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Gene: Xpo5 MGI:1913789

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Gene Summary

Name:
exportin 5
Synonyms:
Exp5,  2700038C24Rik,  2410004H11Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
microphthalmia Xpo5em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Xpo5em1(IMPC)Mbp HOM   Early adult 0.00
syndactyly Xpo5em1(IMPC)Mbp HET E15.5 0.00
abnormal ovary morphology Xpo5em1(IMPC)Mbp HET Late adult 0.00
microcephaly Xpo5em1(IMPC)Mbp HET E15.5 0.00
anophthalmia Xpo5em1(IMPC)Mbp HET E15.5 0.00
embryonic lethality prior to organogenesis Xpo5em1(IMPC)Mbp HOM   E9.5 0.00
abnormal eye morphology Xpo5em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Xpo5em1(IMPC)Mbp HET E15.5 0.00
enlarged ovary Xpo5em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Xpo5em1(IMPC)Mbp HET Late adult 0.00
spina bifida Xpo5em1(IMPC)Mbp HET E15.5 0.00
abnormal skin morphology Xpo5em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Xpo5em1(IMPC)Mbp HET Late adult 0.00
polydactyly Xpo5em1(IMPC)Mbp HET E15.5 0.00
prenatal lethality prior to heart atrial septation Xpo5em1(IMPC)Mbp HOM   E15.5 0.00
hemorrhage Xpo5em1(IMPC)Mbp HET E15.5 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.

X-ray

XRay Images Whole Body Dorso Ventral

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Xpo5 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.

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

The table below shows human diseases predicted to be associated to Xpo5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia OMIM:233270
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... OMIM:615938
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Spinal Muscular Atrophy With Impaired Intellectual Development
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... ORPHA:64754
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Meckel Syndrome, Type 8
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... OMIM:613885
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... OMIM:251255
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Mmep Syndrome
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Micromelia, Microphthalmia ORPHA:291
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... OMIM:600384
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphtha... OMIM:616570
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... OMIM:164180
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... OMIM:102510
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... ORPHA:945
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... OMIM:211960
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... ORPHA:139471
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... OMIM:610140
Humero-Radial Synostosis
Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcephaly, Elbow... ORPHA:3265
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... ORPHA:3268
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Agenesis of cerebellar vermis, Occipital encephalocele OMIM:213010
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia OMIM:614082
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... OMIM:603194
Joubert Syndrome 22
Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus callosum, 2-3 toe... OMIM:615665
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... OMIM:611134
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Seckel Syndrome 2
Basal ganglia calcification, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microcephaly,... OMIM:606744
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... OMIM:613155
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... ORPHA:2839
Lissencephaly 8
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:617255
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Mi... OMIM:602501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... ORPHA:166024
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger ORPHA:391646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Hydrolethalus
Micromelia, Absent septum pellucidum, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, P... ORPHA:2189
Septooptic Dysplasia
Optic disc hypoplasia, Short finger, Absent septum pellucidum, Polydactyly, Agenesis of corpus ca... OMIM:182230
Schisis Association
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Bardet-Biedl Syndrome 22
Microcephaly, Postaxial foot polydactyly, Macrocephaly, Polydactyly OMIM:617119
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly, Spinal dysraphism ORPHA:1114
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu... ORPHA:1327
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Talipes equinovarus, Microcephal... OMIM:616171
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia OMIM:614830
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Nanophthalmos
Microphthalmia ORPHA:35612
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... ORPHA:1553
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Xk Aprosencephaly Syndrome
Microphthalmia, Microcephaly, Abnormal morphology of the radius ORPHA:3469
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split... ORPHA:2117
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger OMIM:618725
Temtamy Syndrome
Short toe, Aplasia/Hypoplasia of the corpus callosum, Brachydactyly, Macrocephaly, Microphthalmia... ORPHA:1777
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger... OMIM:136760
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocephalus, Microphthalmia ORPHA:324416
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... ORPHA:1120
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... OMIM:175700
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Ence... ORPHA:1908
Ovarian Fibroma
Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri... ORPHA:314473
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Syndromic 8
Microcephaly, Split foot, Microphthalmia OMIM:601349
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Braddock-Carey Syndrome 2
Microcephaly, Clinodactyly, Microphthalmia OMIM:619981
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidum, Metatarsus ... ORPHA:899
Cofs Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Microcephaly, Aplasia... ORPHA:1466
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand ORPHA:2440
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
17Q12 Microduplication Syndrome
Cortical dysplasia, Toe syndactyly, Finger syndactyly, Microphthalmia ORPHA:261272
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ascites, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati... ORPHA:64739
Hypomelanosis Of Ito
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... OMIM:300337
Trisomy 1Q
Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, Agenesis of cor... ORPHA:261344
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... OMIM:614814
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pulmona... OMIM:300887
Intellectual Developmental Disorder, Autosomal Dominant 72
Microcephaly, Broad palm, Spina bifida, Macrocephaly OMIM:620439
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... OMIM:619091
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the pons, Hypoplasia of the corpus callosum ORPHA:411986
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Macrocephaly, Abnormal meta... ORPHA:3219
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the corpus callosu... OMIM:600118
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Microcephaly, Hydrocephalus, Microphthalmia, Tethered cord OMIM:617244
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Polymicrog... OMIM:601707
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Arachnodactyly, Micro... OMIM:600325
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... ORPHA:2869
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Solitary Median Maxillary Central Incisor
Microcephaly, Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... OMIM:251270
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Microcephaly, Spina bifida, Rocker bott... OMIM:616038
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:615181
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... OMIM:207950
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Pierpont Syndrome
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Excessive wrinklin... ORPHA:487825
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hypoplasia of the cor... OMIM:603387
Periventricular Nodular Heterotopia 1
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral he... OMIM:300049
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Microphthalmia, Syndromic 13
Microcephaly, Microphthalmia OMIM:300915
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries,... ORPHA:2298
Trisomy 13
Abnormal pelvic girdle bone morphology, Ectrodactyly, Anophthalmia, Bilateral single transverse p... ORPHA:3378
Joubert Syndrome 16
Encephalocele, Dandy-Walker malformation, Polydactyly OMIM:614465
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Microcephaly, Microphthalmia, Camptodactyly, Thin corpus ... OMIM:619694
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:613153
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Mac... ORPHA:3210
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Adams-Oliver Syndrome 2
Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single transverse palmar crease, Cereb... OMIM:614219
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g... ORPHA:785
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Microcephaly, Deep palmar crease, Broad palm, ... OMIM:602342
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly ORPHA:77298
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Agenesis of corpus cal... ORPHA:93267
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Chromosome 17P13.1 Deletion Syndrome
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arachnodactyly, Diffuse c... OMIM:613776
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... OMIM:161200
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Grange Syndrome
Aortic regurgitation, Hypertension, Short palm, Syndactyly ORPHA:79094
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Enlarged ovaries, Increased pineal volume ORPHA:769
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Polymic... OMIM:610758
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy... ORPHA:90796
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Ovarian Fibrothecoma
Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria... ORPHA:314478
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Macrocephaly, Genu valgum, Hypoplasia of the corpus callosum,... OMIM:607131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:615249
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Abnormal cortical gyration, Elbow dislocation, Short thumb, Ectrodactyly, Olig... ORPHA:2538
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Ove... ORPHA:508498
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Mosaic Trisomy 9
Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Talipes equinovarus,... ORPHA:99776
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Agenesis of corpus callosum, Bowing of the long bones, T... OMIM:614815
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, Preaxial hand polydactyly,... ORPHA:564
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Calcification of falx cerebri, Microphthalmia, Po... OMIM:109400
Opitz Gbbb Syndrome
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias ORPHA:2745
Monosomy 5P
Microcephaly, Small hand, Finger syndactyly ORPHA:281
Sclerosteosis
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... ORPHA:3152
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Encephalocele, Pos... OMIM:605627
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Absent hand, Port... ORPHA:974
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Cerebellar hypoplasia... OMIM:614175
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... OMIM:614424
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries OMIM:608709
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Enl... ORPHA:91
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Diabetic Embryopathy
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia of... ORPHA:1926
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Bilateral single tr... ORPHA:264200
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, H... OMIM:251230
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Brachydactyly, Osteolysis involvi... ORPHA:88630
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Cerebral calcification, Microcephaly, Spina bifida, Meningocel... ORPHA:1393
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Cerebral atrophy, Postaxial polydactyly,... OMIM:258860
Congenital Toxoplasmosis
Microcephaly, Cerebral calcification, Hydrocephalus, Microphthalmia ORPHA:858
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Trisomy 18
Deviation of finger, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal... ORPHA:3380
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Tricuspid regurgitation, Umbilical hernia, An... ORPHA:1101
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Finger syndactyly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia ... ORPHA:60040
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Talipes equinovaru... ORPHA:63259
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Microcephaly, Rocker bottom foot, Camptodactyly of finger OMIM:610756
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Bresek Syndrome
Microcephaly, Hydrocephalus, Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia ORPHA:85284
Vacterl With Hydrocephalus
Anophthalmia, Hypoplasia of the radius, Hydrocephalus, Microphthalmia, Spina bifida, Aqueductal s... ORPHA:3412
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Hyperintensity of cerebral white matter on MRI, Finger joint contractu... ORPHA:48431
Bartsocas-Papas Syndrome 2
Microphthalmia, Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly OMIM:619339
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Hypoplasia of the corpus callosum, Ag... OMIM:618142
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Microcephaly, Hypoplastic ischia, Polydactyly OMIM:616910
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Relative macrocephaly, Upper limb asymmetry, Polydactyly ORPHA:231140
Temtamy Syndrome
Aortic regurgitation, Microphthalmia, Agenesis of corpus callosum, Talipes equinovarus, Brachydac... OMIM:218340
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly ORPHA:99742
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Agenesis of corpu... OMIM:256520
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Charlie M Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly ORPHA:1406
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syringomyelia, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly ORPHA:404451
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Polydactyly, Microcephaly, Brachydactyly, Macrocephaly ORPHA:313781
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Temtamy Preaxial Brachydactyly Syndrome
Tibial deviation of the 2nd toe, Abnormally large globe, Clinodactyly of the 2nd finger, Radial d... ORPHA:363417
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... ORPHA:2251
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Basal ganglia calcification, Second met... OMIM:214150
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Hypoplasia of the corpus callosum, Postax... OMIM:615996
Leprechaunism
Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Labial hypertrophy, Enlarged ... ORPHA:508
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly OMIM:620010
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100024
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Sandestig-Stefanova Syndrome
Clinodactyly, Bilateral single transverse palmar creases, Hypoplasia of the corpus callosum, Prim... OMIM:618804
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia ORPHA:195
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Telangiectasia, Microphthalmia, Foot p... OMIM:305600
Holoprosencephaly
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Branchial anomaly, Anophthalmia, En... ORPHA:2162
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachnodactyly, 2-3 f... ORPHA:1692
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... OMIM:614833
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopat... ORPHA:370959
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Cerebral white matter atrophy,... ORPHA:435638
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia OMIM:613730
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly ORPHA:1445
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Microcephaly, Macrocephaly, Microphth... ORPHA:251038
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Martsolf Syndrome 1
Broad femoral neck, Short toe, Cardiomyopathy, Congestive heart failure, Slender ulna, Avascular ... OMIM:212720
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... ORPHA:93258
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Hydrocephalus, Macrocephaly, Agenesis of cerebellar vermis, Short... ORPHA:59315
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Monosomy 18P
Microcephaly, Brachydactyly, Microphthalmia, Holoprosencephaly, Hypertension ORPHA:1598
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Secondary microcephaly, Microphthalmia, Abnormality of the palmar creases OMIM:618652
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the ulna, Absent radius, Microphthal... ORPHA:1352
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Genu valgum, Encephalocele, Pos... OMIM:611560
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Craniofrontonasal Dysplasia
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the corpus callosum, Down-s... ORPHA:1520
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Hypoplasia of the corpus callosum, Agenesis of corpus ... OMIM:616362
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia OMIM:618805
Warburg Micro Syndrome 2
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Overlapping toe, Hypoplasia of the ... OMIM:614225
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos ORPHA:77299
Holt-Oram Syndrome
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Joubert Syndrome 33
Macrocephaly, Syndactyly OMIM:617767
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc... OMIM:615234
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Baraitser-Winter Syndrome 2
Secondary microcephaly, Agenesis of corpus callosum, Microphthalmia, Pachygyria, Lissencephaly OMIM:614583
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Microphthalmia, Encephalocele... OMIM:614643
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Camptod... ORPHA:391474
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitatio... OMIM:619879
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Micro... ORPHA:2994
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia OMIM:602361
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Relative macrocephaly, Short first metatarsal... OMIM:619135
Congenital Rubella Syndrome
Microcephaly, Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Abno... ORPHA:95699
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Garg-Mishra Progeroid Syndrome
Slender long bone, Slender metacarpals, Secondary microcephaly, Microphthalmia, Broad palm, Coxa ... OMIM:620601
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Syndactyly OMIM:615284
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617914
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Microc... OMIM:619721
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... ORPHA:3447
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb ORPHA:1825
Fanconi Anemia, Complementation Group S
Microcephaly, Proximal placement of thumb, Clinodactyly, Microphthalmia OMIM:617883
Hallermann-Streiff Syndrome
Slender long bone, Telangiectasia, Microcephaly, Abnormality of the hand, Pulmonary arterial hype... OMIM:234100
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea... OMIM:619148
Rubinstein-Taybi Syndrome 2
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... OMIM:613684
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... ORPHA:175
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Talipes... ORPHA:250989
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, 2-3 toe cutaneous syndactyly, Sandal gap, Broad hallux, Um... OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Microcephaly, Clinodactyly, Syndactyly OMIM:619092
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalocele, Short fo... OMIM:607597
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Limb-Mammary Syndrome
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly OMIM:603543
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... OMIM:114290
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger... ORPHA:251014
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly... ORPHA:84
Developmental And Epileptic Encephalopathy 1
Microcephaly, Global brain atrophy, Microphthalmia OMIM:308350
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatomegaly OMIM:602390
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndacty... OMIM:607932
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, 2-3 toe s... OMIM:264480
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Hypoplasia of the corpus callosum, Single transverse palmar crease, Microcephaly, M... OMIM:614105
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cavum septum pellucidum, Macrocephaly, Microphthalmia, Clinodactyly of the 5th finger, Relative m... OMIM:617306
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... OMIM:605282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Flattened epiph... ORPHA:163649
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical hernia, Abnormal... ORPHA:261318
Neu-Laxova Syndrome
Abnormal cortical gyration, Micromelia, Polymicrogyria, Cerebral calcification, Absent septum pel... ORPHA:2671
Heart And Brain Malformation Syndrome
Hand clenching, Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atrophy, Camptodacty... OMIM:616920
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Stevenson-Carey Syndrome
Joint contracture of the hand, Microphthalmia, Hypoplasia of the corpus callosum, Cerebellar hypo... OMIM:611961
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Rela... ORPHA:397590
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Polydactyly... OMIM:169400
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Ring Chromosome 10 Syndrome
Microphthalmia, Sandal gap, Tapered finger ORPHA:1438
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly, Microphthalmia OMIM:614526
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Joubert Syndrome 37
Postaxial polydactyly, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Microphth... OMIM:619185
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Oculofaciocardiodental Syndrome
Short thumb, Genu valgum, Flexion contracture of the 4th toe, 2-3 toe syndactyly, Radioulnar syno... ORPHA:2712
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial ... OMIM:277170
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Short femur, Preaxial hand polyda... OMIM:134780
Cockayne Syndrome Type 2
Anophthalmia, Subcortical white matter calcifications ORPHA:90322
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous... OMIM:272440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... OMIM:616538
Aicardi Syndrome
Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia, Microcephaly, Spina bifida, Cavum s... OMIM:304050
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Cerebral atrophy, Overlapping toe, ... ORPHA:464738
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Hypoplasia of the brainstem, Single transverse palmar crease, 2-3 toe syndactyly... OMIM:236500
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia ORPHA:3191
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Marden-Walker Syndrome
Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Hypoplasia of the brainstem... OMIM:248700
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:3085
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Ova... ORPHA:400
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Absent septum pellucidum, Agenesis of corpus cal... OMIM:609053
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Jacobsen Syndrome
Aortic valve stenosis, Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Cerebral a... ORPHA:2308
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Agenesis of corpus callosum, Microcephaly, Duplication of phalanx of hallu... OMIM:243310
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Rel... OMIM:617895
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Prominent fingertip pads, Cerebral atrophy, Polymicrogyria, Overlap... OMIM:618494
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Myoclonic-Astatic Epilepsy
Microphthalmia, Microcephaly, Syndactyly ORPHA:1942
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... OMIM:217085
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... ORPHA:848
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Holoprosencephaly, Anophthalmia, Microcepha... OMIM:610829
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... OMIM:146510
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Spinal dysraphism, Mitral stenosis, Microcephaly, Tethered cord OMIM:617660
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, Syndactyly OMIM:239710
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Cloacal Exstrophy
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... OMIM:101600
Amyloidosis, Hereditary Systemic 2
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia OMIM:257910
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Oculo-Palato-Cerebral Syndrome
Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Fronta... ORPHA:2714
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Brachydactyly, Syndactyly OMIM:616589
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Triploidy
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Macrocephaly, Mening... ORPHA:3376
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:435651
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Tricuspid regurgitation, Clinodactyly... OMIM:620663
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap OMIM:612918
Adams-Oliver Syndrome 1
Aortic valve stenosis, Toe syndactyly, Polymicrogyria, Periventricular leukomalacia, Encephalocel... OMIM:100300
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Microcephaly, Macular hypoplasia, Tapered finger OMIM:613792
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... OMIM:608940
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... OMIM:206900
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Abnormal palmar dermatoglyphics, Microcephaly, Microphthalmia ORPHA:2728
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Single transverse palmar crease, Agenesis of corpus callosum, 2-3 toe syndactyl... OMIM:616449
Cutis Laxa, Autosomal Recessive, Type Iie
Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S... OMIM:619451
Laurence-Moon Syndrome
Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases ORPHA:2377
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Camptodactyly of finger, Polymicrogyria, Overlapping ... OMIM:244300
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Congestive heart failure, Microcephaly, Microphthalmia, Upper limb asymmetry ORPHA:2505
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphthalmia, Holoprosenc... OMIM:612530
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callo... OMIM:614222
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bowing, Absent septum... OMIM:612651
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Epidermolysis Bullosa, Lethal Acantholytic
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... OMIM:609638
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Relative macrocephaly, Hypoplastic pelvis, Encepha... OMIM:616300
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Microcephaly ORPHA:544254
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... OMIM:266200
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Refsum Disease
Abnormal epiphysis morphology, Cardiomyopathy, Short metacarpal, Microphthalmia, Hammertoe, Heart... ORPHA:773
Monosomy 13Q14
Finger syndactyly, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the thumb, Microcepha... ORPHA:1587
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... ORPHA:1515
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia OMIM:619053
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Nance-Horan Syndrome
Short metacarpal, Microphthalmia ORPHA:627
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Relative macrocephaly, Monkey wrench femoral... OMIM:615777
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Aplasia/Hypoplasia of t... ORPHA:568
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Microcephaly, Cutane... OMIM:600987
Phakomatosis Pigmentokeratotica
Arrhythmia, Hemiatrophy, Raynaud phenomenon, Spina bifida ORPHA:2874
Congenital Sialidosis Type 2
Abnormal EKG, Umbilical hernia, Polydactyly, Telangiectasia, Hypoplasia of the fovea, Hydrocephal... ORPHA:93400
Fraser Syndrome 1
Abnormal cortical gyration, Bilateral microphthalmos, Myelomeningocele, Cutaneous finger syndacty... OMIM:219000
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse palmar crease, 2... OMIM:620098
Teebi-Shaltout Syndrome
Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Mi... OMIM:272950
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... OMIM:620662
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly, Microphthalmia OMIM:618727
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... OMIM:212780
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
9Q21.13 Microdeletion Syndrome
Syringomyelia, Hip dysplasia, Aplasia/Hypoplasia of the corpus callosum, Polydactyly ORPHA:531151
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... OMIM:253800
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Stromme Syndrome
Cerebellar vermis hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Cerebellar hypop... OMIM:243605
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia, Short foot, Short palm OMIM:241410
White Forelock With Malformations
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Finger syndactyly, Cerebral calcification, Arachnodactyly, Microcephaly, Short palm ORPHA:73246
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Branchial cyst, Single transverse palmar crease, Microcephaly, Camptodactyly, ... ORPHA:435938
Alkuraya-Kucinskas Syndrome
Hand clenching, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brains... OMIM:617822
Suleiman-El-Hattab Syndrome
Clinodactyly, Single transverse palmar crease, Polydactyly, Microcephaly, Brachydactyly OMIM:618950
Familial Exudative Vitreoretinopathy
Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia, Microphtha... ORPHA:891
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hepatomegaly ORPHA:2348
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... OMIM:613150
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Galloway-Mowat Syndrome 3
Cerebral atrophy, Pachygyria, Hypoplasia of the corpus callosum, Arachnodactyly, Microcephaly, Mi... OMIM:617729
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Cohen Syndrome
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac... ORPHA:193
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal corpus callosum morphology, Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly... ORPHA:3224
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Acrofacial Dysostosis, Catania Type
Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bifida occulta, ... ORPHA:1786
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Hypoplasia of the corp... ORPHA:401973
Methylcobalamin Deficiency Type Cble
Clinodactyly, Hypoplasia of the brainstem, Microcephaly, Abnormal cerebral white matter morpholog... ORPHA:2169
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Congestive heart failure, Camptodactyly of finger, Umbilical herni... ORPHA:915
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the radius, Hypopl... ORPHA:3186
Joubert Syndrome 2
Abnormal corpus callosum morphology, Postaxial foot polydactyly, Hypoplasia of the brainstem, Enc... OMIM:608091
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Acrootoocular Syndrome
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Microce... ORPHA:2980
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Cirrhosis, Pancreatitis, Hepatomegaly ORPHA:79083
Ovarian Dysgenesis 10
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:619834
Cowden Syndrome
Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol... ORPHA:201
Joubert Syndrome 21
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Anophthalmia, Hypoplasia of ... OMIM:615636
Joubert Syndrome 27
Polydactyly OMIM:617120
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Agenesis of corpus callosum, Talipes equinovarus, Dislocated... OMIM:180849
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Cockayne Syndrome Type 1
Basal ganglia calcification, Hypertension, Anophthalmia ORPHA:90321
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microcephaly, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
3Q29 Microdeletion Syndrome
Microcephaly, Pulmonary arterial hypertension, Macrocephaly, Microphthalmia, Clinodactyly of the ... ORPHA:65286
Harderoporphyria
Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Hemolytic anemia OMIM:618892
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Anop... ORPHA:2052
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormality of the hand, Camptodactyly,... ORPHA:369891
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Cholestasis, Ovarian cyst... OMIM:246200
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... OMIM:613573
Pagod Syndrome
Encephalocele, Microcephaly, Arrhythmia, Spina bifida, Meningocele, Sudden cardiac death ORPHA:991
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Cerebellar hypoplasia, Microcephaly, Clinodactyly, Syndactyly OMIM:618087
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... ORPHA:166119
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... ORPHA:2334
Skin Creases, Congenital Symmetric Circumferential, 1
Hypoplasia of the corpus callosum, Microcephaly, Long fingers, Microphthalmia, Dandy-Walker malfo... OMIM:156610
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology ORPHA:435660
Oculodentodigital Dysplasia
Clinodactyly, 3-4 toe syndactyly, Basal ganglia calcification, Joint contracture of the 5th finge... OMIM:164200
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo... OMIM:257850
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta... ORPHA:824
Nance-Horan Syndrome
Short phalanx of finger, Broad finger, Microphthalmia OMIM:302350
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Corneal neovascularization, A... ORPHA:567
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
ERI1-related disease
Tricuspid regurgitation, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limit... OMIM:608739
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... OMIM:613001
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Agenesis of corpus callosum, Aplasia of the distal p... ORPHA:3472
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Neurofibromatosis, Type I
Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Macrocephaly, Aqueductal stenosi... OMIM:162200
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Anophthalmia, Polydactyly, Microcephaly... ORPHA:138
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Hemochromatosis, Type 1
Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Ci... OMIM:235200
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... ORPHA:93259
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum ORPHA:228390
Koolen-De Vries Syndrome Due To A Point Mutation
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Hand muscle atrophy, Agenesis of corpus ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Hand muscle atrophy, Agenesis of corpus ... ORPHA:363958
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hepatic st... ORPHA:528
Tarp Syndrome
Cerebellar vermis hypoplasia, Subdural hemorrhage, Clinodactyly, Single transverse palmar crease,... OMIM:311900
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Preeclampsia
Abnormality of the hepatic vasculature, Thrombocytopenia, Polycystic ovaries ORPHA:275555
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Bilateral single transverse palm... ORPHA:1001
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Microcephaly, 2-3 finger syndactyly, Hypoplasia of the radius, Microph... OMIM:603467
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Toe clinodactyly, Finger syndactyly, Sandal gap, Mitral regurgitation, Hypo... ORPHA:254346
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda... ORPHA:710
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Incontinentia Pigmenti
Cerebral cortical atrophy, Deviation of finger, Finger syndactyly, Congestive heart failure, Camp... ORPHA:464
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of the olfactory bulb, Anophthalmia, Microphthalmia ORPHA:2250
Galloway-Mowat Syndrome 1
Hand clenching, Joint contracture of the hand, Slender finger, Cerebral atrophy, Pachygyria, Seco... OMIM:251300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Microcephaly, Brachyd... OMIM:614701
Rothmund-Thomson Syndrome, Type 3
Short distal phalanx of finger, Hypoplasia of the corpus callosum, Talipes equinovarus, Microceph... OMIM:615789
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p... ORPHA:1234
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l... ORPHA:2256
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Microcephaly, Brac... ORPHA:1005
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Silver-Russell Syndrome 3
Relative macrocephaly, Clinodactyly of the 5th finger, Small hand, Syndactyly OMIM:616489
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb, Macrocephaly OMIM:618874
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Finger clinodactyly, Preaxial polydactyly, Aplasia/Hypoplasia of th... ORPHA:2754
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... ORPHA:3258
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:603909
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... ORPHA:2166
Mend Syndrome
Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s... OMIM:300960
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Broad thumb, Camptodactyly of finger, Bilateral single transverse palmar creases, Microcephaly, M... ORPHA:1236
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Aplasia/Hypoplasia... ORPHA:1647
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly OMIM:149000
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat... OMIM:142900
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis OMIM:601186
Oliver Syndrome
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... ORPHA:2920
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Polycystic ovaries OMIM:604367
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:615724
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Arachnodactyly, Bowing of the long bones, Microcephaly, Pulmonary arteri... OMIM:614437
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Joubert Syndrome 39
Postaxial polydactyly, Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture o... OMIM:619562
Frontofacionasal Dysplasia
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Microphthalmia ORPHA:1791
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of finger, Abnormal m... ORPHA:284160
Goldberg-Shprintzen Megacolon Syndrome
Pachygyria, Microcephaly, Finger syndactyly, Hypoplasia of the corpus callosum ORPHA:66629
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Cone-shaped epiphysis, Open op... ORPHA:397715
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Microcephaly, Simplified gyral pattern OMIM:152950
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Hydrocephalus, Dandy-Walker malformation, Syndactyly OMIM:220210
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Microcephaly, Macrocephaly, Spina b... ORPHA:2311
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Polymicrogyria... OMIM:616546
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Sma... ORPHA:96334
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase... ORPHA:231222
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Brachydactyly, Split hand, Finger syndactyly ORPHA:2145
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthal... OMIM:615663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:236670
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Polycystic ovari... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Cerebral atrophy, Hypoplasia of the corpus callosum, Postaxial polyda... OMIM:614576
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Ventricular tac... OMIM:300952
Wolman Disease
Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Waardenburg Syndrome, Type 1
Myelomeningocele, Hypoplastic iris stroma, Spina bifida OMIM:193500
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... OMIM:600145
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly... ORPHA:744
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Pancytopenia, Hepatosplenomegaly,... OMIM:606003
Fanconi Anemia, Complementation Group N
Absent thumb, Short thumb, Microcephaly, Hypoplasia of the radius, Microphthalmia OMIM:610832
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Filippi Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Micro... ORPHA:3255
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Clinodactyly, Cardiomyopathy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, B... OMIM:217980
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Microcephaly, Absent radius, Microphthalmia, Complete duplication of t... OMIM:600901
Orofaciodigital Syndrome I
Abnormal cortical gyration, Clinodactyly, Radial deviation of finger, Cerebral atrophy, Myelomeni... OMIM:311200
Chromosome 8Q21.11 Deletion Syndrome
Hypoplasia of the corpus callosum, Syndactyly, Microphthalmia, Camptodactyly, Short metacarpal, A... OMIM:614230
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti... OMIM:301078
Atelis Syndrome 2
Clinodactyly, Single transverse palmar crease, Microcephaly, Vitreous hemorrhage, Microphthalmia,... OMIM:620185
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Hip dysplasia ORPHA:494344
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Ovarian cyst OMIM:610475
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Kbg Syndrome
Microcephaly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly ORPHA:2332
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndac... ORPHA:158687
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 2-5 finge... ORPHA:468631
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Hypop... OMIM:227646
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Splenomegaly, Polycystic ovaries, Anemia, Cirrhosis, Hepatomegaly, Hepatocellul... ORPHA:79240
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Midline brain calcifications, Pachygyria, Single transverse palmar... OMIM:247200
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia OMIM:193220
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Hydrocephalus, Microphthalm... ORPHA:3301
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Rubinstein-Taybi Syndrome
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M... ORPHA:783
Acrocardiofacial Syndrome
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Mitral ste... ORPHA:2008
Fetal Alcohol Syndrome
Microcephaly, Biparietal narrowing, Microphthalmia ORPHA:1915
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Charge Syndrome
Bifid femur, Short thumb, Umbilical hernia, Unilateral microphthalmos, Microphthalmia, Anophthalm... OMIM:214800
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria OMIM:612379
Apert Syndrome
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... OMIM:101200
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Meckel Syndrome, Type 1
Cerebral hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial de... OMIM:249000
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous synda... OMIM:601005
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly OMIM:235555
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia... OMIM:184705
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Syndactyly OMIM:616006
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Microcephaly, Absent radius, Microphthalmia, Complete duplication of t... OMIM:227650
Mccune-Albright Syndrome
Precocious puberty, Bone marrow hypocellularity, Hepatitis, Increased circulating prolactin conce... ORPHA:562
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Estrogen Resistance
Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia involving... OMIM:308050
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Bohring-Opitz Syndrome
Short toe, Hypoplasia of the brainstem, Overlapping toe, Mesomelic/rhizomelic limb shortening, Hy... OMIM:605039
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Omenn Syndrome
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden... OMIM:603554
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Foot polydactyly, Short palm ORPHA:268249
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cerebral cortical atrophy, Abnormal cortical gyration, Cessation of head growth, Single transvers... OMIM:617527
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Micro Syndrome
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... ORPHA:2510
Myhre Syndrome
Aortic valve stenosis, Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger, Radial devia... OMIM:139210
Adams-Oliver Syndrome 5
Umbilical hernia, Pulmonary arterial hypertension, Brachydactyly, Pulmonic stenosis, Syndactyly OMIM:616028
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidi... ORPHA:1655
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Partial agenesis of the corpus callosum, Microcephaly, Microphthalmia OMIM:234050
Kenny-Caffey Syndrome, Type 2
Basal ganglia calcification, Macrocephaly, Abnormality of the medullary cavity of the long bones,... OMIM:127000
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasi... ORPHA:306542
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Macrocephaly, Calcification of falx cerebri, Polydactyly, Hydrocep... ORPHA:77301
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni... ORPHA:457077
Peutz-Jeghers Syndrome
Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnormality, Iron deficiency anemi... OMIM:175200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Aarskog-Scott Syndrome
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd... OMIM:305400
Xeroderma Pigmentosum, Complementation Group D
Telangiectasia, Microcephaly, Corneal neovascularization, Microphthalmia OMIM:278730
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... OMIM:607765
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Tibial bowing, Flexion contracture of finger, ... OMIM:601812
Budd-Chiari Syndrome
Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ... ORPHA:131
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle phalanx of t... OMIM:180860
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Absent septum pellucidum, Single transverse palmar crease, Histio... OMIM:309801
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Macrocephaly, Postaxial polydactyly, Brac... OMIM:209900
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta, Short 4th metacarpal, Small hand, Finger syndactyly ORPHA:1787
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Partial agenesis of the corpus callosum, Thin corpus callosum, Tethered cord, Taper... OMIM:619480
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydact... OMIM:614099
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microcephaly, Anophthalmia, Microphthalmia ORPHA:2526
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... ORPHA:1517
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the h... OMIM:151050
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Polycystic ova... ORPHA:90795
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Macrocephaly OMIM:618316
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Inferior cerebellar vermis hypoplasia, Microphthalmia OMIM:618571
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Microcephaly, Cl... ORPHA:217346
Kury-Isidor Syndrome
Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima... OMIM:619762
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Umb... ORPHA:93932
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Cerebral atrophy, Umbilical hernia, Single transverse palm... ORPHA:404448
Jacobsen Syndrome
Macrocephaly, Microcephaly, Macular hypoplasia, Brachydactyly, Hydrocephalus, Microphthalmia, Cli... OMIM:147791
Ring Chromosome 12 Syndrome
Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Microcephaly, Syndactyly ORPHA:1439
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Aqueducta... ORPHA:93260
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Abnormal hip bone morphology, Hand polydactyly, Aplasia... ORPHA:7
Proboscis Lateralis
Abnormal corpus callosum morphology, Macrocephaly, Anophthalmia, Microphthalmia, Holoprosencephal... ORPHA:141099
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Branchial anomaly, Anophthalmi... OMIM:113620
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Lissencephaly, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Polymicrogyria, Preaxi... ORPHA:2211
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Cowden Syndrome 1
Varicocele, Goiter, Lymphopenia, Ovarian carcinoma, Ovarian cyst, Hydrocele testis OMIM:158350
Oculodentodigital Dysplasia
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... ORPHA:2710
Cri-Du-Chat Syndrome
Single transverse palmar crease, Microcephaly, Metatarsus adductus, Short metatarsal, Short metac... OMIM:123450
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Overlapping toe, Absent septum pellucidum, Hypoplasia of the corpus callosum, S... OMIM:613884
Exudative Vitreoretinopathy 2, X-Linked
Retinal neovascularization, Microphthalmia OMIM:305390
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Agenesi... OMIM:210710
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Caudal appendage, Hypoplasia of the corpus callosum, Agenesis of co... ORPHA:314679
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Microphthalmia, Pachygyria, Polymicrogyria ORPHA:2328
8Q22.1 Microdeletion Syndrome
Sandal gap, Microcephaly, Finger syndactyly, Camptodactyly of finger ORPHA:178303
Frontonasal Dysplasia 2
Cerebellar vermis hypoplasia, Encephalocele, Hypoplasia of the corpus callosum, Microcephaly, Mic... OMIM:613451
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Rig... OMIM:268310
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... OMIM:603671
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Aplasia/Hypoplasia of the cere... ORPHA:2612
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Abnormality of the lymphatic system ORPHA:276280
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Preaxial hand polydactyly, Upper limb undergrowth, Absent septum pell... OMIM:236680
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat... OMIM:305450
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Toe syndactyly, Hypoplasi... ORPHA:464306
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Microcephaly, Brachydactyly, Microphthalmia, Aplasi... ORPHA:364577
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial polydacty... ORPHA:457284
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... ORPHA:2911
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Agenesis of corpus callosum, Postaxial polydactyly, Micro... OMIM:174300
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Microcephaly, Absent radius, Microphthalmia, Complete duplication of t... OMIM:227645
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Clinodactyly, Tricuspid regurgitation, Postaxial polydactyly, Micro... OMIM:618460
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... OMIM:610828
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Talipes equinovarus, Neonatal epiphyseal stippling, Microphthalmia, Hip dis... ORPHA:35173
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... OMIM:609049
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly OMIM:614800
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Microphthalmia, Syndromic 1
Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger... OMIM:309800
Ohdo Syndrome, X-Linked
Short thumb, Clinodactyly, Overlapping toe, Long thumb, Ulnar deviation of the hand, Hip dysplasi... OMIM:300895
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Hypoplasia of the pons, Cerebral atrophy, Syndactyly OMIM:616430
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Hyperparathyroidism, Enlarged kidney, Ovarian cyst OMIM:618188
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger ORPHA:246
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Cutaneous syn... OMIM:620029
Xeroderma Pigmentosum, Complementation Group B
Basal ganglia calcification, Microcephaly, Microphthalmia OMIM:610651
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Rodrigues Blindness
Microphthalmia OMIM:268320
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Grange Syndrome
Renovascular hypertension, Brachydactyly, Finger clinodactyly, Syndactyly OMIM:602531
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... OMIM:607626
Acquired Generalized Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hepatomegaly, Acute pancreatitis ORPHA:79086
Hallermann-Streiff Syndrome
Small hand, Congestive heart failure, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Clinod... ORPHA:2108
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Aplasia/Hypoplasia... ORPHA:1052
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short metacarpal OMIM:201180
Skin Creases, Congenital Symmetric Circumferential, 2
Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcephaly, Long fingers, Microphthalmia... OMIM:616734
Cowden Syndrome 6
Varicocele, Hydrocele testis, Ovarian cyst, Goiter OMIM:615109
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Short sternum, Large hands, Macrocephaly, Congenital ps... ORPHA:2563
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Postaxial polydactyly,... OMIM:300968
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Ci... OMIM:608594
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Polymicrogyria, Umbilical hernia, Syndactyly OMIM:614520
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
X Small Rings
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, 2-3 toe syndacty... ORPHA:96201
Kinsship Syndrome
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Microcephaly, Coxa valga, Prima... OMIM:619297
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Apert Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Absent septum pellucidum, Agenesis of... ORPHA:87
Hamamy Syndrome
Prolonged QRS complex, Mitral regurgitation, Down-sloping shoulders, Long toe, Tapered finger, Lo... OMIM:611174
Fryns Syndrome
Short distal phalanx of finger, Cerebral cortical atrophy, Agenesis of corpus callosum, Microphth... ORPHA:2059
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hepatomegaly ORPHA:280365
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Polydactyly, Microcephaly, Cavum... OMIM:619869
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narrow greater scia... OMIM:617925
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the pons, Macrocepha... OMIM:616975
Constricting Bands, Congenital
Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly OMIM:217100
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi... OMIM:263650
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Ci... OMIM:269700
Cockayne Syndrome B
Square pelvis bone, Cerebral atrophy, Hypoplasia of the iris, Hypoplastic iliac wing, Basal gangl... OMIM:133540
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Bilateral tali... OMIM:614083
Tarp Syndrome
Abnormal corpus callosum morphology, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radi... ORPHA:2886
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl... ORPHA:288
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos ORPHA:91495
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Hydrocephalus OMIM:219730
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of f... OMIM:618164
Legius Syndrome
Polydactyly, Paroxysmal atrial tachycardia, Macrocephaly, Clinodactyly of the 5th finger, Pulmoni... ORPHA:137605
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia OMIM:221900
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Aicardi Syndrome
Small hand, Polymicrogyria, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the cerebellum, H... ORPHA:50
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Split ... ORPHA:958
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Short finger, Microcephaly, Short digit, Microphtha... OMIM:608670
Dubowitz Syndrome
Hypoplasia of the iris, Single transverse palmar crease, Microcephaly, Microphthalmia, Clinodacty... OMIM:223370
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Small hand, Portal hypertension, Microcephaly, Pulmonary arterial hypertension, Hip dysplasia, Mi... OMIM:620005
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Kbg Syndrome
Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, M... OMIM:148050
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Aplasia... OMIM:200990
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Microcephaly, Microphthalmia OMIM:601675
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... ORPHA:989
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Tricuspid regurgitation, Brachydactyly, Macrocephaly, Camptodactyly, S... OMIM:616894
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Short thumb, Telangiectasia, Talipes equinovarus, Forearm... OMIM:268400
Short Syndrome
Ovarian cyst OMIM:269880
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... ORPHA:570
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly OMIM:619471
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar... ORPHA:2215
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Hydrocephalus, Syndactyly OMIM:104350
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Pili Torti-Onychodysplasia Syndrome
Cutaneous syndactyly, Palmoplantar keratoderma ORPHA:2890
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cerebellar vermis hypoplasia, Cavum septum pellucidum, Secondary microcephaly, Umbilical hernia, ... OMIM:620654
Monosomy 9P
Abnormality of the tarsal bones, Bilateral single transverse palmar creases, Agenesis of corpus c... ORPHA:261112
Choanal Atresia
Polydactyly ORPHA:137914
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Pulmonary arterial hypertension, Macr... OMIM:620025
Hartsfield Syndrome
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Agenesis of corpus callosum,... OMIM:615465
Townes-Brocks Syndrome 1
Broad thumb, Tethered cord, Preaxial hand polydactyly, 3-4 toe syndactyly, Umbilical hernia, Pseu... OMIM:107480
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Acute pancreatitis OMIM:151660
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Orofaciodigital Syndrome Type 1
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... ORPHA:2750
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Hypoplasia of the corpus callosum, Ara... OMIM:613406
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome... OMIM:263200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Leukoencephalopathy, Cerebral atrophy, Hypertrophic cardiomyopathy, Short humerus, Polydactyly, M... ORPHA:17
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h... ORPHA:567983
Fryns Syndrome
Short distal phalanx of finger, Joint contracture of the hand, Short thumb, Prominent fingertip p... OMIM:229850
Traboulsi Syndrome
Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia OMIM:601552
Isolated Biliary Atresia
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n... ORPHA:30391
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Phace Association
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia OMIM:606519
8Q24.3 Microdeletion Syndrome
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Short hallux, Short 5t... ORPHA:508488
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcephaly, Microphthalmia OMIM:110100
Osteoporosis-Pseudoglioma Syndrome
Tibial bowing, Phthisis bulbi, Microcephaly, Metaphyseal widening, Microphthalmia OMIM:259770
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calcification, Stenosis of the me... ORPHA:93325
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de... OMIM:269500
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Syringomyelia, Deep palmar crease, Lipomyelomeningocele, ... OMIM:616580
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Absent septum pellucidum, Agenesis of corpus callosum, Abnormal digit morphology, Po... ORPHA:95494
Cat Eye Syndrome
Microphthalmia, Umbilical hernia, Pulmonic stenosis, Absent radius OMIM:115470
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El... ORPHA:1507
Multiple Pterygium Syndrome, Escobar Variant
Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping... OMIM:265000
Oculoauricular Syndrome
Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia OMIM:612109
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Microcephaly, Hand polydactyly, Clinodac... OMIM:210900
Craniofacial Microsomia 1
Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, An... OMIM:164210
Okamoto Syndrome
Aortic valve stenosis, Abnormally large globe, Hypoplasia of the corpus callosum, Polydactyly, Sy... ORPHA:2729
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Microcephaly, Spina bifida occulta,... ORPHA:2990
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Holoprosencephaly 1
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo... OMIM:236100
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233710
Fraser Syndrome 2
Cutaneous syndactyly, Microphthalmia OMIM:617666
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broa... OMIM:612474
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Agenesis of cor... OMIM:619488
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Polymi... OMIM:615948
Roberts-Sc Phocomelia Syndrome
Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexion contracture... OMIM:268300
Faciocardiomelic Syndrome
Microcephaly, Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Finger syndactyly, Absent septum pellucidum, Agenesis of corpus callosum, Abno... ORPHA:2658
Stolerman Neurodevelopmental Syndrome
Clinodactyly of the 5th finger, Broad palm, Syndactyly OMIM:618505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... OMIM:253280
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla... OMIM:263750
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Short 5th toe, 2-4 toe cu... ORPHA:268261
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ... ORPHA:794
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Macrocephaly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, H... OMIM:613610
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Tricuspid regurgitation, Umbilical hernia, Cutaneous finger sy... OMIM:614976
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Toe syndactyly, Broad thumb, Finger syndactyly, Cardiomyopathy, Short... ORPHA:373
Helsmoortel-Van Der Aa Syndrome
Small hand, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad hallux, Genu valgum, Clino... OMIM:615873
Trichothiodystrophy
Cerebral cortical atrophy, Cardiomyopathy, Bilateral microphthalmos, Umbilical hernia, Periventri... ORPHA:33364
Incontinentia Pigmenti
Retinal hemorrhage, Microcephaly, Hypoplasia of the fovea, Microphthalmia OMIM:308300
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg... OMIM:233690
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos... ORPHA:2473
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly OMIM:238600
Phace Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, ... ORPHA:42775
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Preaxial polydactyly ORPHA:163681
Neuroocular Syndrome 1
Prominent fingertip pads, Tibial torsion, Umbilical hernia, Periventricular leukomalacia, Hypopla... OMIM:619539
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Cerebellar vermis hypoplasia, Umbilical hernia, Tricuspid regurgi... OMIM:612289
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, H... OMIM:216340
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Relative macrocephaly, N... ORPHA:96182
Prader-Willi Syndrome
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac... OMIM:176270
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Basal ganglia calcification, Subcortical white matter calcif... ORPHA:90324
Hyperlipoproteinemia, Type Id
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly OMIM:615947
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Abnormal corpus callosum morphology, Broad distal phalanx of finger, Broad... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Abnormal corpus callosum morphology, Broad distal phalanx of finger, Broad... ORPHA:353277
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Hepatic steatosis, Polycystic ovaries, Increased hepatic g... ORPHA:79259
Fibrous Dysplasia Of Bone
Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon... ORPHA:249
Townes-Brocks Syndrome
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Preaxial hand polydacty... ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Leukoencephalopathy, Focal cortical dysplasia, Hypoplasia of the iris, Ischemic stroke, Microphth... OMIM:175780
Monosomy 22
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clinodactyly of the 5th finger,... ORPHA:96123
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Papillorenal Syndrome
Hypertension, Microphthalmia OMIM:120330
Renpenning Syndrome 1
Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac... OMIM:309500
Mosaic Trisomy 16
Short forearm, Short thumb, Clinodactyly, Large placenta, Single transverse palmar crease, Short ... ORPHA:1708
Lymphedema-Distichiasis Syndrome
Arrhythmia, Microphthalmia OMIM:153400
Exstrophy-Epispadias Complex
Microcephaly, Hydrocephalus, Spina bifida ORPHA:322
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial poly... ORPHA:352665
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma... ORPHA:3253
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Agenesis of corpus callosum, Talipes equinovarus, Arrhythmia, 2-3 finger syndactyly,... OMIM:312870
Faciodigitogenital Syndrome, Autosomal Recessive
Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f... OMIM:227330
Cockayne Syndrome
Abnormal epiphysis morphology, Cerebral atrophy, Basal ganglia calcification, Cerebral calcificat... ORPHA:191
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Split hand, Finger syndactyly ORPHA:1300
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Finger syndactyly, Micromelia, Preaxi... ORPHA:2753
Robinow Syndrome
Mesomelia, Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Bifid distal... ORPHA:97360
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Abnormal cortical gyration, Cerebellar ve... ORPHA:480880
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Broad hallux, Clinodactyly, Branchial cyst, Single transverse palmar crease, Pulmonary arterial h... OMIM:620186
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly OMIM:236700
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Macrocephaly, Avascula... ORPHA:3107
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Perivent... OMIM:309000
Adult Syndrome
Toe syndactyly, Finger syndactyly, Split foot ORPHA:978
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Hepatic steatosis, Parathyroi... OMIM:188400
Alstrom Syndrome
Polydactyly, Dilated cardiomyopathy, Hypertension, Congestive heart failure OMIM:203800
Peters-Plus Syndrome
Square pelvis bone, Limited elbow movement, Agenesis of corpus callosum, Short foot, Short metaca... OMIM:261540
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly OMIM:129400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Secondary microcephaly, Long hallux, Genu valgum, Hypoplasia of the corpus... ORPHA:261537
Limb-Mammary Syndrome
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... ORPHA:69085
Fraser Syndrome 3
Hydrocephalus, Cutaneous syndactyly, Short toe OMIM:617667
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Microcephaly, Polydactyly OMIM:301022
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Dural ectasia, Umbilical hernia, Absent distal phalanges, Arachnod... OMIM:610168
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... OMIM:201750
Tetraamelia Syndrome 1
Hypoplastic pelvis, Hydrocephalus, Microphthalmia OMIM:273395
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Corneal neovasculariz... ORPHA:2363
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst... ORPHA:572333
Scalp-Ear-Nipple Syndrome
Broad thumb, Finger syndactyly, Congestive heart failure, Supraventricular tachycardia, 2-3 toe s... OMIM:181270
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy... OMIM:157170
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Finger syndactyly, Telangiectasia of the skin, Short lower limbs, Abnormality of ... ORPHA:1556
Eec Syndrome
Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Pro... ORPHA:1896
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hypoplastic anterior commissure, Hyphema, Secondary microcephaly, Long hal... ORPHA:261552
Isolated Arrhinia
Microphthalmia ORPHA:1134
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... OMIM:149730
Treacher-Collins Syndrome
Branchial fistula, Encephalocele, Microphthalmia ORPHA:861
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... ORPHA:2907
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Broad thumb, Frontotemporal cerebral atrophy, Tricuspi... OMIM:619534
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Bardet-Biedl Syndrome
Hepatic fibrosis, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreased tes... ORPHA:110
Coffin-Siris Syndrome 12
Slender finger, Broad thumb, Short thumb, Hippocampal atrophy, Radioulnar synostosis, Microcephal... OMIM:619325
Oculocerebrorenal Syndrome Of Lowe
Abnormal epiphysis morphology, Umbilical hernia, Genu valgum, Microphthalmia, Buphthalmos, Abnorm... ORPHA:534
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th finger, Short foot ORPHA:1974
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Polymicrogyria, Sirenomelia, Aplasia/Hypoplasia... ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... OMIM:617088
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Cerebellar vermis hypoplasia, Sandal gap, Umbilical hernia, Microcephaly, Cutan... OMIM:620330
Mowat-Wilson Syndrome
Aortic valve stenosis, Genu valgum, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... ORPHA:2152
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii
2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the... OMIM:150230
Specc1L-Related Hypertelorism Syndrome
Short toe, Finger syndactyly, Umbilical hernia, Arrhythmia, Brachydactyly, Clinodactyly of the 5t... ORPHA:1519
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hepatic... ORPHA:99413
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hepatic... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hepatic... ORPHA:99226
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Abnormality of the ovary, Hepatic... ORPHA:881
Loeys-Dietz Syndrome 1
Dural ectasia, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxi... OMIM:609192
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Mowat-Wilson Syndrome
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Hypoplasia ... OMIM:235730
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Norrie Disease
Cerebral cortical atrophy, Hypoplasia of the iris, Microcephaly, Aplasia/Hypoplasia of the cerebe... ORPHA:649
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly ORPHA:1071
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short... ORPHA:2908
Hennekam Syndrome
Pachygyria, Finger syndactyly, Camptodactyly of finger ORPHA:2136
Williams Syndrome
Precocious puberty, Cholelithiasis, Cryptorchidism, Polycystic ovaries, Cardiomegaly, Hypogonadot... ORPHA:904
Alström Syndrome
Testicular fibrosis, Hepatic fibrosis, Precocious puberty in females, Hepatitis, Hypoplasia of th... ORPHA:64
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 Xpo5

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 Xpo5.

No publications found that use IMPC mice or data for Xpo5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Xpo5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Xpo5em1(IMPC)Mbp Exon Deletion Mice, Tissue
Xpo5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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