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Gene: Zc3h11a MGI:1917829

Gene Summary

Name:

zinc finger CCCH type containing 11A

Synonyms:

1110003F06Rik, G630041M05Rik, 5730454B08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
microcephaly	Zc3h11a^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Zc3h11a^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Zc3h11a^em1(IMPC)Mbp	HET	Late adult	0.00
increased circulating alanine transaminase level	Zc3h11a^em1(IMPC)Mbp	HET	Early adult	1.01×10^-06
decreased erythrocyte cell number	Zc3h11a^em1(IMPC)Mbp	HET	Early adult	9.38×10^-06
abnormal vitreous body morphology	Zc3h11a^em1(IMPC)Mbp	HET	Early adult	7.12×10^-05
abnormal heart shape	Zc3h11a^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal coat/hair pigmentation	Zc3h11a^em1(IMPC)Mbp	HET	Middle aged adult	1.62×10^-07
prenatal lethality prior to heart atrial septation	Zc3h11a^em1(IMPC)Mbp	HOM	E15.5	0.00
cataract	Zc3h11a^em1(IMPC)Mbp	HET	Late adult	3.35×10^-05
syndactyly	Zc3h11a^em1(IMPC)Mbp	HET	E15.5	0.00
hemorrhage	Zc3h11a^em1(IMPC)Mbp	HET	E15.5	0.00
spina bifida	Zc3h11a^em1(IMPC)Mbp	HET	E15.5	0.00
anophthalmia	Zc3h11a^em1(IMPC)Mbp	HET	E15.5	0.00
decreased hematocrit	Zc3h11a^em1(IMPC)Mbp	HET	Early adult	3.81×10^-05
decreased hemoglobin content	Zc3h11a^em1(IMPC)Mbp	HET	Early adult	1.23×10^-05
microphthalmia	Zc3h11a^em1(IMPC)Mbp	HET	E15.5	0.00
polydactyly	Zc3h11a^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal coat/hair pigmentation	Zc3h11a^em1(IMPC)Mbp	HET	Late adult	8.25×10^-06
abnormal thymus morphology	Zc3h11a^em1(IMPC)Mbp	HET	Late adult	0.00
embryonic lethality prior to organogenesis	Zc3h11a^em1(IMPC)Mbp	HOM	E9.5	0.00

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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.

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XRay Images Whole Body Lateral Orientation

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XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Zc3h11a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Zc3h11a (0 diseases)
Human diseases predicted to be associated with Zc3h11a (1186 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zc3h11a by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Gombo Syndrome	Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly	OMIM:233270
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty...	OMIM:615938
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph...	ORPHA:3246
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Spinal Muscular Atrophy With Mental Retardation	Microcephaly, Syndactyly	OMIM:271109
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met...	OMIM:174200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Uncombable Hair Syndrome 2	Juvenile cataract, Uncombable hair, Pili canaliculi	OMIM:617251
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy...	ORPHA:64754
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia	OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microcephaly, Microphthalmia	OMIM:616335
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Abnormal heart morpholo...	ORPHA:1067
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	OMIM:112600
Microphthalmia, Isolated 4	Postaxial polydactyly, Microphthalmia	OMIM:613094
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ...	OMIM:613885
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Microcephaly, 2-4 toe syndactyly, Syndactyly	OMIM:241000
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi...	ORPHA:957
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hypertrophic cardiomyopathy	ORPHA:79281
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mmep Syndrome	Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot	ORPHA:3434
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Congenital Varicella Syndrome	Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia	ORPHA:291
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ...	OMIM:600384
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla...	OMIM:616570
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit...	OMIM:164180
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Acalvaria	Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of...	ORPHA:945
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th...	OMIM:102510
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Abnormality of skin pigmentation	OMIM:300719
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi...	OMIM:615771
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Frontal Encephalocele	Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla...	ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the...	OMIM:211960
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Anencephaly 2	Anencephaly, Anophthalmia	OMIM:619452
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,...	ORPHA:139471
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Crossed Polysyndactyly	Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb	ORPHA:2935
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Generalized hyperpigmentation	ORPHA:2253
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g...	OMIM:206920
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli...	OMIM:610140
Humero-Radial Synostosis	Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc...	ORPHA:3265
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Microcephaly-Cardiomyopathy	Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap	OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi...	ORPHA:93323
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Adams-Oliver Syndrome 4	Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes...	OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali...	ORPHA:3268
Craniotelencephalic Dysplasia	Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ...	ORPHA:1528
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis	OMIM:213010
Greig Cephalopolysyndactyly Syndrome	Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha...	ORPHA:380
White Forelock With Malformations	White forelock, Atrial septal defect, Poliosis	OMIM:277740
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger	ORPHA:238446
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Aphalangy-Syndactyly-Microcephaly Syndrome	Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t...	ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly	ORPHA:294975
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly	OMIM:610023
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Fanconi Anemia, Complementation Group G	Microcephaly, Abnormal thumb morphology, Microphthalmia	OMIM:614082
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism	OMIM:274205
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn...	OMIM:183600
Meckel Syndrome, Type 2	Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ...	OMIM:603194
Joubert Syndrome 22	Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly...	OMIM:615665
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro...	OMIM:611134
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Microphthalmia	ORPHA:141333
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l...	OMIM:611561
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse...	OMIM:218670
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Seckel Syndrome 2	Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ...	OMIM:606744
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Anophthalmia Plus Syndrome	Deviation of finger, Anophthalmia, Spina bifida	ORPHA:1104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort...	OMIM:613155
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc...	ORPHA:2839
Uncombable Hair Syndrome 3	Curly hair, Uncombable hair, Pili canaliculi, Brittle hair	OMIM:617252
Lissencephaly 8	Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ...	OMIM:617255
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr...	OMIM:602501
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Griscelli Syndrome, Type 2	Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ...	OMIM:607624
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va...	ORPHA:166024
Genetic Hyperferritinemia Without Iron Overload	Cataract, Fragile nails	ORPHA:254704
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Feingold Syndrome Type 2	Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly	ORPHA:391646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,...	ORPHA:2189
Septooptic Dysplasia	Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call...	OMIM:182230
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Schisis Association	Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida	ORPHA:63862
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
2Q24 Microdeletion Syndrome	Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi...	ORPHA:1617
Bardet-Biedl Syndrome 22	Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly	OMIM:617119
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Camptodactyly Syndrome, Guadalajara Type 1	Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,...	ORPHA:1327
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Monilethrix	Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,...	OMIM:616171
Czeizel-Losonci Syndrome	Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact...	ORPHA:2437
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia	OMIM:614830
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Curry-Jones Syndrome	Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A...	ORPHA:1553
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Iri...	OMIM:601706
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe...	ORPHA:93409
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Xk Aprosencephaly Syndrome	Microcephaly, Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Hartsfield Syndrome	Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad...	ORPHA:2117
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Temtamy Syndrome	Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H...	ORPHA:1777
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp...	OMIM:300863
Frontonasal Dysplasia 1	Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po...	OMIM:136760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly	ORPHA:324416
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi...	ORPHA:1120
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Microphthalmia	OMIM:278780
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s...	ORPHA:1908
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu...	OMIM:175700
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t...	ORPHA:370010
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Microphthalmia, Syndromic 8	Microcephaly, Microphthalmia, Split foot	OMIM:601349
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Braddock-Carey Syndrome 2	Microcephaly, Microphthalmia, Clinodactyly	OMIM:619981
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ...	OMIM:225280
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Nanophthalmos	Microphthalmia	ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum	OMIM:274270
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Microphthalmia	ORPHA:2528
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele	OMIM:615397
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Walker-Warburg Syndrome	Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal...	ORPHA:899
Cofs Syndrome	Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Camptodactyly of...	ORPHA:1466
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
17Q12 Microduplication Syndrome	Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly	ORPHA:261272
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Hypomelanosis Of Ito	Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda...	OMIM:300337
Pelvis-Shoulder Dysplasia	Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho...	OMIM:169550
Trisomy 1Q	Macrocephaly, Anophthalmia, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyl...	ORPHA:261344
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Adams-Oliver Syndrome 3	Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ...	OMIM:614814
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted...	OMIM:618447
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Linear Skin Defects With Multiple Congenital Anomalies 2	Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M...	OMIM:300887
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Intellectual Developmental Disorder, Autosomal Dominant 72	Microcephaly, Broad palm, Macrocephaly, Spina bifida	OMIM:620439
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease	OMIM:600251
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Corneal opacity, Atrichia, Decreased tes...	ORPHA:1867
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ...	ORPHA:1106
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum	ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa...	OMIM:619091
Fountain Syndrome	Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Co...	ORPHA:3219
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Warburg Micro Syndrome 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia...	OMIM:600118
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Absent thumb	OMIM:617244
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:615877
Curry-Jones Syndrome	Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim...	OMIM:601707
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Aminopterin Syndrome Sine Aminopterin	Megalencephaly, Macrocephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of ...	OMIM:600325
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia	OMIM:619582
Solitary Median Maxillary Central Incisor	Microcephaly, Microphthalmia, Holoprosencephaly, Anophthalmia	OMIM:147250
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cerebellar ...	OMIM:251270
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp...	OMIM:616038
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp...	OMIM:615181
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly	DECIPHER:46
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po...	OMIM:607361
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Chiari Malformation Type Ii	Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co...	OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ...	ORPHA:163966
Pierpont Syndrome	Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip...	ORPHA:487825
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep...	OMIM:603387
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Cerebral hemorrhage, Synda...	OMIM:300049
Microphthalmia, Syndromic 13	Microcephaly, Microphthalmia	OMIM:300915
Trisomy 13	Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact...	ORPHA:3378
Joubert Syndrome 16	Polydactyly, Dandy-Walker malformation, Encephalocele	OMIM:614465
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Hyperpigmentation of...	OMIM:129500
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Thin corpus callosum, Cubitus valgus, Camptodactyly, Microcephaly, Down-sloping s...	OMIM:619694
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas...	OMIM:613153
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Moebius Syndrome	Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C...	OMIM:157900
Summitt Syndrome	Short 4th metacarpal, Macrocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3210
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Adams-Oliver Syndrome 2	Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ...	OMIM:614219
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia	ORPHA:66625
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Cataract, Atrial septal defect, Ventricular septal defect, Low anterior hairline	OMIM:608227
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Pierpont Syndrome	Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Microcephaly, Short p...	OMIM:602342
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger	ORPHA:376
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o...	ORPHA:93267
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Joint contracture of the 5th finge...	OMIM:618914
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Hydrocephalus, Elbow flexion contracture, Short foot, Spina bifida, ...	OMIM:613776
Nail-Patella Syndrome	Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi...	OMIM:161200
Nephronophthisis 15	Cerebellar vermis hypoplasia, Polydactyly	OMIM:614845
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy	ORPHA:1369
Beta-Thalassemia	Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic...	ORPHA:848
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Grange Syndrome	Short palm, Hypertension, Aortic regurgitation, Syndactyly	ORPHA:79094
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ...	OMIM:610758
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Hypoplast...	ORPHA:2092
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Tapered finger, Epiphy...	OMIM:607131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Lissencephaly, Hydrocephalus, Progressive microcephaly, T...	OMIM:615249
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology, Anophthalmia, Abnorma...	ORPHA:2538
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormality of the hand, Microph...	ORPHA:508498
Mosaic Trisomy 9	Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Dandy-Walker malform...	ORPHA:99776
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Agenesis...	OMIM:614815
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio...	ORPHA:564
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calc...	OMIM:109400
Monosomy 5P	Microcephaly, Finger syndactyly, Small hand	ORPHA:281
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Sclerosteosis	Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ...	ORPHA:3152
Cerebrooculonasal Syndrome	Hypoplasia of the corpus callosum, Macrocephaly, Encephalocele, Anophthalmia, Cerebellar vermis h...	OMIM:605627
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Hypoplasia of the corpus callosum, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the pha...	OMIM:617102
Caudal Duplication	Spinal cord lesion, Myelomeningocele, Spina bifida	ORPHA:1756
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br...	OMIM:113000
Adams-Oliver Syndrome	Periventricular leukomalacia, Gastrointestinal hemorrhage, Microphthalmia, Abnormal metacarpal mo...	ORPHA:974
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Postaxial hand polydactyly, Camp...	OMIM:614175
Obesity And Hypopigmentation	Red hair	OMIM:620195
Joubert Syndrome 14	Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Meningocele, Cerebellar vermis ...	OMIM:614424
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Cousin Syndrome	Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl...	OMIM:260660
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele...	ORPHA:93322
Carney Complex, Type 1	Multiple lentigines, Red hair, Pheochromocytoma, Hirsutism, Cardiac myxoma, Thyroid follicular hy...	OMIM:160980
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Spina bifida	ORPHA:2345
Diabetic Embryopathy	Hydrocephalus, Microcephaly, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Aplasia/Hyp...	ORPHA:1926
Griscelli Syndrome Type 2	Premature graying of hair, Lymphadenopathy, Hypopigmentation of hair, Pancytopenia, Hemophagocyto...	ORPHA:79477
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,...	ORPHA:264200
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Microcephaly,...	OMIM:251230
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res...	ORPHA:88630
Congenital Toxoplasmosis	Microcephaly, Cerebral calcification, Microphthalmia, Hydrocephalus	ORPHA:858
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal...	ORPHA:1393
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation, Cardiomyopathy, Thrombocytopenia	ORPHA:67048
Orofaciodigital Syndrome Iv	Cerebral atrophy, Short finger, Porencephalic cyst, Foot polydactyly, Postaxial polydactyly, Hand...	OMIM:258860
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Cryptorchidism, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens	ORPHA:1381
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ...	ORPHA:317
Trisomy 18	Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho...	ORPHA:3380
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Umbilical hernia, Ulnar...	ORPHA:1101
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Macrocephaly, Hydrocephalus, Polymicrogyria, Finger syndactyly, Cerebral ischemia, Foot polydacty...	ORPHA:60040
Iniencephaly	Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-W...	ORPHA:63259
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Cerebrooculofacioskeletal Syndrome 2	Microcephaly, Camptodactyly of finger, Microphthalmia, Rocker bottom foot	OMIM:610756
Bresek Syndrome	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly	ORPHA:85284
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Vacterl With Hydrocephalus	Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Anophthalmia, Hydrocephalus, Spina...	ORPHA:3412
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, ...	ORPHA:48431
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand	OMIM:619339
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd...	ORPHA:1263
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Microcephaly, Polydactyly, Hypoplastic ischia	OMIM:616910
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplasia of the corpus callosum, Preaxial polydactyly, Bilateral talipes equinovarus, Microceph...	OMIM:618142
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Upper limb asymmetry, Relative macrocephaly, Clinodactyly of the 5th finger	ORPHA:231140
Temtamy Syndrome	Microphthalmia, Aortic regurgitation, Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, ...	OMIM:218340
Amish Lethal Microcephaly	Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly	ORPHA:99742
Neu-Laxova Syndrome 1	Rocker bottom foot, Microphthalmia, Radial deviation of finger, Primary microcephaly, Clinodactyl...	OMIM:256520
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly	ORPHA:1406
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cerebral cortical atrophy, Syringomyelia, Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
20P13 Microdeletion Syndrome	Polydactyly, Macrocephaly, Finger syndactyly, Microcephaly, Brachydactyly, Clinodactyly	ORPHA:313781
Temtamy Preaxial Brachydactyly Syndrome	Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ...	ORPHA:363417
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato...	ORPHA:2251
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu...	OMIM:214150
Bardet-Biedl Syndrome 19	Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand po...	OMIM:615996
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:263400
Sandestig-Stefanova Syndrome	Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Rocker bottom foot...	OMIM:618804
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Joubert Syndrome 23	Dysplastic corpus callosum, Polydactyly	OMIM:616490
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia	ORPHA:195
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Microcephaly, Split foot, Umbilical...	OMIM:305600
Holoprosencephaly	Spinal cord tumor, Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dand...	ORPHA:2162
Neuralgic Amyotrophy	Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Orofaciodigital Syndrome Xvii	Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala...	OMIM:617926
Mosaic Trisomy 1	Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th...	ORPHA:1692
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Microcephaly,...	OMIM:614833
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencep...	ORPHA:370959
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia	OMIM:613730
3P25.3 Microdeletion Syndrome	Microphthalmia, Proximal placement of thumb, Cerebral white matter atrophy, Pulmonic stenosis, Br...	ORPHA:435638
Ring Chromosome 21 Syndrome	Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand	ORPHA:1445
3Q29 Microduplication Syndrome	Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Microcephaly, Camptodac...	ORPHA:251038
Martsolf Syndrome 1	Periventricular white matter hyperintensities, Congestive heart failure, Microphthalmia, Slender ...	OMIM:212720
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation	OMIM:600151
Rhombencephalosynapsis	Polydactyly, Macrocephaly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Short phalanx...	ORPHA:59315
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum...	ORPHA:93258
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Monosomy 18P	Microphthalmia, Hypertension, Microcephaly, Holoprosencephaly, Brachydactyly	ORPHA:1598
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Abnormality of the palmar creases, Microphthalmia, Tricuspid regurgitation	OMIM:618652
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:1352
Joubert Syndrome 7	Genu valgum, Encephalocele, Abnormal corpus callosum morphology, Postaxial hand polydactyly, Post...	OMIM:611560
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Craniofrontonasal Dysplasia	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,...	ORPHA:1520
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1345
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Houge-Janssens Syndrome 2	Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Postaxial polydactyly, Broad hall...	OMIM:616362
Triokinase And Fmn Cyclase Deficiency Syndrome	Cerebellar hypoplasia, Dilated cardiomyopathy, Microphthalmia, Reduced systolic function	OMIM:618805
Warburg Micro Syndrome 2	Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Clinodactyly of ...	OMIM:614225
Microphthalmia-Brain Atrophy Syndrome	Microcephaly, Bilateral microphthalmos, Diffuse cerebral atrophy, Corpus callosum atrophy	ORPHA:77299
Griscelli Syndrome Type 1	Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism	ORPHA:79476
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda...	ORPHA:392
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:618858
Limb Body Wall Complex	Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha...	ORPHA:2369
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ectopia lentis, Cataract, Ventricular septal defect	ORPHA:3449
Baraitser-Winter Syndrome 2	Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:614583
Joubert Syndrome 33	Macrocephaly, Syndactyly	OMIM:617767
Brittle Cornea Syndrome 1	Red hair, Keratoglobus, Keratoconus, Decreased corneal thickness, Mitral valve prolapse, Abnormal...	OMIM:229200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the corpus callosum, Adducted thumb, Macrocephaly, Microphthalmia, Encephalocele, L...	OMIM:614643
Frontorhiny	Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Brachydactyly, Peric...	ORPHA:391474
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Cataract 47	Cataract, Microcornea	OMIM:612018
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met...	ORPHA:85167
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Tr...	OMIM:619879
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Sirenomelia	Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida	ORPHA:3169
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Camptodactyly of finger, Sh...	ORPHA:2994
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly	OMIM:602361
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin...	OMIM:619135
Congenital Rubella Syndrome	Microcephaly, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormal metaphysis morphology	ORPHA:290
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r...	OMIM:609945
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Garg-Mishra Progeroid Syndrome	Secondary microcephaly, Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa ...	OMIM:620601
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus...	OMIM:252100
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm...	OMIM:617914
Charcot-Marie-Tooth Disease, Type 4B3	Microcephaly, Syndactyly	OMIM:615284
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Macrocephaly, Clinodactyly of the 5th finger, Genu valgum, Prominent fingertip pads, Microcephaly...	OMIM:619721
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Alopecia of scalp, Ventricular septal hypertrophy, Abnormal aortic valve mor...	OMIM:615280
Weaver Syndrome	Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Finger syndactyly, Broad thumb, Camptod...	ORPHA:3447
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Fanconi Anemia, Complementation Group S	Microcephaly, Clinodactyly, Microphthalmia, Proximal placement of thumb	OMIM:617883
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Single transverse palmar c...	OMIM:619148
Hallermann-Streiff Syndrome	Abnormality of the hand, Microphthalmia, Slender long bone, Hypertension, Pulmonary arterial hype...	OMIM:234100
Rubinstein-Taybi Syndrome 2	Short 5th toe, Short first metatarsal, Prominent fingertip pads, Microcephaly, Broad thumb, Broad...	OMIM:613684
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
1Q21.1 Microdeletion Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Broad thumb, Foot po...	ORPHA:250989
Cartilage-Hair Hypoplasia	Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho...	ORPHA:175
Microphthalmia, Syndromic 2	Hypoplasia of the corpus callosum, 2-3 toe cutaneous syndactyly, Microphthalmia, Hammertoe, Sanda...	OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Microcephaly, Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Broad proximal phalang...	OMIM:607597
Cardiomyopathy, Dilated, 1Ii	Cataract, Dilated cardiomyopathy	OMIM:615184
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b...	ORPHA:2788
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand	OMIM:603543
2Q31.1 Microdeletion Syndrome	Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho...	ORPHA:251014
Campomelic Dysplasia	Dislocated radial head, Hypoplastic iliac wing, Relative macrocephaly, Femoral bowing, Short long...	OMIM:114290
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Developmental And Epileptic Encephalopathy 1	Microcephaly, Global brain atrophy, Microphthalmia	OMIM:308350
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:610582
Fanconi Anemia	Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ...	ORPHA:84
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Microphthalmia, Inferior cerebellar vermis hypoplasia, Clin...	OMIM:607932
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Ker...	OMIM:612843
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr...	OMIM:607323
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, 2-3 toe syndactyly, Postaxial hand ...	OMIM:264480
Cronkhite-Canada Syndrome	Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Anemia, Dystrophic toenail, Patchy alo...	ORPHA:2930
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypoplasia of the corpus callosum, Microphthalmia, Thin corpus callosum, Single transverse palmar...	OMIM:614105
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m...	OMIM:617306
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl...	OMIM:605282
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u...	ORPHA:163649
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Trisomy 20P	Abnormal hip bone morphology, Finger syndactyly, Spina bifida, Camptodactyly of finger, Brachydac...	ORPHA:261318
Neu-Laxova Syndrome	Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol...	ORPHA:2671
Heart And Brain Malformation Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Microphthalmia, Cerebe...	OMIM:616920
Stevenson-Carey Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Camptodactyly, Hip dysplasia, Cerebellar hypop...	OMIM:611961
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Small placenta, Clinodactyly of the 5th finger, Relative macrocephaly, Ectrodactyly,...	ORPHA:397590
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Abnormal eyebrow morphology, General...	ORPHA:2221
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Hemochromatosis, Type 4	Cataract, Cardiomyopathy, Anemia, Hyperpigmentation of the skin	OMIM:606069
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Red hair, Pituitary hypothyroidism, Hypopi...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Red hair, Pituitary hypothyroidism, Hypopi...	ORPHA:71526
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Macrocephaly, Upper limb undergrowth, Short 3rd metacarpal, Um...	OMIM:169400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Microphthalmia	OMIM:601794
Ring Chromosome 10 Syndrome	Microphthalmia, Tapered finger, Sandal gap	ORPHA:1438
Joubert Syndrome 37	Cerebellar vermis hypoplasia, Microphthalmia, Postaxial polydactyly, Hypoplasia of the corpus cal...	OMIM:619185
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Microphthalmia, Brachydactyly	OMIM:614526
Oculogastrointestinal Neurodevelopmental Syndrome	Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Oculofaciocardiodental Syndrome	Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, 2-3 toe s...	ORPHA:2712
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Polymicrogyria, Tibial...	OMIM:277170
Cockayne Syndrome Type 2	Anophthalmia, Subcortical white matter calcifications	ORPHA:90322
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Encephalocele, Hypoplastic acetabulae, S...	OMIM:134780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Cerebellar vermis hypoplasia, Ce...	OMIM:616538
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda...	OMIM:615994
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous...	OMIM:272440
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Overlapping fingers, Microphthalmia, Cavum s...	ORPHA:464738
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb, Cavum septum pellucidum, Cerebellar vermis hypoplasi...	OMIM:304050
Aniridia-Intellectual Disability Syndrome	Cataract, Ectopia lentis, Aniridia	ORPHA:1068
Congenital Fibrinogen Deficiency	Tachycardia, Microphthalmia, Internal hemorrhage, Clubbing of fingers	ORPHA:335
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact...	OMIM:236500
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Arrhythmia	ORPHA:3191
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Radial club hand, Triphalangea...	ORPHA:959
Marden-Walker Syndrome	Microphthalmia, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Camptodactyly, ...	OMIM:248700
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H...	OMIM:147750
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Absent thumb, Sho...	OMIM:609053
Baraitser-Winter Syndrome 1	Microphthalmia, Microcephaly, Aortic valve stenosis, Duplication of phalanx of hallux, Pachygyria...	OMIM:243310
Jacobsen Syndrome	Cerebral atrophy, Macrocephaly, Finger syndactyly, Spina bifida, Aortic valve stenosis, Toe clino...	ORPHA:2308
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial ...	OMIM:615503
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Relative macrocephaly, Hypoplastic ilia, Micromelia, Postaxial polydact...	OMIM:617895
Lymphedema-Hypoparathyroidism Syndrome	Cataract, Mitral valve prolapse, Hypoparathyroidism, Hypertrichosis	OMIM:247410
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia...	OMIM:618494
6P22 Microdeletion Syndrome	Hydrocephalus, Finger syndactyly, Clinodactyly	ORPHA:251046
Myoclonic-Astatic Epilepsy	Microcephaly, Microphthalmia, Syndactyly	ORPHA:1942
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni...	OMIM:304120
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Hypogonadism-Cataract Syndrome	Cataract, Elevated circulating follicle stimulating hormone level	OMIM:240950
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I...	ORPHA:999
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po...	OMIM:217085
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Cataract	ORPHA:1366
Holoprosencephaly 9	Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydro...	OMIM:610829
Pallister-Hall Syndrome	Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Microphthalmia, Y-shaped ...	OMIM:146510
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Tethered cord, Microcephaly, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism	OMIM:617660
Acrofrontofacionasal Dysostosis 2	Microcephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Cloacal Exstrophy	Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid...	ORPHA:93929
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F...	OMIM:101600
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Oculopalatocerebral Syndrome	Microcephaly, Microphthalmia	OMIM:257910
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Short long bone, Brachydactyly	OMIM:615633
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda...	OMIM:617866
Oculo-Palato-Cerebral Syndrome	Global brain atrophy, Microphthalmia, Frontal cortical atrophy, Microcephaly, Aplasia/Hypoplasia ...	ORPHA:2714
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Poland Syndrome	Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Roberts Syndrome	Bilateral single transverse palmar creases, Hypoplasia of the radius, Microphthalmia, Radial devi...	ORPHA:3103
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Syndactyly, Brachydactyly	OMIM:616589
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Lymphadenopathy, Silver-gray hair, Abnorma...	ORPHA:381
Triploidy	Macrocephaly, Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the eye...	ORPHA:3376
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Adams-Oliver Syndrome 1	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Encephalocele, P...	OMIM:100300
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla...	OMIM:620663
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap	OMIM:612918
Chromosome 3Pter-P25 Deletion Syndrome	Microcephaly, Postaxial polydactyly, Overlapping toe, Tapered finger, Macular hypoplasia	OMIM:613792
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph...	OMIM:608940
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Microphthalmia, Syndromic 3	Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcep...	OMIM:206900
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur	ORPHA:2728
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Sin...	OMIM:616449
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,...	ORPHA:3214
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di...	OMIM:619451
Laurence-Moon Syndrome	Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly	ORPHA:2377
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Sandal gap, Microcephaly, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Cer...	OMIM:612530
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Polymicr...	OMIM:244300
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Microphthalmia, Microcephaly, Upper limb asymmetry, Umbilical hernia	ORPHA:2505
Warburg Micro Syndrome 3	Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5t...	OMIM:614222
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve...	OMIM:612651
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi...	OMIM:616300
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte...	OMIM:609638
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Hypoparathyroidism, Adrenal hyperplasia, Abnormal fingernail morpholo...	ORPHA:3453
Syngap1-Related Developmental And Epileptic Encephalopathy	Microcephaly, Postaxial polydactyly	ORPHA:544254
Refsum Disease	Microphthalmia, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormal epiphysis morp...	ORPHA:773
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi...	OMIM:614091
Monosomy 13Q14	Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl...	ORPHA:1587
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Single transverse palmar crease, Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Microphthalmia, Lenz Type	Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ...	ORPHA:568
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Relative macrocepha...	OMIM:615777
Phakomatosis Pigmentokeratotica	Hemiatrophy, Arrhythmia, Raynaud phenomenon, Spina bifida	ORPHA:2874
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Microcephaly, Broad thumb, Broad hallux, Short ...	OMIM:600987
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:1788
Ifap Syndrome 2	Nail dystrophy, Atrichia, Keratitis, Sparse hair, Cataract, Keratoconjunctivitis sicca	OMIM:619016
Congenital Sialidosis Type 2	Polydactyly, Macrocephaly, Hydrocephalus, Hypoplasia of the fovea, Umbilical hernia, Abnormal EKG...	ORPHA:93400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Macrocephaly, Joint contracture of the 5th finger, Single transverse palmar creas...	OMIM:620098
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal cortical gyration, Encephalocele, Aplasia/Hypoplasia of the th...	OMIM:219000
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, Microphthalmia, Single transverse palmar crease, Camptodact...	OMIM:272950
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly	OMIM:618727
Hoxha-Aliu Syndrome	Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing...	OMIM:620662
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Broad...	OMIM:212780
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Relative mac...	OMIM:300963
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly	OMIM:601163
9Q21.13 Microdeletion Syndrome	Polydactyly, Syringomyelia, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia	ORPHA:531151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypo...	OMIM:253800
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Stromme Syndrome	Preaxial polydactyly, Microphthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydro...	OMIM:243605
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta	ORPHA:2475
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Short palm, Short foot, Small hand	OMIM:241410
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Microcephaly, ...	ORPHA:435938
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Cerebral calcification, Microcephaly, Short palm, Arachnodactyly, Toe syndactyly	ORPHA:73246
Suleiman-El-Hattab Syndrome	Polydactyly, Single transverse palmar crease, Microcephaly, Brachydactyly, Clinodactyly	OMIM:618950
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Microcephaly, Vitreous hemorrhage, Retinal neovasculariza...	ORPHA:891
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Adducted thumb, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Over...	OMIM:617822
Albinism, Oculocutaneous, Type Ia	Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent...	OMIM:203100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Hypopigmentation of hair	ORPHA:70472
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Postax...	ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, P...	OMIM:613150
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Melanocytic nevus, Albini...	OMIM:203300
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Neural tube defect, Clinodactyly	OMIM:119580
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Galloway-Mowat Syndrome 3	Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypertension, Camptodactyly,...	OMIM:617729
Cohen Syndrome	Microphthalmia, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodacty...	ORPHA:193
Hereditary Mucoepithelial Dysplasia	Corneal dystrophy, Sparse hair, Cataract, Fine hair, Alopecia	ORPHA:1839
Vater/Vacterl Association	Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Tet...	OMIM:192350
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Clinodactyly of the 5th finger	OMIM:167730
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus callosum morphol...	ORPHA:3224
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Generalized hirsutism, Mitral valve prolapse, Anonychia, Cataract	ORPHA:1563
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,...	ORPHA:1786
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Mend Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 ...	ORPHA:401973
Ectodermal Dysplasia-Blindness Syndrome	Corneal dystrophy, Microcornea, Abnormality of skin pigmentation, Abnormal fingernail morphology,...	ORPHA:1806
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Lacrimal gland hypoplasia, Heterochromia i...	OMIM:613266
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap	OMIM:615761
Aarskog-Scott Syndrome	Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa...	ORPHA:915
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb...	ORPHA:3186
Joubert Syndrome 2	Microphthalmia, Macrocephaly, Encephalocele, Hydrocephalus, Abnormal corpus callosum morphology, ...	OMIM:608091
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he...	ORPHA:231222
Acrootoocular Syndrome	Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Microcephaly, Prominent calcan...	ORPHA:2980
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Hypertension, Microcephaly, Abnormal cerebral white matter morphology, Syndactyly,...	ORPHA:2169
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Abnormal testis...	ORPHA:100
Joubert Syndrome 21	Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Hypoplas...	OMIM:615636
Joubert Syndrome 27	Polydactyly	OMIM:617120
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Corneal neovascularization, Chronic monilial nail infection, Kera...	OMIM:158310
Nasopalpebral Lipoma-Coloboma Syndrome	Microcephaly, Microphthalmia, Clinodactyly of the 5th finger, Bilateral microphthalmos	ORPHA:2399
Cockayne Syndrome Type 1	Hypertension, Basal ganglia calcification, Anophthalmia	ORPHA:90321
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
3Q29 Microdeletion Syndrome	Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Mi...	ORPHA:65286
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Finger syndactyly, Myelomeningocele, Microcephaly, W...	ORPHA:2052
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Syndactyly, Umbilical hernia, C...	ORPHA:369891
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Pagod Syndrome	Encephalocele, Meningocele, Spina bifida, Microcephaly, Arrhythmia, Sudden cardiac death	ORPHA:991
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Microcephaly, Cerebellar hypoplasia, Clinodactyly, Syndactyly	OMIM:618087
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, Microcephaly, Long ...	OMIM:156610
Classic Phenylketonuria	Cataract, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Cryptorchidism, Red hair, Fair hair	OMIM:614613
Oculodentodigital Dysplasia	Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short...	OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing...	OMIM:257850
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Nance-Horan Syndrome	Broad finger, Short phalanx of finger, Microphthalmia	OMIM:302350
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Meningocele, Hydrocephal...	ORPHA:567
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Cort...	OMIM:613001
ERI1-related disease	Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Tr...	OMIM:608739
Yunis-Varon Syndrome	Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Hypertension, Cardiomyopathy, Apl...	ORPHA:3472
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Hydrocephalus, Tricuspid regurgitation, Hypertrophic cardiomyopathy...	ORPHA:2556
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Neurofibromatosis, Type I	Aqueductal stenosis, Macrocephaly, Genu valgum, Hydrocephalus, Hypertension, Spina bifida, Tibial...	OMIM:162200
Charge Syndrome	Polydactyly, Aqueductal stenosis, Microphthalmia, Abnormal tibia morphology, Clinodactyly of the ...	ORPHA:138
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati...	OMIM:302960
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa...	ORPHA:93259
Osteopetrosis, Autosomal Recessive 8	Macrocephaly, Unilateral microphthalmos	OMIM:615085
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Koolen-De Vries Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti...	ORPHA:363958
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Cerebellar vermis hypoplasia, S...	OMIM:311900
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb, 2-3 finger syn...	OMIM:603467
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Finger ...	ORPHA:1001
19P13.12 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Deep palmar crease, Aortic regurgitation, Sandal gap, Clinodac...	ORPHA:254346
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Abnormality of hai...	ORPHA:90354
Incontinentia Pigmenti	Congestive heart failure, Microphthalmia, Spina bifida occulta, Finger syndactyly, Abnormal hand ...	ORPHA:464
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Cataract	ORPHA:171844
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha...	ORPHA:90652
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph...	ORPHA:710
Isolated Aniridia	Cataract, Peters anomaly, Aniridia	ORPHA:250923
Galloway-Mowat Syndrome 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Dand...	OMIM:251300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of the olfactory bulb, Anophthalmia	ORPHA:2250
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, M...	OMIM:614701
Short Stature With Microcephaly And Distinctive Facies	Hypoplasia of the corpus callosum, Proximal placement of thumb, Microcephaly, Syndactyly, Brachyd...	OMIM:615789
Bartsocas-Papas Syndrome	Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent t...	ORPHA:1234
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowi...	ORPHA:1005
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Silver-Russell Syndrome 3	Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Small hand	OMIM:616489
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macrocephaly, Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb	OMIM:618874
Chediak-Higashi Syndrome	Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Anemia, Lymphadenopath...	OMIM:214500
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Biparietal narrowing, ...	ORPHA:2754
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Holoprose...	ORPHA:2166
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Microcephaly, Broad thumb, Camptodact...	ORPHA:1236
Mend Syndrome	Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, Aortic valve stenosis,...	OMIM:300960
Oculocerebrocutaneous Syndrome	Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Finger syndactyly, Congenital hip dislo...	ORPHA:1647
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Microphthalmia, Syndromic 9	Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia	OMIM:601186
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia	OMIM:149000
Dyskeratosis Congenita, Autosomal Dominant 2	Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, White f...	OMIM:613989
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo...	OMIM:142900
Oliver Syndrome	Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi...	ORPHA:2920
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Frontofacionasal Dysplasia	Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Hypoplasia of olfactory tract	ORPHA:1791
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia, Bowing of the long bones, Pulmonary arterial hypertension, ...	OMIM:614437
8Q21.11 Microdeletion Syndrome	Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen...	ORPHA:284160
Joubert Syndrome 39	Cerebellar vermis hypoplasia, Occipital encephalocele, Postaxial polydactyly, Joint contracture o...	OMIM:619562
Goldberg-Shprintzen Megacolon Syndrome	Microcephaly, Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum	ORPHA:66629
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys...	ORPHA:397715
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microcephaly, Microphthalmia, Simplified gyral pattern	OMIM:152950
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Pulmonic stenosis, Syndactyly	OMIM:220210
Autosomal Recessive Spondylocostal Dysostosis	Macrocephaly, Spina bifida occulta, Meningocele, Finger syndactyly, Microcephaly, Camptodactyly o...	ORPHA:2311
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b...	ORPHA:96334
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Cerebellar vermis hypoplasi...	OMIM:616546
Syndromic Diarrhea	Trichorrhexis nodosa, Thrombocytosis, Hypopigmentation of hair, Brittle hair, Generalized hypopig...	ORPHA:84064
Warburg Micro Syndrome 4	Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Cerebral cortical atro...	OMIM:615663
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Brachydactyly, Micromelia	ORPHA:2145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Buphthalmos, Hydrocep...	OMIM:236670
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Agenesis o...	OMIM:300952
Congenital Disorder Of Glycosylation, Type Iil	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hydrocephalus, M...	OMIM:614576
Waardenburg Syndrome, Type 1	Hypoplastic iris stroma, Myelomeningocele, Spina bifida	OMIM:193500
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Tethered cord, Dermal sinus tract, Myelome...	OMIM:600145
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb	OMIM:610832
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Cardiomyopathy, Microcephaly, Short palm, Syndactyly, Agenesis of co...	OMIM:217980
Orofaciodigital Syndrome I	Cerebral atrophy, Polydactyly, Abnormal cortical gyration, Radial deviation of finger, Hydrocepha...	OMIM:311200
Fanconi Anemia, Complementation Group E	Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t...	OMIM:600901
Chromosome 8Q21.11 Deletion Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly, A...	OMIM:614230
Atelis Syndrome 2	Microphthalmia, Single transverse palmar crease, Supravalvar pulmonary stenosis, Microcephaly, Pu...	OMIM:620185
Rere-Related Neurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Hip dysplasia, Microphthalmia, Hypoplasia of the corpus callosum	ORPHA:494344
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Hermansky-Pudlak Syndrome 11	Iris transillumination defect, Reduced platelet dense granules, Melanocytic nevus, Albinism, Fair...	OMIM:619172
Kbg Syndrome	Microcephaly, Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly	ORPHA:2332
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod...	ORPHA:158687
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont...	ORPHA:468631
Aniridia 3	Cataract, Aniridia	OMIM:617142
Fanconi Anemia, Complementation Group D2	Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Microcephaly, Aplasia of the 1s...	OMIM:227646
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing...	ORPHA:1323
Vitreoretinochoroidopathy	Vitreous hemorrhage, Microphthalmia, Retinal neovascularization	OMIM:193220
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons...	OMIM:609734
Miller-Dieker Lissencephaly Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Deep palmar crease, Clinodactyly of the 5th finge...	OMIM:247200
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia, Ag...	ORPHA:3301
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Fetal Alcohol Syndrome	Microcephaly, Microphthalmia, Biparietal narrowing	ORPHA:1915
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Abnormal distal phalanx morpholo...	ORPHA:783
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Split hand, Cerebral cortical atrophy, Split f...	ORPHA:2008
Congenital Disorder Of Glycosylation, Type Iq	Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia	OMIM:612379
Charge Syndrome	Hypoplasia of the ulna, Microphthalmia, Anophthalmia, Unilateral microphthalmos, Absent tibia, Ha...	OMIM:214800
Histiocytoid Cardiomyopathy	Congestive heart failure, Microphthalmia, Atrial flutter, Wolff-Parkinson-White syndrome, Hydroce...	ORPHA:137675
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Apert Syndrome	Limited elbow movement, Megalencephaly, Delayed epiphyseal ossification, Hydrocephalus, Finger sy...	OMIM:101200
Hermansky-Pudlak Syndrome	Astigmatism, Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy,...	ORPHA:79430
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Radial deviation of finger, Microphthalmia, Anencephaly,...	OMIM:249000
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl...	ORPHA:231226
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb...	OMIM:184705
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent...	OMIM:601005
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Fanconi Anemia, Complementation Group A	Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t...	OMIM:227650
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Epiphyseal stippling, Apl...	OMIM:308050
Bohring-Opitz Syndrome	Hypoplasia of the corpus callosum, Deep palmar crease, Dislocated radial head, Dandy-Walker malfo...	OMIM:605039
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Splenomegaly, Hypopigmentation of hair	OMIM:618541
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231214
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm, Agenesis of corpus callosum	ORPHA:268249
Micro Syndrome	Microphthalmia, Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Pachygyria...	ORPHA:2510
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal cortical gyration, Progressive mi...	OMIM:617527
Myhre Syndrome	Short finger, Microphthalmia, Radial deviation of finger, Macrocephaly, Hypoplastic iliac wing, 2...	OMIM:139210
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Microphthalmia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum	OMIM:234050
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Macrocephaly, Abnormality of the medullary cavity of the long bones, Basal gangli...	OMIM:127000
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Brachydactyly, Umbilical hernia	OMIM:616028
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Agene...	ORPHA:306542
Monosomy 9Q22.3	Polydactyly, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calcification of falx cere...	ORPHA:77301
Squalene Synthase Deficiency	Bicuspid aortic valve, Abnormality of hair pigmentation, Bilateral cryptorchidism	OMIM:618156
Xeroderma Pigmentosum, Complementation Group D	Microcephaly, Corneal neovascularization, Microphthalmia, Telangiectasia	OMIM:278730
Aarskog-Scott Syndrome	Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre...	OMIM:305400
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Macrocephaly, Slender long bone, Tibial bowing, Osteolytic defects of the distal ...	OMIM:601812
Silver-Russell Syndrome 1	Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Clinodactyly of t...	OMIM:180860
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Junctional ectopic tachycardia, Hydrocephalus, Histiocytoid cardiomyopathy, Singl...	OMIM:309801
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Oculocerebral Hypopigmentation Syndrome, Preus Type	Generalized hypopigmentation, White hair, Iris hypopigmentation, Cataract, Abnormality of neutrop...	ORPHA:2720
Bardet-Biedl Syndrome 1	Radial deviation of finger, Macrocephaly, Hypertension, Postaxial hand polydactyly, Foot polydact...	OMIM:209900
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Small hand	ORPHA:1787
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Thin corpus callosum, Tethered cord, Tapered finger, Spina bifida, Partial agenesis of the corpus...	OMIM:619480
Cranioectodermal Dysplasia 3	Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndacty...	OMIM:614099
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir...	OMIM:611584
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microcephaly, Microphthalmia, Anophthalmia	ORPHA:2526
Crane-Heise Syndrome	Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Aplasia/Hypoplasia of the corp...	ORPHA:1512
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Cantú Syndrome	Abnormal metaphysis morphology, Macrocephaly, Short hallux, Finger syndactyly, Hypertrophic cardi...	ORPHA:1517
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, ...	OMIM:151050
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Macrocephaly, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlapping fingers	OMIM:618316
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Microphthalmia, Inferior cerebellar vermis hypoplasia	OMIM:618571
Kury-Isidor Syndrome	Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,...	OMIM:619762
19Q13.11 Microdeletion Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Microcephaly, Toe ...	ORPHA:217346
Fg Syndrome Type 1	Abnormal thumb morphology, Macrocephaly, Clinodactyly of the 2nd finger, Hydrocephalus, Optic ner...	ORPHA:93932
Adnp Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Polydactyly, Focal white matter lesions, San...	ORPHA:404448
Cahmr Syndrome	Lamellar cataract, Generalized hypertrichosis	OMIM:211770
Jacobsen Syndrome	Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Holopr...	OMIM:147791
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Microcephaly, Symphalangism of the thumb, Syndactyly, Clinodactyly	ORPHA:1439
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha...	ORPHA:93260
Proboscis Lateralis	Microphthalmia, Macrocephaly, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morp...	ORPHA:141099
3C Syndrome	Macrocephaly, Abnormal hip bone morphology, Hydrocephalus, Dandy-Walker malformation, Finger synd...	ORPHA:7
Branchiooculofacial Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Proximal placement of thumb, Anophthalmia, Branch...	OMIM:113620
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Encephalocele, Finger syndactyly, Polymicrogyria, Broad thumb, Broad ...	ORPHA:2211
Chromosome 13Q14 Deletion Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve...	OMIM:613884
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2710
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Cri-Du-Chat Syndrome	Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Microc...	OMIM:123450
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H...	OMIM:308300
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, Short metacarpal, Micr...	OMIM:210710
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Cerebellar vermi...	ORPHA:314679
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Microphthalmia, Pachygyria	ORPHA:2328
Frontonasal Dysplasia 2	Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, M...	OMIM:613451
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair	ORPHA:53271
8Q22.1 Microdeletion Syndrome	Microcephaly, Camptodactyly of finger, Finger syndactyly, Sandal gap	ORPHA:178303
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome...	OMIM:268310
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Koolen-De Vries Syndrome	Bicuspid aortic valve, Hypopigmentation of hair, Abnormality of hair texture, Cataract, Cryptorch...	ORPHA:96169
Acromelic Frontonasal Dysostosis	Hypoplasia of the corpus callosum, Patellar hypoplasia, Encephalocele, Cavum septum pellucidum, T...	OMIM:603671
Linear Nevus Sebaceus Syndrome	Microphthalmia, Cerebral calcification, Dandy-Walker malformation, Porencephalic cyst, Biparietal...	ORPHA:2612
Hydrolethalus Syndrome 1	Microphthalmia, Abnormal cortical gyration, Anencephaly, Talipes equinovarus, Upper limb undergro...	OMIM:236680
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Microcephaly, Aplasia of the distal...	ORPHA:364577
Opitz-Kaveggia Syndrome	Postnatal macrocephaly, Radial deviation of finger, Hydrocephalus, Single transverse palmar creas...	OMIM:305450
Dyrk1A-Related Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitat...	ORPHA:464306
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hyp...	ORPHA:457284
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Poland Syndrome	Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Spina bifi...	ORPHA:2911
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dysplasia, Pancytopenia, Increased mean ...	OMIM:617052
Amyloidosis, Finnish Type	Lattice corneal dystrophy, Cardiac amyloidosis, Cardiomyopathy, Cataract	OMIM:105120
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Orofaciodigital Syndrome V	Sandal gap, Postaxial hand polydactyly, Microcephaly, Postaxial polydactyly, Agenesis of corpus c...	OMIM:174300
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Tethered cord, Tricuspid regurgitation, Microcephaly, Postaxial pol...	OMIM:618460
Fanconi Anemia, Complementation Group C	Microphthalmia, Absent radius, Microcephaly, Absent thumb, Short thumb, Complete duplication of t...	OMIM:227645
Holoprosencephaly 7	Semilobar holoprosencephaly, Microphthalmia, Macrocephaly, Bilateral microphthalmos, Alobar holop...	OMIM:610828
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Talipe...	ORPHA:35173
Vici Syndrome	Atrial septal defect, Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Cardio...	OMIM:242840
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, Hypertension, Retinal h...	OMIM:609049
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly	OMIM:614800
Ohdo Syndrome, X-Linked	Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda...	OMIM:300895
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Microphthalmia, Syndromic 1	Microphthalmia, Radial deviation of finger, Anophthalmia, Short clavicles, Prominent fingertip pa...	OMIM:309800
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Syndactyly	OMIM:616430
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger	ORPHA:246
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Microphthalmia, Basal ganglia calcification	OMIM:610651
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Prolonged QT interval, Optic nerve hypoplasia, Pulmonary arterial h...	OMIM:620029
Rodrigues Blindness	Microphthalmia	OMIM:268320
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Macrocephaly, Short 4th metacarpal, Hip subl...	ORPHA:221120
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Grange Syndrome	Renovascular hypertension, Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Hallermann-Streiff Syndrome	Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Cerebella...	ORPHA:2108
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Dandy-Walker malformation, ...	ORPHA:1052
Chédiak-Higashi Syndrome	Anemia, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Abnormal natural killer cell mo...	ORPHA:167
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short distal phalanx of finger	OMIM:201180
Skin Creases, Congenital Symmetric Circumferential, 2	Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndac...	OMIM:616734
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Momo Syndrome	Bilateral microphthalmos, Macrocephaly, Femoral bowing, Short sternum, Large hands, Congenital ps...	ORPHA:2563
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Small hand, Dandy-Walker malformat...	OMIM:300968
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Polymicrogyria, Syndactyly, Umbilical hernia	OMIM:614520
X Small Rings	Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Mitral stenosis, Lowe...	ORPHA:96201
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Dandy-Walker malformation, Single transv...	OMIM:619297
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br...	ORPHA:503
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Hypertension, Micromelia, Broa...	ORPHA:87
Hamamy Syndrome	Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Down-sloping shoulders, Syndactyl...	OMIM:611174
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Corneal opacity, Iris hypopigmentation, Cataract, Cryptorchidis...	ORPHA:2719
Fryns Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Dandy-Walker malformation, Cerebral cortical atro...	ORPHA:2059
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast...	OMIM:617925
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, ...	OMIM:616975
Neurocardiofaciodigital Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Cavum septum pellucidum, Cerebellar vermis hypopl...	OMIM:619869
Constricting Bands, Congenital	Talipes equinovarus, Hand polydactyly, Syndactyly, Encephalocele	OMIM:217100
Bartsocas-Papas Syndrome 1	Microphthalmia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Short phala...	OMIM:263650
Cockayne Syndrome B	Cerebral atrophy, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Hypoplastic ...	OMIM:133540
Fanconi Anemia, Complementation Group L	Microphthalmia, Hydrocephalus, Bilateral talipes equinovarus, Absent thumb, Absent radius, Cerebe...	OMIM:614083
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Abnormal corpus callosum ...	ORPHA:2886
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye	ORPHA:91495
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Cerebral atrophy, Macrocephaly, Radial deviation of finger, Sandal gap, Tethered cord, Supravalva...	OMIM:618164
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles...	ORPHA:330015
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Legius Syndrome	Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Pulmonic stenosis, Paroxysmal atrial t...	ORPHA:137605
Aicardi Syndrome	Microphthalmia, Polymicrogyria, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum...	ORPHA:50
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5...	OMIM:608670
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Dubowitz Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Hypoplasia of th...	OMIM:223370
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Pulmonary arterial hypertension, Portal hypertension, Microcephaly, Hip dysplasia...	OMIM:620005
Pallister-Hall Syndrome	Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a...	ORPHA:672
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna...	OMIM:148050
Trichothiodystrophy 1, Photosensitive	Microcephaly, Microphthalmia, Telangiectasia	OMIM:601675
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Acrocallosal Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tape...	OMIM:200990
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly	OMIM:615824
Microphthalmia/Coloboma 12	Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:120200
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br...	ORPHA:989
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Robinow Syndrome, Autosomal Dominant 3	Macrocephaly, Tricuspid regurgitation, Camptodactyly, Broad thumb, Short phalanx of finger, Mesom...	OMIM:616894
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Congenital hip dislocation, Short palm, Short thumb, Forearm reduction defects, T...	OMIM:268400
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Bardet-Biedl Syndrome 20	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly	OMIM:619471
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Multiple Pterygium-Malignant Hyperthermia Syndrome	Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod...	ORPHA:2215
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Hydrocephalus, Congenital hip dislocation, Syndactyly, Umbilical hernia	OMIM:104350
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Monosomy 9P	Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Postaxia...	ORPHA:261112
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Secondary microcephaly, Thin corpus callosum, Cavum septum pellucidum, Cerebellar vermis hypoplas...	OMIM:620654
Choanal Atresia	Polydactyly	ORPHA:137914
Diaphragmatic Hernia 4, With Cardiovascular Defects	Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 toe ...	OMIM:620025
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Microcephaly, Lobar holopros...	OMIM:615465
Townes-Brocks Syndrome 1	Metatarsal synostosis, Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Hydroc...	OMIM:107480
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Preaxi...	ORPHA:887
Phace Syndrome	Abnormal cardiac septum morphology, Heterochromia iridis, Abnormal heart morphology, Sclerocornea...	ORPHA:42775
Witteveen-Kolk Syndrome	Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodac...	OMIM:613406
Smith-Lemli-Opitz Syndrome	Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t...	ORPHA:818
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Dandy-Walker malformation, ...	ORPHA:2750
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Cerebral atrophy, Polydactyly, Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomy...	ORPHA:17
Fryns Syndrome	Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Dandy-Walker malformation, Singl...	OMIM:229850
Traboulsi Syndrome	Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux	OMIM:601552
Phace Association	Optic nerve hypoplasia, Microphthalmia, Dandy-Walker malformation, Cerebellar hypoplasia	OMIM:606519
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Short 5th finger, Long t...	ORPHA:508488
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Anemia, Abnormal hemoglobin	ORPHA:847
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcephaly, Microphthalmia	OMIM:110100
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Tibial bowing, Microcephaly, Metaphyseal widening, Phthisis bulbi	OMIM:259770
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal macrocephaly, Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening o...	ORPHA:93325
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,...	OMIM:269500
Au-Kline Syndrome	Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Lipomyelomeningo...	OMIM:616580
Cat Eye Syndrome	Pulmonic stenosis, Microphthalmia, Absent radius, Umbilical hernia	OMIM:115470
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Optic nerve hypoplasia, Hypotension, Septo-optic dysplasia, Abnormal digit morpholog...	ORPHA:95494
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Abnorma...	ORPHA:1507
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Camptodactyly, Camptodactyly of toe, Arachnodactyly, ...	OMIM:265000
Autoimmune Polyendocrine Syndrome, Type Ii	Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Cataract, Alopecia	OMIM:269200
Bloom Syndrome	Clinodactyly of the 5th finger, Microcephaly, Facial telangiectasia in butterfly midface distribu...	OMIM:210900
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Genu valgum, Anophthalmia, Hydrocephalus, Branchial anom...	OMIM:164210
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Hypopigmentation of hair, Hyperpigmentatio...	ORPHA:177907
Okamoto Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Syringomyelia, Abnormally large globe, Tethered c...	ORPHA:2729
Holoprosencephaly 1	Microphthalmia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum...	OMIM:236100
Autosomal Recessive Multiple Pterygium Syndrome	Spina bifida occulta, Finger syndactyly, Microcephaly, Camptodactyly of finger, Symphalangism aff...	ORPHA:2990
Saethre-Chotzen Syndrome	Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pelvic girdle bone...	OMIM:101400
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly	OMIM:617666
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Single transverse palmar cr...	OMIM:612474
Degcags Syndrome	Polydactyly, Microphthalmia, Genu valgum, Talipes equinovarus, Pulmonary arterial hypertension, M...	OMIM:619488
Orofaciodigital Syndrome Xiv	Hypoplasia of the corpus callosum, Occipital encephalocele, Preaxial polydactyly, Cerebellar verm...	OMIM:615948
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma...	OMIM:268300
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Macrocephaly, Abnormal metacarpal morphology, Hydrocephalus, Fing...	ORPHA:2658
Faciocardiomelic Syndrome	Microcephaly, Polydactyly, Slender long bone, Hypoplastic pelvis	OMIM:612731
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Stolerman Neurodevelopmental Syndrome	Broad palm, Clinodactyly of the 5th finger, Syndactyly	OMIM:618505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Buphthalmos, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Microcephaly, ...	OMIM:253280
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t...	OMIM:263750
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypoplasia of the corpus callosum, Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aort...	ORPHA:268261
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ...	ORPHA:794
Cranioectodermal Dysplasia 2	Polydactyly, Macrocephaly, Rhizomelia, Hypertension, Postaxial hand polydactyly, Mesomelia, Synda...	OMIM:613610
Carpenter Syndrome 2	Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker...	OMIM:614976
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Prominent fingertip pads, S...	OMIM:615873
Simpson-Golabi-Behmel Syndrome	Macrocephaly, Prolonged QT interval, Clinodactyly of the 5th finger, Short 2nd finger, Finger syn...	ORPHA:373
Trichothiodystrophy	Periventricular leukomalacia, Bilateral microphthalmos, Cerebral dysmyelination, Clubbing, Cardio...	ORPHA:33364
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2473
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Preaxial polydactyly	ORPHA:163681
Neuroocular Syndrome	Periventricular leukomalacia, Microphthalmia, Deep palmar crease, Clinodactyly of the 5th finger,...	OMIM:619539
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Fontaine Progeroid Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Deep palmar crease, Cerebellar vermis hypoplas...	OMIM:612289
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Cardiomyopathy, Flat acetabular roof, Microcephaly, A...	OMIM:216340
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Brachydactyly, Narrow joint sp...	ORPHA:96182
Prader-Willi Syndrome	Acromicria, Radial deviation of finger, Genu valgum, Short foot, Narrow palm, Short palm, Syndact...	OMIM:176270
Cockayne Syndrome Type 3	Microphthalmia, Increased blood pressure, Progressive microcephaly, Cerebral white matter atrophy...	ORPHA:90324
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx...	ORPHA:353277
Sympathetic Ophthalmia	Anterior chamber cells, Poliosis, Corneal keratic precipitates, Vitiligo, Cataract, Posterior syn...	ORPHA:79098
Townes-Brocks Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, Broad thumb, Toe...	ORPHA:857
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypopigmentation of hair, Hypopigmentation of the skin, Decreased testicul...	ORPHA:398069
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Microphthalmia, Hydrocephalus, Cortical dysplasia, P...	OMIM:175780
Monosomy 22	Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Mic...	ORPHA:96123
3Mc Syndrome 3	Preaxial polydactyly, Clinodactyly, Radioulnar synostosis	OMIM:248340
Papillorenal Syndrome	Microphthalmia, Hypertension	OMIM:120330
Renpenning Syndrome 1	Cerebral atrophy, Microphthalmia, Clinodactyly of the 5th finger, Camptodactyly, Microcephaly, Sy...	OMIM:309500
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Hypopigmentation of hair, Anterior pituita...	ORPHA:98754
Lymphedema-Distichiasis Syndrome	Microphthalmia, Arrhythmia	OMIM:153400
Mosaic Trisomy 16	Large placenta, Single transverse palmar crease, Short forearm, Syndactyly, Short femoral neck, S...	ORPHA:1708
Exstrophy-Epispadias Complex	Microcephaly, Hydrocephalus, Spina bifida	ORPHA:322
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Hypopigmentation of hair, Anterior pituita...	ORPHA:98793
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta...	ORPHA:352665
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Toe syndactyly, Finger syndactyly, Palmoplantar hyper...	ORPHA:3253
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Hypopigmentation of hair, Anterior pituita...	ORPHA:177904
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Hypopigmentation of hair, Anterior pituita...	ORPHA:177901
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Cardiomyopathy, Flared iliac wing, Pul...	OMIM:312870
Cockayne Syndrome	Cerebral atrophy, Microphthalmia, Cerebral dysmyelination, Progressive microcephaly, Cerebral cal...	ORPHA:191
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypopigmentation of hair, Hypopigmentation of the skin, Decreased testicul...	ORPHA:398079
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad...	OMIM:227330
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Dysplastic corpus callosum, Macrocephaly, Polymicrogyria, Holoprosencepha...	OMIM:618820
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand	ORPHA:1300
Orofaciodigital Syndrome Type 4	Finger syndactyly, Subcortical cerebral atrophy, Postaxial hand polydactyly, Split hand, Micromel...	ORPHA:2753
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Aniridia, Microcornea, Low posterior hai...	ORPHA:233
Robinow Syndrome	Macrocephaly, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of the...	ORPHA:97360
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Single transverse palmar crease, Branchial cyst, Pulmonary arterial hypertension,...	OMIM:620186
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Cerebellar vermis hypoplasia, Dand...	ORPHA:480880
Mckusick-Kaufman Syndrome	Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation	OMIM:236700
Autosomal Dominant Robinow Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short pal...	ORPHA:3107
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc...	OMIM:309000
Adult Syndrome	Split foot, Toe syndactyly, Finger syndactyly	ORPHA:978
Alstrom Syndrome	Polydactyly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:203800
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Microc...	OMIM:261540
Rapp-Hodgkin Syndrome	Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly	OMIM:129400
Rabson-Mendenhall Syndrome	Polydactyly, Cardiomyopathy	ORPHA:769
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Adducted th...	ORPHA:261537
Limb-Mammary Syndrome	Clinodactyly of the 5th finger, Oligodactyly, Syndactyly, 3-4 finger cutaneous syndactyly, Toe sy...	ORPHA:69085
Fraser Syndrome 3	Hydrocephalus, Cutaneous syndactyly, Short toe	OMIM:617667
Mullegama-Klein-Martinez Syndrome	Microcephaly, Polydactyly, Clinodactyly of the 5th finger	OMIM:301022
Loeys-Dietz Syndrome 2	Dural ectasia, Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arac...	OMIM:610168
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Small pituitary gland, Hypopigmentation of...	ORPHA:739
Tetraamelia Syndrome 1	Hydrocephalus, Microphthalmia, Hypoplastic pelvis	OMIM:273395
Lacrimoauriculodentodigital Syndrome	Hypoplasia of the radius, Corneal neovascularization, Abnormal thumb morphology, Finger syndactyl...	ORPHA:2363
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak	ORPHA:1974
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Microcephaly, Holoprosence...	OMIM:157170
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ...	OMIM:181270
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Telangiectasia of the skin, ...	ORPHA:1556
Eec Syndrome	Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr...	ORPHA:1896
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Syndactyly, Ad...	ORPHA:261552
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f...	OMIM:149730
Treacher-Collins Syndrome	Microphthalmia, Branchial fistula, Encephalocele	ORPHA:861
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of...	ORPHA:2907
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Aqueductal stenosis, Polydactyly, Bidirectional shunt, Aortic re...	OMIM:619534
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Oculocerebrorenal Syndrome Of Lowe	Abnormal metaphysis morphology, Microphthalmia, Genu valgum, Umbilical hernia, Abnormal epiphysis...	ORPHA:534
Coffin-Siris Syndrome 12	Hip subluxation, Macrocephaly, Hippocampal atrophy, Slender finger, Microcephaly, Broad thumb, Ra...	OMIM:619325
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ...	ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Brachydactyl...	OMIM:617088
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Toe...	OMIM:620330
Mowat-Wilson Syndrome	Microphthalmia, Focal white matter lesions, Microcephaly, Pulmonic stenosis, Aortic valve stenosi...	ORPHA:2152
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Syndactyly	ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha...	OMIM:150230
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Umbilical hernia, Short toe, Brachydactyly, Ar...	ORPHA:1519
Loeys-Dietz Syndrome 1	Dural ectasia, Hydrocephalus, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, A...	OMIM:609192
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Cystinosis, Nephropathic	Recurrent corneal erosions, Hypopigmentation of hair, Hypopigmentation of the skin, Corneal cryst...	OMIM:219800
Proteus Syndrome	Macrodactyly, Macrocephaly, Sirenomelia, Abnormality of the wrist, Clinodactyly of the 5th finger...	ORPHA:744
Bardet-Biedl Syndrome	Finger syndactyly, Hypertension, Cardiomyopathy, Postaxial polydactyly, Syndactyly, Brachydactyly...	ORPHA:110
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Mowat-Wilson Syndrome	Hypoplasia of the corpus callosum, Microphthalmia, Aplasia/Hypoplasia of the cerebral white matte...	OMIM:235730
Alkaptonuria	Hemolytic anemia, Methemoglobinemia	ORPHA:56
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Microcephaly, Cerebral co...	ORPHA:649
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Palmoplantar keratoderma, Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:1071
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short...	ORPHA:2908
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Pachygyria	ORPHA:2136
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

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 Zc3h11a

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Zc3h11a.

No publications found that use IMPC mice or data for Zc3h11a.

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MGI Allele	Allele Type	Produced
Zc3h11a^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Zc3h11a MGI:1917829

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

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X-ray

Human diseases caused by Zc3h11a mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data