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Gene: Gabpa MGI:95610

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Gene Summary

Name:
GA repeat binding protein, alpha
Synonyms:
GABPalpha

Order Alleles

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
preweaning lethality, complete penetrance Gabpaem2(IMPC)Mbp HOM   Early adult 0.00
abnormal ear morphology Gabpaem2(IMPC)Mbp HOM E12.5 0.00
microcephaly Gabpaem2(IMPC)Mbp HOM E15.5 0.00
syndactyly Gabpaem2(IMPC)Mbp HET E15.5 0.00
syndactyly Gabpaem2(IMPC)Mbp HOM E15.5 0.00
increased circulating bilirubin level Gabpaem2(IMPC)Mbp HET Early adult 1.24×10-07
polydactyly Gabpaem2(IMPC)Mbp HET E15.5 0.00
microphthalmia Gabpaem2(IMPC)Mbp HET E15.5 0.00
spina bifida Gabpaem2(IMPC)Mbp HET E15.5 0.00
abnormal facial morphology Gabpaem2(IMPC)Mbp HOM E12.5 0.00
hemorrhage Gabpaem2(IMPC)Mbp HET E15.5 0.00
microphthalmia Gabpaem2(IMPC)Mbp HOM E15.5 0.00
polydactyly Gabpaem2(IMPC)Mbp HOM E15.5 0.00
hemorrhage Gabpaem2(IMPC)Mbp HOM E15.5 0.00
spina bifida Gabpaem2(IMPC)Mbp HOM E15.5 0.00
anophthalmia Gabpaem2(IMPC)Mbp HOM E15.5 0.00
abnormal cranium morphology Gabpaem2(IMPC)Mbp HOM E12.5 0.00
anophthalmia Gabpaem2(IMPC)Mbp HET E15.5 0.00
microcephaly Gabpaem2(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

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Gabpa 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 Gabpa by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Gombo Syndrome
Microcephaly, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cysteine Peptiduria
Abnormal circulating glycine concentration, Abnormal circulating cysteine concentration OMIM:219550
Sarcosinemia
Hypersarcosinemia OMIM:268900
Schizophrenia 4
Hyperprolinemia OMIM:600850
Maple Syrup Urine Disease, Mild Variant
Hyperisoleucinemia, Hyperleucinemia OMIM:615135
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Mac... OMIM:615938
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... ORPHA:64754
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Polydactyly, Talipes equinova... OMIM:613885
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Mmep Syndrome
Microphthalmia, Split foot, Triphalangeal thumb, Microcephaly ORPHA:3434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Congenital Varicella Syndrome
Microphthalmia, Cerebral cortical atrophy, Micromelia, Microcephaly ORPHA:291
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... OMIM:600384
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Age... OMIM:616570
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Hypoplasia of the corpus callosu... OMIM:164180
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of... ORPHA:945
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... OMIM:615771
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Postaxial foot polyda... ORPHA:139471
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly ORPHA:2935
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... OMIM:206920
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... ORPHA:3265
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly OMIM:185900
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... OMIM:610140
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Microcephaly OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... ORPHA:3268
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... OMIM:615297
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Agenesis of cerebellar vermis, Postaxial polydactyly OMIM:213010
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Microcephaly OMIM:614082
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... OMIM:611134
Joubert Syndrome 22
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Temporal cortical ... OMIM:615665
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Lissencephaly 8
Occipital encephalocele, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Hypoplas... OMIM:617255
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Aplasia/Hypoplasia of the earlobes... ORPHA:1104
Craniotelencephalic Dysplasia
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... OMIM:218670
Pelvis-Shoulder Dysplasia
Syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Fifth finger distal phalanx clino... ORPHA:2839
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... OMIM:603546
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Megalencephaly, Hydrocephalus, Progressive macrocephaly, Polydactyly, Microphthalmia,... OMIM:602501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... ORPHA:166024
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micromelia, Postaxial ... ORPHA:2189
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Attached earlobe, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly o... ORPHA:1327
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Feingold Syndrome Type 2
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Abnormal left ventricular function, Ca... OMIM:613155
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Hitchhiker thumb, Single transverse palmar crease, Spina bifid... ORPHA:2437
Seckel Syndrome 2
Microcephaly, Heart murmur, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Septooptic Dysplasia
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Polydactyly, Short finge... OMIM:182230
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Schisis Association
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly ORPHA:63862
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly OMIM:617119
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Bardet-Biedl Syndrome 7
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... OMIM:225280
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius, Microcephaly ORPHA:3469
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Hartsfield Syndrome
Encephalocele, Split hand, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencephaly, Ap... ORPHA:2117
Frontonasal Dysplasia 1
Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... OMIM:136760
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger OMIM:618725
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Microphthalmia, Type II lissencephaly ORPHA:324416
Walker-Warburg Syndrome
Anophthalmia, Posteriorly rotated ears, Absent septum pellucidum, Abnormal cortical gyration, Mic... ORPHA:899
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal c... OMIM:300863
Temtamy Syndrome
Short toe, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Clinodactyly of t... ORPHA:1777
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Sh... ORPHA:1120
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... ORPHA:65759
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Braddock-Carey Syndrome 2
Microcephaly, Atresia of the external auditory canal, Microphthalmia, Clinodactyly, Hearing impai... OMIM:619981
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... ORPHA:370010
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Hydr... ORPHA:1908
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Microphthalmia, Syndromic 8
Microphthalmia, Split foot, Microcephaly OMIM:601349
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Hypoplasia of the pons, Prominent ear helix, Large earlobe, Occipital cortical atro... ORPHA:411986
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Nanophthalmos
Microphthalmia ORPHA:35612
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Cofs Syndrome
Cerebral calcification, Camptodactyly of finger, Microcephaly, Sensorineural hearing impairment, ... ORPHA:1466
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly ORPHA:2440
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Trisomy 1Q
Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly,... ORPHA:261344
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Cortical dysplasia, Toe syndactyly ORPHA:261272
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Hypomelanosis Of Ito
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... OMIM:300337
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Overlapping toe, Microcephaly, Perisylvian polymicrogyria, Cerebral... OMIM:600118
Adams-Oliver Syndrome 3
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... OMIM:614814
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Pierpont Syndrome
Posteriorly rotated ears, Abnormal cortical gyration, Uplifted earlobe, Hearing impairment, Short... ORPHA:487825
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Mic... OMIM:300887
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Trisomy 13
Anophthalmia, Postaxial hand polydactyly, Sensorineural hearing impairment, Aplasia/Hypoplasia of... ORPHA:3378
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... OMIM:619091
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Abnormal tragus morp... ORPHA:66625
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posteriorly rotated ears,... OMIM:600325
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Sensorineural hearing ... ORPHA:3219
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, L... OMIM:601707
Fanconi Anemia, Complementation Group R
Tethered cord, Microcephaly, Absent thumb, Hydrocephalus, Microphthalmia, Radial dysplasia OMIM:617244
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly, Microcephaly OMIM:147250
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb OMIM:609054
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Joubert Syndrome 40
Optic nerve hypoplasia, Postaxial polydactyly OMIM:619582
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... OMIM:617927
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... OMIM:616038
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Simplified gyral pattern, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, ... OMIM:251270
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Pierpont Syndrome
Posteriorly rotated ears, Microcephaly, Short toe, Broad palm, Short foot, Large fleshy ears, Dee... OMIM:602342
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Summitt Syndrome
Syndactyly OMIM:272350
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus... ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... OMIM:615181
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Microphthalmia, Syndromic 13
Anteverted ears, Microphthalmia, Microcephaly OMIM:300915
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Megalencephaly, Abnormally large globe, Hydrocephalus, Thick corpus callos... OMIM:603387
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebral hemorrhage, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short ... OMIM:300049
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Microcephaly, Cubitus valgus, Camptodactyly, Microphthalmia, Macrotia, Th... OMIM:619694
Adams-Oliver Syndrome 2
Single transverse palmar crease, Microcephaly, Hydrocephalus, Cerebral atrophy, Protruding ear, A... OMIM:614219
Joubert Syndrome 16
Encephalocele, Polydactyly, Dandy-Walker malformation OMIM:614465
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Moebius Syndrome
Syndactyly, Brachydactyly, Abnormal pinna morphology, Microphthalmia, Split hand, Abnormal pelvic... OMIM:157900
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger, Hearing impairment ORPHA:376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... OMIM:613153
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... ORPHA:3210
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum ORPHA:77298
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Diffuse cerebral atrophy, Arachnodactyly, Broad hallux, Proximal placement of thum... OMIM:613776
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,... ORPHA:93267
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Triceps aplasia, Patellar aplasia, Hypopl... OMIM:161200
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Joubert Syndrome 10
Low-set ears, Cerebellar vermis hypoplasia, Postaxial polydactyly, Macrocephaly OMIM:300804
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... OMIM:618914
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Posteriorly rotated ears, H... ORPHA:264200
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finger, Microcephaly, Adducted thu... OMIM:610758
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Postaxial poly... OMIM:605627
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus ... ORPHA:1926
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... ORPHA:2092
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
20P13 Microdeletion Syndrome
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Polydactyly... ORPHA:313781
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Microcephaly, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplastic ischia OMIM:616910
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Grange Syndrome
Aortic regurgitation, Syndactyly, Hypertension, Short palm ORPHA:79094
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... OMIM:274000
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o... OMIM:607131
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Microcephaly, Spina b... ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Progressive mic... OMIM:615249
Monosomy 5P
Low-set, posteriorly rotated ears, Finger syndactyly, Small hand, Microcephaly ORPHA:281
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida, Hearing impairment ORPHA:2345
Bresek Syndrome
Optic nerve hypoplasia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Protruding ear, ... ORPHA:85284
Meckel Syndrome
Encephalocele, Bowing of the long bones, Anophthalmia, Microcephaly, Preaxial hand polydactyly, P... ORPHA:564
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Posteriorly rotated e... OMIM:614424
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short palm, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux, Spina bifi... ORPHA:508498
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Small hand, Absent distal phalanges, Low-set ears, Microphthalmi... OMIM:619339
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand ORPHA:3152
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ... OMIM:109400
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Agenesis of cerebellar vermis,... OMIM:614815
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Abn... ORPHA:2538
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... OMIM:113000
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... ORPHA:974
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cerebrocostomandibular Syndrome
Cerebral calcification, Hydranencephaly, Spina bifida, Microcephaly, Conductive hearing impairmen... ORPHA:1393
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Trisomy 18
Low-set, posteriorly rotated ears, Camptodactyly of finger, Spina bifida, Microcephaly, Postaxial... ORPHA:3380
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Congenital Toxoplasmosis
Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia, Hearing impairment ORPHA:858
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Sandestig-Stefanova Syndrome
Rocker bottom foot, Underdeveloped tragus, Primary microcephaly, Hypoplasia of the corpus callosu... OMIM:618804
Vacterl With Hydrocephalus
Anophthalmia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasi... ORPHA:3412
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Microcephaly, Aqueductal stenosis, Humeroradial synostos... OMIM:251230
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo... OMIM:258860
Bardet-Biedl Syndrome 16
Polydactyly, Hearing impairment OMIM:615993
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ... OMIM:618142
Temtamy Syndrome
Aortic regurgitation, Hip dislocation, Thick corpus callosum, Short 2nd toe, Talipes equinovarus,... OMIM:218340
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... ORPHA:88630
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Relative macrocephaly, Upper limb asymmetry, Protruding ear, Polydactyly, Clinodactyly of the 5th... ORPHA:231140
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... ORPHA:63259
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... ORPHA:60040
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Microcephaly OMIM:610756
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... OMIM:617926
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Camptodactyly of finger, Short thumb, Protruding ear, Palmoplantar keratoderma... ORPHA:2251
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, ... OMIM:614833
Neu-Laxova Syndrome 1
Micromelia, Calcaneovalgus deformity, Agenesis of corpus callosum, Dandy-Walker malformation, Fin... OMIM:256520
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... ORPHA:1263
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Monosomy 18P
Microcephaly, Protruding ear, Hypertension, Abnormal antihelix morphology, Holoprosencephaly, Mic... ORPHA:1598
Charlie M Syndrome
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Macrotia, Bra... ORPHA:1406
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Holoprosencephaly
Encephalocele, Anophthalmia, Microcephaly, External ear malformation, Hydrocephalus, Spinal cord ... ORPHA:2162
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation of finger, Mitral... ORPHA:1101
Temtamy Preaxial Brachydactyly Syndrome
Abnormally large globe, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous ... ORPHA:363417
Cat-Eye Syndrome
Microphthalmia, Hip dysplasia, Hearing impairment ORPHA:195
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Rocker bottom foot, Coxa valga, Microcephaly, Basal ganglia calcificati... OMIM:214150
Bardet-Biedl Syndrome 19
Mesoaxial hand polydactyly, Postaxial polydactyly, Postaxial foot polydactyly, Hypoplasia of the ... OMIM:615996
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Syringomyelia, Cerebral cortical atrophy, Congenital bilateral hip dislocation ORPHA:404451
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hearing impairment OMIM:120433
Martsolf Syndrome 1
Osteopathia striata, Finger joint hypermobility, Short palm, Prominent antitragus, Short phalanx ... OMIM:212720
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Microcephaly, Overfolded helix, Large fleshy ears, Low-set ears, Clin... OMIM:619092
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinodactyly, Absent distal... ORPHA:1692
Baraitser-Winter Syndrome 2
Abnormal pinna morphology, Secondary microcephaly, Lissencephaly, Microphthalmia, Pachygyria, Age... OMIM:614583
Focal Dermal Hypoplasia
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... OMIM:305600
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Sensorineural hearing impairment, Secondary microcephaly, Low-set ears, ... OMIM:618652
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Microcephaly, Aniridia, Biparietal narrowing, Low-set ears, Macroceph... ORPHA:251038
Ring Chromosome 21 Syndrome
Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly ORPHA:1445
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Warburg Micro Syndrome 2
Overlapping toe, Asymmetry of the ears, Microcephaly, Macrotia, Secondary microcephaly, Hypoplasi... OMIM:614225
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum ORPHA:99742
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Postaxial hand po... OMIM:610829
Microphthalmia, Syndromic 6
Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Protruding ear, Clinodactyly of ... OMIM:607932
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Absent radius, Cupped ear,... ORPHA:1352
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapere... ORPHA:435638
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Mi... ORPHA:2994
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Secondary microcephaly, Cerebellar hypoplasia OMIM:613730
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of t... ORPHA:370959
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Ring Chromosome 10 Syndrome
Sandal gap, Tapered finger, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphth... ORPHA:1438
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Large ... ORPHA:3447
Rhombencephalosynapsis
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Hydrocephalus, Polydacty... ORPHA:59315
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... ORPHA:2756
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Contracture of the proximal interpha... OMIM:300166
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Posteriorly rotated ears, Microcephaly, Short first metatarsal, Short 5... OMIM:613684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis of the cor... OMIM:614643
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger ORPHA:48431
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function, Cerebellar hypoplasia OMIM:618805
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
6P22 Microdeletion Syndrome
Finger syndactyly, Hydrocephalus, Overfolded helix, Low-set ears, Clinodactyly, Hearing impairment ORPHA:251046
Frontorhiny
Low-set, posteriorly rotated ears, Pericallosal lipoma, Encephalocele, Camptodactyly of finger, A... ORPHA:391474
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Hypoplasia of th... OMIM:616362
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Bilateral microphthalmos, Microcephaly ORPHA:77299
Heart And Brain Malformation Syndrome
Attached earlobe, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Camptodactyly of finger... OMIM:616920
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
Holt-Oram Syndrome
Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping shoulders, First degree atriovent... ORPHA:392
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... OMIM:609945
Joubert Syndrome 33
Syndactyly, Macrocephaly OMIM:617767
Trisomy 20P
Low-set, posteriorly rotated ears, Finger syndactyly, Camptodactyly of finger, Spina bifida, Prea... ORPHA:261318
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Bilateral... OMIM:607597
Joubert Syndrome 7
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Hypoplasia of the ... OMIM:611560
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Sensorineural hearing ... ORPHA:1825
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Congenital Rubella Syndrome
Microcephaly, Sensorineural hearing impairment, Aplasia/Hypoplasia of the iris, Microphthalmia, A... ORPHA:290
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Tapere... OMIM:619148
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Shorte... OMIM:619135
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... OMIM:619879
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Microcephaly OMIM:615284
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Mohr Syndrome
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met... OMIM:252100
Gracile Bone Dysplasia
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Brachydactyly OMIM:602361
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Microcephaly, Postaxial hand polydactyly, Hydrocephalus,... OMIM:264480
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Cockayne Syndrome Type 2
Macrotia, Anophthalmia, Subcortical white matter calcifications, Hearing impairment ORPHA:90322
Stevenson-Carey Syndrome
Posteriorly rotated ears, Hip dysplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosum... OMIM:611961
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Hallermann-Streiff Syndrome
Abnormality of the hand, Microcephaly, Spina bifida, Metaphyseal widening, Telangiectasia, Slende... OMIM:234100
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Relative macrocephaly, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Mac... OMIM:617306
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly OMIM:617883
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, Clinodactyly of... OMIM:619721
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Single transverse palmar crease, Microcephaly, Hypoplasia of the corpus callosum, M... OMIM:614105
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Postaxial polydactyly, Low-set ears, Hypo... OMIM:619185
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Low-set, poster... ORPHA:175
Fanconi Anemia
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly... ORPHA:84
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Acrofrontofacionasal Dysostosis 2
Syndactyly, Broad hallux, Posteriorly rotated ears, Microcephaly, Hand polydactyly, Low-set ears,... OMIM:239710
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand OMIM:603543
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Microcephaly, Hydrocephalus, Short foot, Hand polydactyly, ... ORPHA:250989
Neu-Laxova Syndrome
Cerebral calcification, Absent septum pellucidum, Micromelia, Abnormal cortical gyration, Microce... ORPHA:2671
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... ORPHA:2788
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Bilateral single transverse palmar creases,... ORPHA:2377
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Baraitser-Winter Syndrome 1
Microcephaly, Duplication of phalanx of hallux, Sensorineural hearing impairment, Overfolded heli... OMIM:243310
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Porencephalic cyst, Tibial bowing, Conductive hearing impairment, A... OMIM:277170
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... OMIM:607323
Oculofaciocardiodental Syndrome
Short thumb, Sensorineural hearing impairment, Broad palm, 2-3 toe syndactyly, Genu valgum, Hamme... ORPHA:2712
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Global brain atrophy, Microcephaly OMIM:308350
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Overlapping toe, Posteriorly rotated ears, Cerebral atrophy, Hip dy... OMIM:618494
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly OMIM:619318
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u... ORPHA:163649
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal pinna morphology, Abnormal... OMIM:219000
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Silver-Russell Syndrome Due To A Point Mutation
Relative macrocephaly, Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Low-set ears, Cli... ORPHA:397590
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Microcephaly, Sensorineural hearing impairment, Spinal dysraphism, Aortic valve st... OMIM:617660
Filippi Syndrome
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous syndactyly, Finger c... OMIM:272440
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina... ORPHA:2308
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Hypop... OMIM:236500
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Arrhythmia, Synostosis of carpal bones, Bilate... ORPHA:3191
Pelger-Huet Anomaly
Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short ... OMIM:169400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Marden-Walker Syndrome
Arachnodactyly, Microcephaly, Radioulnar synostosis, Hypoplasia of the brainstem, Talipes equinov... OMIM:248700
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Short hallux, Sensorineural hearing ... ORPHA:3224
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Microcephaly, Tapered finger, Macular hypoplasia, Low-set... OMIM:613792
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Low-set ears ORPHA:2470
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of t... OMIM:616538
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Conductive hearing i... OMIM:304120
Aicardi Syndrome
Cerebellar vermis hypoplasia, Proximal placement of thumb, Microcephaly, Spina bifida, Partial ag... OMIM:304050
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... ORPHA:464738
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Spina bifida occulta ORPHA:1514
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Macrotia, Postaxial polydactyly, Microcephaly ORPHA:544254
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers, Tachycardia, Internal hemorrhage ORPHA:335
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Waardenburg Syndrome Type 1
Congenital sensorineural hearing impairment, Meningocele, Spina bifida, Hearing impairment ORPHA:894
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Absent thumb, Microcephaly, Short thumb, Hypopl... OMIM:609053
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Hearing impairment, Microcephaly, Overfolded helix, Protruding e... OMIM:618950
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Microcephaly, Heart murmur, Microtia, Microphthalmia, Hearing im... ORPHA:2728
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... OMIM:615503
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Thickened helices, Microcephaly, Protruding e... ORPHA:1587
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Macrotia, Palmoplantar keratoderma OMIM:613576
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Microcephaly, External ear malformation, Congestive heart fail... ORPHA:2505
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... OMIM:617895
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Sensorineural hearing im... OMIM:206900
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, Uplifted earlobe, Microcephaly, 2-3 toe syndactyly, Cerebral atr... OMIM:616449
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Finger syndactyly, Camptodactyly of finger, Microcephaly, Exte... ORPHA:568
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Small earlobe, Single transverse palmar crease, Rocker b... OMIM:272950
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... ORPHA:3103
Kapur-Toriello Syndrome
Single transverse palmar crease, Camptodactyly of finger, Pachygyria, Short thumb, Conductive hea... OMIM:244300
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Microcephaly, 3-4 finger cutaneous syndactyly, Microtia, Talipes equinovarus, Cerebel... OMIM:612530
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Oculo-Palato-Cerebral Syndrome
Microcephaly, Small hand, Aplasia/Hypoplasia of the corpus callosum, Short foot, Thickened helice... ORPHA:2714
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly, Microcephaly ORPHA:1942
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Hearing impairment, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of ... OMIM:619451
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Optic nerve hypoplasia, Preaxial po... OMIM:603671
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... OMIM:617866
Oculopalatocerebral Syndrome
Microphthalmia, Microcephaly OMIM:257910
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Hydrocephalus, Telangiectasia, Polydactyly, Low-set ears, ... ORPHA:93400
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle OMIM:173800
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Triploidy
Finger syndactyly, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus callosum, Holopro... ORPHA:3376
Warburg Micro Syndrome 3
Microcephaly, Macrotia, Secondary microcephaly, Hypoplasia of the corpus callosum, Clinodactyly o... OMIM:614222
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Adams-Oliver Syndrome 6
Syndactyly, Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Brachydactyly OMIM:616589
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Protruding ear, Joint contract... OMIM:620098
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Protrudi... ORPHA:73246
Nance-Horan Syndrome
Microphthalmia, Short metacarpal, Protruding ear ORPHA:627
Cloacal Exstrophy
Spina bifida, Abnormal tibia morphology, Myelomeningocele, Absent foot, Hip dislocation, Abnormal... ORPHA:93929
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Microcephaly, Cortical dysplasia, Hypertension, Pulmonary arterial... OMIM:100300
Deafness, X-Linked 7
Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear... OMIM:301018
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism OMIM:612918
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Cupped ear, Low-set ears OMIM:167730
Nasopalpebral Lipoma-Coloboma Syndrome
Microcephaly, Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Low... ORPHA:2399
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... ORPHA:3429
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Microcephaly, Small hand, Short foot, Hypoplasia of the corpus callosum... OMIM:241410
Refsum Disease
Short metacarpal, Heart block, Sensorineural hearing impairment, Cardiomyopathy, Hammertoe, Abnor... ORPHA:773
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... ORPHA:435938
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Low-set ears OMIM:601163
Alkuraya-Kucinskas Syndrome
Overlapping toe, Posteriorly rotated ears, Hydrocephalus, Cutaneous syndactyly, Macrocephaly, Apl... OMIM:617822
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Relative macrocephaly, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Pre... OMIM:616300
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... OMIM:609638
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Desbuquois Dysplasia 2
Relative macrocephaly, Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, M... OMIM:615777
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... ORPHA:1515
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anophthalmia, Basal ganglia calcification, Hypertension, Mac... ORPHA:90321
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe, Protruding ear OMIM:181510
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Microcephaly, Abnormality of the elbow, Hip... ORPHA:1005
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Single transverse palmar crease, Camptodact... ORPHA:915
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta, Low-set, posteriorly rot... ORPHA:2475
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Sensorineural hearing impairment ORPHA:1473
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Microcephaly, Long fingers, Hypoplasia of the corpus callosum, Low-set ... OMIM:156610
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease OMIM:619053
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... ORPHA:1788
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Microcephaly, Hydrocephalus, Meningoce... ORPHA:567
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... OMIM:212780
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida, Hemiatrophy ORPHA:2874
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod... OMIM:300963
Tarp Syndrome
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Single transverse palmar crease, Rocker b... OMIM:311900
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... OMIM:600987
Fraser Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Encephalocele, Anophthalmia, Toe syndactyly... ORPHA:2052
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Microcephaly, Sensorineural hearin... ORPHA:193
Intellectual Developmental Disorder, Autosomal Dominant 23
Low-set ears, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Preaxial polyd... OMIM:243605
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi... ORPHA:404440
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly OMIM:618727
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
3Q29 Microdeletion Syndrome
Microcephaly, Tapered finger, Pulmonary arterial hypertension, Low-set ears, Macrocephaly, Clinod... ORPHA:65286
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Syringomyelia, Polydactyly, Aplasia/Hypoplasia of the corpus callosum ORPHA:531151
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Microphtha... ORPHA:891
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Charge Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Hearing im... ORPHA:138
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Low-set ears, Camptodactyly, Umbil... ORPHA:369891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... OMIM:253800
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o... OMIM:180849
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Syndactyly, Microcephaly, Anteverted ears, Cerebellar hypoplasia, Clinodactyly OMIM:618087
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Aortic regurgitation, Sandal gap, Aplasia/Hypoplasia of the cerebe... ORPHA:254346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microcephaly, Partial absence of cerebellar vermis, Hydrocephalus, Buphthalmos, Hy... OMIM:613150
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Microcephaly, Abnormality of the humerus... ORPHA:3186
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Mend Syndrome
Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Long fingers, Hydrocephalus, ... ORPHA:401973
Blepharocheilodontic Syndrome 1
Neural tube defect, Clinodactyly, Cutaneous syndactyly OMIM:119580
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Hypoplasi... OMIM:615636
Methylcobalamin Deficiency Type Cble
Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of... ORPHA:2169
Galloway-Mowat Syndrome 3
Arachnodactyly, Microcephaly, Hip dislocation, Simplified gyral pattern, Cerebral atrophy, Hypert... OMIM:617729
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Microcephaly, Small hand, Sh... ORPHA:1786
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Oculodentodigital Dysplasia, Autosomal Recessive
Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut... OMIM:257850
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Abnormal pinna morphology, Tarsal synostosis, Short hall... ORPHA:90652
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelv... OMIM:302960
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... ORPHA:3320
Tyrosinosis
Hypertyrosinemia OMIM:276800
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Joubert Syndrome 27
Polydactyly OMIM:617120
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... ORPHA:3472
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93259
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Microcephaly,... ORPHA:363958
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Joubert Syndrome 2
Encephalocele, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Hydrocephalus, Postaxia... OMIM:608091
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Low-set ears, Microphthalmia, Agenesis of corpus ca... ORPHA:228390
Galloway-Mowat Syndrome 1
Microcephaly, Pachygyria, Macrotia, Cerebral atrophy, Hypoplasia of the iris, Hypoplasia of the b... OMIM:251300
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Tricuspid regurgitation, Absent septum pellucidum, Microcephaly, Cleft earlobe, Hyd... ORPHA:2556
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertensio... OMIM:162200
Oculodentodigital Dysplasia
Abnormal pinna morphology, Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Cond... OMIM:164200
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Abnormal antihelix morphology, Microtia, Brachydactyly ORPHA:2145
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... ORPHA:1647
Nance-Horan Syndrome
Microphthalmia, Macrotia, Short phalanx of finger, Broad finger OMIM:302350
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Stapes ankylosis, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, ... OMIM:614701
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... OMIM:192350
Pagod Syndrome
Encephalocele, Spina bifida, Sudden cardiac death, Microcephaly, Meningocele, Arrhythmia ORPHA:991
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Posteriorly r... OMIM:146510
Fanconi Anemia, Complementation Group F
Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microti... OMIM:603467
Mend Syndrome
Overlapping toe, Broad hallux, Posteriorly rotated ears, Long fingers, Hydrocephalus, 2-3 toe syn... OMIM:300960
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Camptodactyly of finger, Tapered finger, Microcephaly, Large earlobe, Hypoplasia of the ear carti... ORPHA:1236
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Hearing impairment, Elbow ... ORPHA:3258
Frontonasal Dysplasia 3
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:613456
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Protruding ear, Shor... ORPHA:2256
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Macrocephaly OMIM:615085
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Microtia, Hearing impairment, Camptodactyly OMIM:616006
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Low-set ea... ORPHA:284160
Isolated Osteopoikilosis
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... ORPHA:166119
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the... OMIM:614230
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasi... ORPHA:2754
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Encephalocraniocutaneous Lipomatosis
Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypopla... OMIM:613001
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Microcephaly, Unilateral microphthalmos, Macrocephaly, Polymicrogyria, Adducted thumb OMIM:618874
Silver-Russell Syndrome 3
Relative macrocephaly, Syndactyly, Small hand, Low-set ears, Clinodactyly of the 5th finger OMIM:616489
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Men... OMIM:236670
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Anotia, Microtia, Foot polydactyly, Atresia of the external auditory canal, Short ... ORPHA:268249
Microphthalmia, Syndromic 9
Low-set ears, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis OMIM:601186
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Holoprosencephaly, Hypoplasia of... OMIM:214800
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Protruding ear, Simplified gyral pattern, Microcephaly OMIM:152950
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Proximal femoral metaphyseal irregularity,... ORPHA:397715
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Oliver Syndrome
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... ORPHA:2920
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Ritscher-Schinzel Syndrome 1
Syndactyly, Hydrocephalus, Low-set ears, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker m... OMIM:220210
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Posteriorly rotated ears, Spina bifida, Tapered finger, Partial agenesis of the co... OMIM:619480
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb ORPHA:2250
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Macrotia ORPHA:66629
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Incontinentia Pigmenti
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,... ORPHA:464
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Conductive hear... ORPHA:1001
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hip dysplasia, Hypoplasia of the... ORPHA:494344
Short Stature With Microcephaly And Distinctive Facies
Syndactyly, Short digit, Proximal placement of thumb, Microcephaly, Talipes equinovarus, Hypoplas... OMIM:615789
Branchiooculofacial Syndrome
Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ... OMIM:113620
Kbg Syndrome
Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Finger clinodactyly, Bilater... ORPHA:2332
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Microcephaly, Abnormal... ORPHA:178303
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... ORPHA:1234
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hypoplasia of... OMIM:184705
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Aplasia/Hypoplasia of the... ORPHA:2166
Atelis Syndrome 2
Single transverse palmar crease, Microcephaly, Supravalvar pulmonary stenosis, Protruding ear, Vi... OMIM:620185
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bi... OMIM:600145
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Thickened helices, M... ORPHA:85194
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proxim... ORPHA:96334
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux OMIM:263630
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial cont... ORPHA:158687
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Waardenburg Syndrome, Type 1
Congenital sensorineural hearing impairment, Myelomeningocele, Hypoplastic iris stroma, Spina bifida OMIM:193500
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Joint contracture of the 5th finger, Posta... OMIM:619562
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Hearing im... ORPHA:783
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Camptodactyly of finger, Microcephaly, Meni... ORPHA:2311
Warburg Micro Syndrome 4
Perisylvian polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphtha... OMIM:615663
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Abno... ORPHA:468631
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Abnormal pinna morphology, Proximal placement of thumb, Microcephaly, Cardiomyopathy,... OMIM:217980
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus... OMIM:616546
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum ORPHA:1791
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cerebellar vermis hypoplasia, Polymicrogyria, Low-set ears OMIM:612379
Miller-Dieker Lissencephaly Syndrome
Posteriorly rotated ears, Single transverse palmar crease, Microcephaly, Pachygyria, Deep palmar ... OMIM:247200
Kapur-Toriello Syndrome
Posteriorly rotated ears, Dysplastic corpus callosum, Atresia of the external auditory canal, Low... ORPHA:2328
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Orofaciodigital Syndrome I
Syndactyly, Abnormal cortical gyration, Hearing impairment, Microcephaly, Myelomeningocele, Poren... OMIM:311200
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... OMIM:300952
Fanconi Anemia, Complementation Group D2
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... OMIM:227646
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Postaxial polydactyly, Microcephaly, Hydrocephalus, Cerebral atrophy,... OMIM:614576
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Underfolded helix, Posteriorly rotated ears, Long fingers, Cutaneous s... OMIM:618316
Micro Syndrome
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Microcephaly, Macrotia, Aplasia/... ORPHA:2510
Fanconi Anemia, Complementation Group E
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... OMIM:600901
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Biparietal narrowing, Microcephaly ORPHA:1915
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Microcephaly, Clinodactyly of the 5th finger, Clinodactyly... ORPHA:3255
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Microtia, Micropht... ORPHA:3301
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly, Hearing impairment OMIM:619736
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Bohring-Opitz Syndrome
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Posteriorly rotated ears, Tapered fing... OMIM:605039
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Rocker bottom foot, Single transverse palmar crease, Postaxial polydact... OMIM:617527
Monosomy 9Q22.3
Palmar pits, Hydrocephalus, Umbilical hernia, Polydactyly, Calcification of falx cerebri, Macroce... ORPHA:77301
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of finger, Postaxial... OMIM:249000
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Posteriorly rotated ears, Small hand, Low-set ears, Spina bifida occulta, Shor... ORPHA:1787
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bone morphology, S... ORPHA:1323
Trichothiodystrophy 4, Nonphotosensitive
Microcephaly, Partial agenesis of the corpus callosum, Microphthalmia, Macrotia, Cerebral cortica... OMIM:234050
Apert Syndrome
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... OMIM:101200
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Protruding ear, Low-set ears, Microphthalmia, Inferior cerebellar vermis hypoplasia OMIM:618571
Vitreoretinochoroidopathy
Microphthalmia, Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Myhre Syndrome
Overlapping toe, Hearing impairment, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, C... OMIM:139210
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... ORPHA:2008
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Absent septum pellucidum, Anteverted ears, Hip ... OMIM:613884
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Abnormal pinna morphology, Single transverse palmar crease, Microce... OMIM:123450
Fanconi Anemia, Complementation Group A
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... OMIM:227650
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Finger clinodact... ORPHA:306542
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Ring Chromosome 12 Syndrome
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Microtia, Symphalangism of the thumb, L... ORPHA:1439
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,... OMIM:305400
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... ORPHA:93932
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
X-Linked Dominant Chondrodysplasia Punctata
Abnormal pinna morphology, Sensorineural hearing impairment, Neonatal epiphyseal stippling, Hip d... ORPHA:35173
Adnp Syndrome
Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly, Abnormal toe morphology,... ORPHA:404448
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Posteriorly rotated ears, Abnormal cortic... ORPHA:2211
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... OMIM:601005
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Protruding ear, Microcephaly ORPHA:2526
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Short thumb, Hip dysplasi... OMIM:300895
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of... OMIM:151050
Xeroderma Pigmentosum, Complementation Group D
Microcephaly, Sensorineural hearing impairment, Telangiectasia, Microphthalmia, Corneal neovascul... OMIM:278730
Oculodentodigital Dysplasia
Cerebral calcification, Clinodactyly, Aplasia/Hypoplasia of the cerebellum, Conductive hearing im... ORPHA:2710
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... OMIM:619762
Cerebrofacioarticular Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Conductive he... ORPHA:314679
Opitz-Kaveggia Syndrome
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Partial agenesi... OMIM:305450
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Toe clinodactyly, Cl... ORPHA:217346
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Tibial bowing, Shor... OMIM:601812
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Single transverse palmar crease, Microcephaly, Junctional ectopic tachy... OMIM:309801
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Abnormal pinna morphology, Abnormal palmar dermatoglyphics, Down-slopin... OMIM:309800
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93260
Skin Creases, Congenital Symmetric Circumferential, 2
Posteriorly rotated ears, Uplifted earlobe, Tapered finger, Microcephaly, Long fingers, 2-3 toe s... OMIM:616734
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
3C Syndrome
Finger syndactyly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morphology, Macrocephaly, A... ORPHA:7
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Hearing impairment, Microcephaly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the di... ORPHA:364577
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Hypoplasia of the pons, Intraventricular hemorrhage, Sensorineural hearing impairment... OMIM:616430
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Adams-Oliver Syndrome 5
Syndactyly, Pulmonary arterial hypertension, Pulmonic stenosis, Umbilical hernia, Brachydactyly OMIM:616028
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... ORPHA:1512
Orofaciodigital Syndrome V
Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd... OMIM:174300
Bardet-Biedl Syndrome 1
Syndactyly, Postaxial polydactyly, Hearing impairment, Postaxial hand polydactyly, Postaxial foot... OMIM:209900
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Macrocepha... OMIM:614099
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Hypertrophic cardiomyopathy, M... ORPHA:1517
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia... ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ... OMIM:180860
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Jacobsen Syndrome
Microcephaly, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Low-set ears, Macrocephaly, C... OMIM:147791
Kenny-Caffey Syndrome, Type 2
Basal ganglia calcification, Macrocephaly, Microphthalmia, Thickened cortex of long bones, Abnorm... OMIM:127000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Delayed epiphyseal oss... OMIM:210710
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand po... OMIM:236680
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Brachydactyly, Overlapping toe, Single transverse palmar creas... ORPHA:221120
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Microcephaly, Protruding ear... ORPHA:464306
Frontonasal Dysplasia 2
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypopla... OMIM:613451
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Macrocephaly, Microphthalmia, Abnormal c... ORPHA:141099
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Split Cord Malformation
Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin... ORPHA:573278
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hearing impairm... ORPHA:794
Rodrigues Blindness
Microphthalmia, Protruding ear OMIM:268320
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal neovascularization OMIM:305390
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Finger syndactyly ORPHA:1997
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Tarp Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre... ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Posteriorly rotated ears, Abnormal cortical gyration, Postaxial polydactyly, Tapered finger, Smal... OMIM:300968
Linear Nevus Sebaceus Syndrome
Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Biparietal... ORPHA:2612
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Fanconi Anemia, Complementation Group C
Absent thumb, Absent radius, Short thumb, Microcephaly, Microphthalmia, Complete duplication of t... OMIM:227645
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... OMIM:277900
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:615989
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Tricuspid regurgitation, Tethered cord, Postaxial polydactyly, Micr... OMIM:618460
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... ORPHA:457284
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... ORPHA:2911
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... ORPHA:87
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous... OMIM:620029
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Retinal hemorrhage, Hypoplasia of t... OMIM:609049
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Abnormal pinna morphology, Mi... OMIM:616975
Holoprosencephaly 7
Occipital meningocele, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus cal... OMIM:610828
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Postaxial hand polydactyly, Hypertension, H... ORPHA:110
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Mi... ORPHA:1052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pubic bone, F... OMIM:617925
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Basal ganglia calcification, Sensorineural hearing impairment, Microcephaly OMIM:610651
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly OMIM:614800
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Hydrocephalus, Anotia, Bilateral talipes equinovarus, Cerebellar hyp... OMIM:614083
Grange Syndrome
Finger clinodactyly, Syndactyly, Renovascular hypertension, Brachydactyly OMIM:602531
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Blepharonasofacial Malformation Syndrome
External ear malformation, Finger syndactyly, Hearing impairment ORPHA:1252
Hamamy Syndrome
Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers... OMIM:611174
Monosomy 9P
Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda... ORPHA:261112
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, Tethered cord, 2... OMIM:107480
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Duplicated tragus, Partial duplication of thumb phalanx, S... OMIM:164210
Otodental Syndrome
High-frequency sensorineural hearing impairment, Microphthalmia, Lens coloboma, Progressive senso... ORPHA:2791
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Macrotia, Low-set ears OMIM:615145
Momo Syndrome
Underfolded helix, Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Macrocep... ORPHA:2563
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Kbg Syndrome
Syndactyly, Posteriorly rotated ears, Single transverse palmar crease, Microcephaly, Cutaneous sy... OMIM:148050
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Kinsship Syndrome
Single transverse palmar crease, Coxa valga, Microcephaly, Hip dislocation, Fibular hypoplasia, P... OMIM:619297
X Small Rings
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... ORPHA:96201
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Mixed hearing impairment, Microphthalmia, Acetabular dysplasia, Broad thumb, Sh... OMIM:201180
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Duplication of thumb phalanx, Hearin... OMIM:200990
Hallermann-Streiff Syndrome
Microcephaly, Congestive heart failure, Small hand, Short foot, Cerebellar hypoplasia, Clinodacty... ORPHA:2108
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Posteriorly rotated ears, Microcephaly, Aplasia of the distal phalanx of the 5th toe, Sensorineur... OMIM:608670
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Low-set ears, Hearing impairment OMIM:616395
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Microcephaly, Basal ganglia calci... OMIM:133540
Fryns Syndrome
Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Microphthalmia, Agenesis of co... ORPHA:2059
Larsen Syndrome
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... ORPHA:503
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Underfolded helix, Short thumb, Small hand, Overfolded helix, Telangi... OMIM:268400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Polymicrogyria, Umbilical hernia OMIM:614520
Trichothiodystrophy 1, Photosensitive
Microcephaly, Telangiectasia, Protruding ear, Microphthalmia, Macrotia OMIM:601675
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Pallister-Hall Syndrome
Holoprosencephaly, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Radial bowing, Micro... ORPHA:672
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Sensorineural hearing impairment, Postaxial polydactyly OMIM:615824
Dubowitz Syndrome
Syndactyly, Single transverse palmar crease, Microcephaly, Protruding ear, Hypoplasia of the iris... OMIM:223370
Witteveen-Kolk Syndrome
Proximal placement of thumb, Uplifted earlobe, Cortical dysplasia, Protruding ear, Intracranial h... OMIM:613406
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Pili Torti-Onychodysplasia Syndrome
Palmoplantar keratoderma, Abnormal pinna morphology, Cutaneous syndactyly ORPHA:2890
Constricting Bands, Congenital
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus OMIM:217100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Increased circul... OMIM:614866
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Microcephaly, Tapered finger, Small hand, Pulmonary arterial hypertension, H... OMIM:620005
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Tricuspid regurgitation, Hearing impairment, Macrocephaly, Mesomelia, Low-set ears, C... OMIM:616894
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Small hand, Protruding ear, Hip dysplasia,... ORPHA:50
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... ORPHA:958
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus... ORPHA:2215
Hartsfield Syndrome
Syndactyly, Posteriorly rotated ears, Microcephaly, Alobar holoprosencephaly, Lobar holoprosencep... OMIM:615465
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, H... ORPHA:570
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra... OMIM:263750
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Hearing impairment, Protruding ear ORPHA:1806
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye ORPHA:91495
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, Low-set ears, Cubitus va... OMIM:104350
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Conductive hearing impairment, Short tibia, Adactyly, Broad firs... ORPHA:2751
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema OMIM:221900
Fryns Syndrome
Single transverse palmar crease, Proximal placement of thumb, Rocker bottom foot, Short thumb, Hy... OMIM:229850
Neurocardiofaciodigital Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Hypoplasia of the corpus cal... OMIM:619869
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... ORPHA:989
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Finger syndactyly, Occipital encephalocele, Preaxial hand poly... ORPHA:887
Cat Eye Syndrome
Absent radius, Umbilical hernia, Low-set ears, Pulmonic stenosis, Microphthalmia, Hearing impairment OMIM:115470
Fraser Syndrome 2
Microphthalmia, Atresia of the external auditory canal, Low-set ears, Cutaneous syndactyly OMIM:617666
3Mc Syndrome 3
Abnormal pinna morphology, Preaxial polydactyly, Radioulnar synostosis, Auricular pit, Clinodacty... OMIM:248340
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, Phocomelia, Wrist flexion contracture, Syndactyly, Hypoplasia of the ulna, Aplas... OMIM:268300
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Sensorineu... ORPHA:17
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Okamoto Syndrome
Tethered cord, Microcephaly, Abnormally large globe, Hip dysplasia, Syringomyelia, Polydactyly, H... ORPHA:2729
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Biparietal narrowing, Holoprosencephaly, Aplasia/Hypoplasia of the c... ORPHA:818
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Coxa valga, Sensorineural hearing impairment, Lipomyelome... OMIM:616580
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Microcephaly, Symphalangism affecting the phalanges o... ORPHA:2990
Diaphragmatic Hernia 4, With Cardiovascular Defects
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Low-set ears,... OMIM:620025
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Hearing impairment, Preaxial hand polydactyly, Short toe, P... ORPHA:2750
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c... ORPHA:508488
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, S... OMIM:612474
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Low-set ears, Microphakia, Microphthalmia, Spina bifida occul... OMIM:612109
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Conductive hearing impair... OMIM:265000
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Clinodactyly of the 5th finger, Syndactyly, Macrotia, Broad palm OMIM:618505
Sclerosteosis 1
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... OMIM:269500
Degcags Syndrome
Syndactyly, Tachycardia, Toe syndactyly, Posteriorly rotated ears, Hearing impairment, Microcepha... OMIM:619488
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Yunis-Varon Syndrome
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Short ... OMIM:216340
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Autosomal Recessive Robinow Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilat... ORPHA:1507
Carpenter Syndrome 2
Short digit, Tricuspid regurgitation, Posteriorly rotated ears, Single transverse palmar crease, ... OMIM:614976
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Low-set ears ORPHA:314655
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos OMIM:310600
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... OMIM:619539
Phace Association
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation OMIM:606519
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Posteriorly rotated ears, Mi... OMIM:615948
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Hearing impairment, External ear malformation, Preaxial han... ORPHA:857
Bloom Syndrome
Syndactyly, Microcephaly, Protruding ear, Hand polydactyly, Clinodactyly of the 5th finger, Facia... OMIM:210900
Osteoporosis-Pseudoglioma Syndrome
Microcephaly, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia OMIM:259770
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Broad hallux, Arachnodactyly, Cubitus valgus, Short finger, Microphthalmia OMIM:601552
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Basal ganglia calcification, Bilateral microp... ORPHA:93325
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Choanal Atresia
Polydactyly ORPHA:137914
Helsmoortel-Van Der Aa Syndrome
Broad hallux, Sandal gap, Posteriorly rotated ears, Tapered finger, Cupped ear, Small hand, Heart... OMIM:615873
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Absent septum pellucidum, Aplastic clavicle, Abnormal metacarpal morphology, H... ORPHA:2658
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Holoprosencephaly 1
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agen... OMIM:236100
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Mixed hearing impairment, Broad hallux, Single transverse palmar crease, Progress... OMIM:620186
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Finger syndactyly, Bundle branch block, Congenital hip dislocation, Toe sy... ORPHA:373
Cranioectodermal Dysplasia 2
Syndactyly, Rhizomelia, Simple ear, Postaxial hand polydactyly, Macrocephaly, Hypertension, Polyd... OMIM:613610
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Posteriorly rotated ears, Underdeveloped antitragus, Anteverted ears, Congesti... OMIM:181270
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Aortic regurgitation, Tapered finger, Abnormal toe morphology, Microcephaly, Protr... ORPHA:268261
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bilateral microph... ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Buphthalmos, Hypoplasia o... OMIM:253280
Fontaine Progeroid Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Tricuspid regurgitation, Posteriorly rotated ears, Micr... OMIM:612289
Faciocardiomelic Syndrome
Slender long bone, Polydactyly, Hypoplastic pelvis, Microcephaly OMIM:612731
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Basal ganglia calcification, Subdural hemorrhage, Retinal hemorrha... ORPHA:90324
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Renpenning Syndrome 1
Microcephaly, Macrotia, Cupped ear, Cerebral atrophy, Protruding ear, Camptodactyly, Clinodactyly... OMIM:309500
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adductus, Broad palm, Sh... OMIM:227330
Legius Syndrome
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Macrocephaly... ORPHA:137605
Prader-Willi Syndrome
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d... OMIM:176270
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage, Microcephaly OMIM:308300
Mullegama-Klein-Martinez Syndrome
Microcephaly, Sensorineural hearing impairment, Absent stapes, Microtia, Polydactyly, Atresia of ... OMIM:301022
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cervical cord compression, Conductive hearing impairment, Syndactyly, Broad hallux, Widened dista... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cervical cord compression, Conductive hearing impairment, Syndactyly, Broad hallux, Widened dista... ORPHA:353277
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Abnormal digit morpholog... ORPHA:95494
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Agene... ORPHA:42775
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Preaxial polydactyly ORPHA:163681
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Protruding ear, Macrotia, Bilater... ORPHA:3253
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... ORPHA:2473
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th fing... ORPHA:96182
Monosomy 22
Low-set, posteriorly rotated ears, Finger syndactyly, Single transverse palmar crease, Microcepha... ORPHA:96123
Orofaciodigital Syndrome Type 4
Finger syndactyly, Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Mic... ORPHA:2753
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Sensorineural hearing impairment, Pr... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Postaxial polydactyly, Microcephaly, Sensorineural hearing impairment, Pr... ORPHA:352665
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Mixed hearing impairment, Duplication of thumb pha... ORPHA:2363
Papillorenal Syndrome
Microphthalmia, Sensorineural hearing impairment, Hypertension OMIM:120330
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Protruding ear, Secondary micro... OMIM:618820
Mosaic Trisomy 16
Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Cli... ORPHA:1708
Simpson-Golabi-Behmel Syndrome, Type 1
Cerebellar vermis hypoplasia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Agen... OMIM:312870
Robinow Syndrome
Syndactyly, Brachydactyly, Mixed hearing impairment, Posteriorly rotated ears, Bifid distal phala... ORPHA:97360
Fraser Syndrome 3
Short toe, Hydrocephalus, Cutaneous syndactyly, Low-set ears, Simple ear OMIM:617667
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Cerebral hemorrhage, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Retin... OMIM:175780
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Aplasia/Hy... ORPHA:480880
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Microcephaly, Short thumb, Slender... OMIM:619325
Peters-Plus Syndrome
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... OMIM:261540
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Cupped ear OMIM:110100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Posteriorly rotated ears, Camptodactyly of finger, Micromelia, Coxa valga, Elb... ORPHA:3107
Lymphedema-Distichiasis Syndrome
Microphthalmia, Arrhythmia OMIM:153400
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Cerebral calcification, Cerebral dysmyelination,... ORPHA:191
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand ORPHA:1300
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Rapp-Hodgkin Syndrome
Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Hearing impairment OMIM:129400
Rabson-Mendenhall Syndrome
Cardiomyopathy, Macrotia, Polydactyly ORPHA:769
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Hypoplastic pelvis, Low-set ears OMIM:273395
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Ag... ORPHA:261537
Mckusick-Kaufman Syndrome
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly OMIM:236700
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Mixed hearing impairment, Broad hallux, Absent radius, Short thumb, Parti... OMIM:149730
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Microtia, Conductive hearing impairment, Microphthalmia, Narrow... ORPHA:861
Adult Syndrome
Finger syndactyly, Toe syndactyly, Split foot ORPHA:978
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Wrist swelling, Hip dislocation, Periventricular cysts, Genu valgum, Fin... OMIM:309000
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Protruding ear, Clinodactyly of the ... ORPHA:69085
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... ORPHA:1896
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Short foot, Clinodactyly of ... ORPHA:1974
Isolated Arrhinia
Microphthalmia, Microtia ORPHA:1134
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Dural ecta... OMIM:610168
Holoprosencephaly 2
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia,... OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Ag... ORPHA:261552
Trichorhinophalangeal Syndrome, Type Ii
Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar... OMIM:150230
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macrodactyly, Sudden cardiac death, Metatarsus valgus, Pulmonar... ORPHA:744
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormality of the upper limb, Sho... ORPHA:1556
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hip dislocation, Genu valgum, Buphthalmos, Protruding ear, Umb... ORPHA:534
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... ORPHA:79500
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Short toe, Low-set ears, Abnormal helix morphology, Clinodactyly of the 5th fi... ORPHA:1519
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Palmoplantar hyperkeratos... ORPHA:2907
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... OMIM:617088
Bosma Arhinia Microphthalmia Syndrome
Abnormal pinna morphology, Absent tragus, Atresia of the external auditory canal, Conductive hear... OMIM:603457
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Uplifted earlobe, Calcaneovalgus deformity, Large basal ganglia, Co... ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Posteriorly rotated ears, Micro... OMIM:620330
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Norrie Disease
Aplasia/Hypoplasia of the lens, Microcephaly, Sensorineural hearing impairment, Protruding ear, H... ORPHA:649
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature ORPHA:1521
Mowat-Wilson Syndrome
Uplifted earlobe, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Cupped ear, Larg... OMIM:235730
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Conductive hearing impairment, Protruding ear, Palmoplantar keratoderma, Clino... ORPHA:1071
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, External ear malformation, Low-set ears, Conductive h... ORPHA:2136
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short... ORPHA:2908
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, 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 Gabpa

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 Gabpa.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gabpatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gabpaem2(IMPC)Mbp Indel Mice, Tissue

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