637
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, High, narrow palate, Hepatic calcification, Hepatic failure, Hepatic steatosis, Hyp... ORPHA:228308
Mirizzi Syndrome
Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelit... ORPHA:521219
Say-Barber-Miller Syndrome
Micrognathia, Carious teeth, Cryptorchidism, Optic atrophy, Elbow flexion contracture, Knee flexi... ORPHA:3132
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Hypoplasia of the retina, Retina... OMIM:253280
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive OMIM:615453
Kabuki Syndrome
Hypoplasia of penis, Abnormal dental morphology, Hypospadias, Lip pit, Abnormality of the dentiti... ORPHA:2322
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Papilledema, Dental crowding, Short stature, Hy... OMIM:614188
Khan-Khan-Katsanis Syndrome
Highly arched eyebrow, Trichiasis, Corneal scarring, Pigmentary retinopathy, Colpocephaly, Joint ... OMIM:618460
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Multiple joint contractures, Flexion contracture, Lateral ventricle dilatation, Arthrogryposis mu... OMIM:618291
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Meningioma
Enlarged pituitary gland, Papilledema, Decreased circulating cortisol level, Hypogonadotropic hyp... ORPHA:2495
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr... OMIM:210720
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, High palate, Hypothyroidism, Self-mutilation, Bifid uvula, Oppositional defiant ... OMIM:607872
Johanson-Blizzard Syndrome
Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary teeth, Micropenis, Hypot... OMIM:243800
Fryns Syndrome
Microretrognathia, Bifid scrotum, Omphalocele, Tented upper lip vermilion, Ectopic pancreatic tis... OMIM:229850
3Q29 Microduplication Syndrome
Abnormality of the dentition, Deep philtrum, Obesity, Cleft palate, High palate ORPHA:251038
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Short stature OMIM:619318
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... OMIM:619503
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairline, Nail dystrophy, Hi... OMIM:300860
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Cleft palate, Bile duct proliferation OMIM:611134
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Intra-oral hyperpigmentation, Flexion ... OMIM:619127
Microcephalic Primordial Dwarfism, Dauber Type
Severe intrauterine growth retardation, Severe postnatal growth retardation, Short stature, Obesity ORPHA:319675
Pontocerebellar Hypoplasia, Type 13
Low posterior hairline, Lateral ventricle dilatation, Long eyelashes, Failure to thrive, Dandy-Wa... OMIM:618606
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia OMIM:615812
Xylt1-Cdg
Short stature, Cleft palate, Growth delay, Truncal obesity, Thick vermilion border, Long philtrum ORPHA:370930
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Nail-biting, Small scrotum, Optic nerve hypoplas... OMIM:620330
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia,... OMIM:249000
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, Colpocephaly, Ventriculomegaly ORPHA:261250
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit... ORPHA:731
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula OMIM:601552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Short stature, Carious teeth, Cryptorchidism, Downturned corners of mouth, Hydrocele... OMIM:619522
Waardenburg Syndrome, Type 1
Mandibular prognathia, Spina bifida, Myelomeningocele, Orofacial cleft, Aplasia of the vagina, Hy... OMIM:193500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Ogden Syndrome
Maternal diabetes, Micrognathia, Microvesicular hepatic steatosis, Deep philtrum, Short philtrum,... OMIM:300855
Necrotizing Enterocolitis
Peritonitis, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Short philtrum, High palate, Hepatoblastoma, Micropenis... ORPHA:798
Slc35A2-Cdg
Cerebellar atrophy, Failure to thrive in infancy, Limb joint contracture, Camptodactyly of finger... ORPHA:356961
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Cerebellar atrophy, Tented upper lip vermilion, Exaggerated cupid's bow, Micr... ORPHA:369837
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pach... ORPHA:3310
Holoprosencephaly 5
Hydrocephalus, Lateral ventricle dilatation, Synophrys OMIM:609637
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Diffuse cerebral atrophy, Inguinal hernia, Micrognathia, Biliary... ORPHA:83617
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Cholangitis, Micrognathia, Splenome... OMIM:613610
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... OMIM:600001
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Tall stature, Hypospadias, Micrognathia, Cryptorchidism, Cleft lip, Optic atrophy, Furrowed tongu... OMIM:616975
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets ORPHA:681
Adiposis Dolorosa
Sparse pubic hair, Obesity, Sparse axillary hair ORPHA:36397
Noonan Syndrome 1
Hypospadias, Failure to thrive in infancy, Short stature, Micrognathia, Postnatal growth retardat... OMIM:163950
Achondroplasia
Hydrocephalus, Obesity ORPHA:15
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Failure to thrive, Small for gestational age, Optic nerve dysplasia, Optic at... OMIM:614866
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Cleft palate, Knee flexion contracture, Downturned corners of... ORPHA:488642
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Enlarged la... ORPHA:449432
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Addictive alcohol use, Hyperglycemia ORPHA:90065
Waardenburg Syndrome
Myelomeningocele, Orofacial cleft, Abnormal lip morphology, Abnormality of the uterus, Abnormal v... ORPHA:3440
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Orofaciodigital Syndrome I
Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Hamartoma of tongue, Cleft up... OMIM:311200
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... ORPHA:247234
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Micrognathia, Septate vagina, Cleft lip, Uterus didelphys, Clef... OMIM:617925
Aneurysm-Osteoarthritis Syndrome
Dental malocclusion, Cleft palate, Disproportionate tall stature, Umbilical hernia, High palate, ... ORPHA:284984
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Cerebellar... OMIM:203700
Metaphyseal Chondrodysplasia, Schmid Type
Disproportionate short-limb short stature, Obesity ORPHA:174
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Retinal dystrophy, Hamartoma of tongue, Cleft palate, Micr... OMIM:263520
Monosomy 9Q22.3
Ventriculomegaly, Large for gestational age, Hydrocephalus, Umbilical hernia, Retinopathy, Tall s... ORPHA:77301
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Synophrys, Lateral ventricle dilatation, Sparse hair, Parietal cortic... OMIM:620075
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... OMIM:229600
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Highly arched eyebrow, Synophrys, Lateral ventricle dilatation, Umbilic... OMIM:617751
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Aicardi Syndrome
Retinal detachment, Hiatus hernia, Chorioretinal lacunae, Partial agenesis of the corpus callosum... OMIM:304050
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... OMIM:618500
Generalized Pustular Psoriasis
Overweight, Cheilitis, Geographic tongue, Obesity ORPHA:247353
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity ORPHA:86816
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Optic atrophy, Phonic tics, Pigmentary retinopathy, Obsessive-compulsi... OMIM:234200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short stature, Obesity OMIM:618395
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Small scrotum, Micrognathia, Widely-spaced maxillary central incisors... OMIM:309580
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Inguinal hernia, Sparse eyelashes, Sparse scalp hair, Large for gestati... ORPHA:544488
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Small for gestational age, Sparse eyebrow, Lateral v... OMIM:619869
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Elevated hepatic transaminase, Micrognathia, Cryptorchidism, Pica, Ovarian... OMIM:614527
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Elbow contracture, Knee flexion contracture, High p... OMIM:618162
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebral atrophy, Lateral ventricle dilatation, Rod... ORPHA:572798
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Feingold Syndrome
Abnormality of the spleen, Annular pancreas, Orofacial cleft, Micrognathia ORPHA:1305
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Intellectual Developmental Disorder, Autosomal Dominant 68
Wide mouth, High palate, Joint contracture of the 5th finger, Attention deficit hyperactivity dis... OMIM:619934
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Cerebral ... ORPHA:488627
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreatic insuff... OMIM:617941
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Obesity, Increased circulating renin level, Cholecys... ORPHA:90041
Primrose Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contractur... OMIM:259050
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnormal ductus chole... ORPHA:436252
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Agenesis of... OMIM:309801
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age OMIM:619278
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Supernumerary nipple, Cryptorchidism, Obesity, High palate, Micropenis, Abnormal... OMIM:618653
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, High, nar... OMIM:613406
Diamond-Blackfan Anemia 21
Narrow mouth, Short stature, Obesity, Micrognathia OMIM:620072
Weiss-Kruszka Syndrome
Highly arched eyebrow, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
1P21.3 Microdeletion Syndrome
Aggressive behavior, Micrognathia, Abnormal eating behavior, Obesity, Wide mouth, Self-injurious ... ORPHA:293948
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Dysphagia, Polydipsia, Abnorma... ORPHA:537
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Small for gestational age, Short stature, Hypopl... OMIM:139210
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Aggressive behavior, Obesity, Wide mouth, Truncal obesity, Branchial an... ORPHA:466950
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Compulsive behaviors, Abnormal temper tantrums, Recurrent h... ORPHA:3008
X-Linked Intellectual Disability, Wilson Type
Abnormal position of hair whorl, Lateral ventricle dilatation, Inguinal hernia ORPHA:85290
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypospadias, Small for gestational age, Hypoglycemia, Micrognathia, Microvesicul... OMIM:220111
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Adrenal calcifi... ORPHA:275761
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Absence of Stensen duct, Decreased response to growth hormone stimulation test, ... OMIM:129900
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Small for gestational age, Cerebral atrophy OMIM:619847
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Conge... ORPHA:2255
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Cleft palate, Micropenis, Thin vermilion border, Apl... ORPHA:264450
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia OMIM:200995
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Colpocephaly, Failure to thrive, Highly arched eyebrow OMIM:620083
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Cog5-Cdg
Cerebellar atrophy, Diffuse cerebral atrophy, Camptodactyly of finger, Abnormality of the frontal... ORPHA:263487
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation OMIM:612301
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Dental crowding, Short stature, Optic disc coloboma, Obesity, Thin vermilion b... OMIM:617157
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Stillbirth, Neonatal... OMIM:608978
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Obesity, Wide mouth, Rectovaginal fistula, ... OMIM:619426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Cerebral atrophy, Hepatic steatosis OMIM:615356
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology ORPHA:37202
Pancreas, Annular
Annular pancreas OMIM:167750
Annular Pancreas
Annular pancreas ORPHA:675
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Hypospadias, Decreased response to growth hormone stimulation test, Mic... ORPHA:444077
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Failure to thrive, Pancreatic fibrosis OMIM:615503
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Inguinal hernia, Optic nerve hypoplasia, Aplasia of the vagina, Aplasia of the ute... ORPHA:457284
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Failure to thrive in infancy, Cerebral atrophy, Lateral ventricle dilatation,... OMIM:611209
Loeys-Dietz Syndrome 3
Inguinal hernia, Cystocele, Dental malocclusion, Cleft palate, Disproportionate tall stature, Atr... OMIM:613795
Adams-Oliver Syndrome 1
Encephalocele, Supernumerary nipple, Cleft upper lip, Cleft palate, Imperforate hymen OMIM:100300
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, No... ORPHA:300570
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Median cleft lip, Abnormal dental enamel morphology, Accessory ora... ORPHA:2750
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint contrac... OMIM:618914
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Cerebral atrophy, Weig... OMIM:615846
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Aganglionic megacolon ORPHA:210122
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:619573
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Tall stature, Large for gestational age, Sparse ... OMIM:617011
17Q24.2 Microdeletion Syndrome
Thin upper lip vermilion, Failure to thrive in infancy, Decreased response to growth hormone stim... ORPHA:529962
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia ... OMIM:261540
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Large for gestational age, Overgrowth, Retinal coloboma, Tall stature OMIM:617107
Jacobsen Syndrome
Inguinal hernia, Spina bifida, Cryptorchidism, Cerebral atrophy, Abnormal palate morphology, Atte... ORPHA:2308
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Cole Disease
Hyperglycemia OMIM:615522
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Aggressive behavior, Obesity, Downturned corners of mouth, Wide mouth, ... ORPHA:466943
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Partial agenesis of the corpus callosum, Synophrys, Colpocephaly, ... OMIM:620113
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis, Attention ... OMIM:227646
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Bainbridge-Ropers Syndrome
Thick eyebrow, Highly arched eyebrow, Supernumerary nipple, Synophrys, Contracture of the proxima... OMIM:615485
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Bifid scrotum, Dental crowding, Asplenia, Cleft hard palate, Flexion contr... ORPHA:261537
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
6Q Terminal Deletion Syndrome
Hypospadias, Micrognathia, Phimosis, High, narrow palate, Obesity, Thick vermilion border, Failur... ORPHA:75857
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... ORPHA:247598
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth, ... ORPHA:199
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Glutaric Acidemia I
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation OMIM:231670
Dend Syndrome
Downturned corners of mouth, Hyperglycemia, Long philtrum ORPHA:79134
Mowat-Wilson Syndrome
Mandibular prognathia, Bifid scrotum, Dental crowding, Asplenia, Cleft hard palate, Flexion contr... ORPHA:2152
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Brai... OMIM:618278
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Bifid scrotum, Dental crowding, Asplenia, Cleft hard palate, Flexion contr... ORPHA:261552
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Hydrolethalus Syndrome 1
Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Anencephaly, Cleft palate, Stillbirth,... OMIM:236680
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Inguinal hernia, Sparse eyebrow, Cerebral atrophy, Lateral ventricle dilatatio... ORPHA:464738
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Colpocephaly OMIM:301043
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Disproportionate short-limb short stature, Obesity OMIM:250420
Feingold Syndrome 1
Accessory spleen, Micrognathia, Asplenia, High palate, Thick vermilion border, Polysplenia, Evert... OMIM:164280
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive OMIM:619575
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Hypospadias, Micrognathia, Asplenia, Cleft lip, Cleft palate, Bicornuate uterus, Ann... OMIM:265380
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Inguinal hernia, Anterior pituitary hypoplasia, Portal hypertension, Elevated circu... OMIM:619534
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Thin upper lip vermilion, Mild postnatal growth retardation, Micrognathia,... OMIM:150230
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Thick lower lip vermilion, Truncal... OMIM:612474
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis OMIM:222700
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Short ... ORPHA:857
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Scorpion Envenomation
Restlessness, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:466677
Primary Sjögren Syndrome
Chronic active hepatitis, Abnormality of the peripheral nervous system, Biliary cirrhosis, Thyroi... ORPHA:289390
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Congenital Disorder Of Glycosylation, Type Iim
Cerebral atrophy, Lateral ventricle dilatation, Enamel hypoplasia, Rod-cone dystrophy, Thick eyebrow OMIM:300896
Pallister-Killian Syndrome
Tented upper lip vermilion, Small scrotum, Congenital diaphragmatic hernia, Micrognathia, Flexion... OMIM:601803
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Anorexia, Phimosis, Flexion contracture, Weight loss, D... ORPHA:99921
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Ventriculomegaly, Failure to thrive in infancy, Optic nerve hypoplasia, Sparse eyebro... ORPHA:500150
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Flexion contracture, Ventriculomegaly, Hypertrichosis OMIM:619479
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Supernumerary nipple, Sparse eyebrow, Synophrys, Colpocephaly, High anterior h... ORPHA:477993
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Abnormal penis morphology, Anorexia, Oral mucosal blisters, Oral-p... ORPHA:95455
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Lateral ventricle dilatatio... OMIM:181270
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledochus, Unilateral facial palsy, T... OMIM:619480
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Thin upper lip vermilion, Abnormality of the dentition, Cyst of the ductus choledochus, Abnormal ... ORPHA:480880
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:618820
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Thick eyebrow OMIM:618367
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca ORPHA:1112
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Hellp Syndrome
Increased body weight ORPHA:244242
Choreoacanthocytosis
Caudate atrophy, Weight loss, Lateral ventricle dilatation, Abnormal autonomic nervous system phy... ORPHA:2388
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Optic neuropathy ORPHA:391665
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Knee flexion contracture, Colpocephaly, Agenesis of corpus ca... OMIM:606170

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 Lztfl1

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 Lztfl1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Leucine zipper transcription factor-like 1 (LZTFL1), an intraflagellar transporter protein 27 (IFT27) associated protein, is required for normal sperm function and male fertility. Developmental biology (May 2021) Lztfl1tm1e(KOMP)Wtsi 34023333
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells (April 2020) Lztfl1tm1e(KOMP)Wtsi 32290105
The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors. The Journal of biological chemistry (November 2019) Lztfl1tm1e(KOMP)Wtsi 31694913
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America (July 2015) Lztfl1tm1e(KOMP)Wtsi PMC4538681

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lztfl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lztfl1tm112917(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Lztfl1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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