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

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Microcephaly, Brachydactyly, Microphthalmia 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
Cysteine Peptiduria
Abnormal circulating cysteine concentration, Abnormal circulating glycine 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
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Hydrocephalus, Macrocephaly, Postaxial hand polydactyly, Thick corpus callosum, M... OMIM:615938
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Spinal Muscular Atrophy With Impaired Intellectual Development
Microcephaly, Syndactyly OMIM:271109
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... ORPHA:64754
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Hyperhomocystinemia, Methylmalonic acidemia OMIM:613646
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Meckel Syndrome, Type 8
Occipital encephalocele, Anophthalmia, Encephalocele, Polydactyly, Talipes equinovarus, Microceph... OMIM:613885
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Primary microcephaly, Single interphala... OMIM:251255
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Microcephaly, 2-4 toe syndactyly, Syndactyly OMIM:241000
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mmep Syndrome
Microcephaly, Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Congenital Varicella Syndrome
Cerebral cortical atrophy, Microcephaly, Micromelia, Microphthalmia ORPHA:291
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... OMIM:600384
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphtha... OMIM:616570
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus c... OMIM:164180
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... OMIM:102510
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Ho... ORPHA:945
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... OMIM:615771
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Encephalocele, Hydrocephalus, ... ORPHA:1931
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Small thenar emine... OMIM:211960
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... ORPHA:139471
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Microphthalmia With Limb Anomalies
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Micr... OMIM:206920
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... OMIM:610140
Humero-Radial Synostosis
Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Microcephaly, Elbow... ORPHA:3265
Microcephaly-Cardiomyopathy
Clinodactyly of the 5th finger, Microcephaly, Dilated cardiomyopathy, Sandal gap OMIM:251220
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... ORPHA:3268
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Agenesis of cerebellar vermis, Occipital encephalocele OMIM:213010
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly ORPHA:238446
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Microphthalmia OMIM:614082
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Microphthalmia,... OMIM:603194
Joubert Syndrome 22
Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus callosum, 2-3 toe... OMIM:615665
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Meckel Syndrome, Type 4
Encephalocele, Hypoplasia of the corpus callosum, Bowing of the long bones, Microcephaly, Meningo... OMIM:611134
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... OMIM:218670
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rotated ears, Anoph... ORPHA:1104
Seckel Syndrome 2
Basal ganglia calcification, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microcephaly,... OMIM:606744
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... ORPHA:2839
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cardiomyopathy, Hypoplasia of the brainst... OMIM:613155
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Lissencephaly 8
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Hypo... OMIM:617255
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Progressive macrocephaly, Hydrocephalus, Cavum septum pellucidum, Mi... OMIM:602501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Low-set, post... ORPHA:1327
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Macrocephaly, Genu valgum, Hypop... ORPHA:166024
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Hydrolethalus
Low-set ears, Micromelia, Low-set, posteriorly rotated ears, Absent septum pellucidum, Anophthalm... ORPHA:2189
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Microcephaly, Brachydactyly, Short middle phalanx of finger ORPHA:391646
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Septooptic Dysplasia
Optic disc hypoplasia, Short finger, Absent septum pellucidum, Polydactyly, Agenesis of corpus ca... OMIM:182230
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Hypoplastic helices, Clubbing of toes, Ectrodactyly, Low-set, posteriorly ... ORPHA:2437
Schisis Association
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Bardet-Biedl Syndrome 22
Microcephaly, Postaxial foot polydactyly, Macrocephaly, Polydactyly OMIM:617119
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly, Spinal dysraphism ORPHA:1114
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Talipes equinovarus, Microcephal... OMIM:616171
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia OMIM:614830
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... ORPHA:1553
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Xk Aprosencephaly Syndrome
Microphthalmia, Microcephaly, Abnormal morphology of the radius ORPHA:3469
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Split... ORPHA:2117
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Macrocephaly, Syndactyly, Tapered finger OMIM:618725
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Conductive hearing impairm... OMIM:136760
Temtamy Syndrome
Short toe, Aplasia/Hypoplasia of the corpus callosum, Brachydactyly, Macrocephaly, Microphthalmia... ORPHA:1777
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Type II lissencephaly, Macrocephaly at birth, Hydrocephalus, Microphthalmia ORPHA:324416
Intellectual Developmental Disorder, Autosomal Dominant 72
Low-set ears, Microcephaly, Spina bifida, Uplifted earlobe, Macrocephaly, Broad palm, Posteriorly... OMIM:620439
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Walker-Warburg Syndrome
Low-set ears, Abnormal cortical gyration, Polymicrogyria, Microphthalmia, Absent septum pellucidu... ORPHA:899
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... ORPHA:1120
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hypoplasia of the corpus ... OMIM:175700
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Ence... ORPHA:1908
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Clinodactyly, Hearing impairment, Microcephaly, Microphth... OMIM:619981
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Microphthalmia, Syndromic 8
Microcephaly, Split foot, Microphthalmia OMIM:601349
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Hypoplasia of the pons, Prominent ear helix, Large earlobe, Anophthal... ORPHA:411986
Nanophthalmos
Microphthalmia ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly OMIM:615397
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Microphthalmia ORPHA:2528
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Cofs Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Cerebral calcification, Sensorineural hearing... ORPHA:1466
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand ORPHA:2440
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
17Q12 Microduplication Syndrome
Cortical dysplasia, Toe syndactyly, Finger syndactyly, Microphthalmia ORPHA:261272
Trisomy 1Q
Low-set ears, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Anophthalmia, A... ORPHA:261344
Hypomelanosis Of Ito
Radial deviation of finger, Clinodactyly, Cerebral atrophy, Microcephaly, Hand polydactyly, Macro... OMIM:300337
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Microcephaly, Short metatarsal... OMIM:614814
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Pierpont Syndrome
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Hearing impairment... ORPHA:487825
Warburg Micro Syndrome 1
Low-set ears, Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Hypoplasia of the ... OMIM:600118
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Pulmona... OMIM:300887
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Facial Clefting, Oblique, 1
Deep palmar crease, Microphthalmia OMIM:600251
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Trisomy 13
Low-set ears, Abnormal pelvic girdle bone morphology, Abnormal helix morphology, Ectrodactyly, An... ORPHA:3378
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ... OMIM:619091
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Macrocephaly, Sensorineural... ORPHA:3219
Aminopterin Syndrome Sine Aminopterin
Low-set ears, Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Arachno... OMIM:600325
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Abnormal tragus morphology, Postaxial hand polyd... ORPHA:66625
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Microcephaly, Hydrocephalus, Microphthalmia, Tethered cord OMIM:617244
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Macrocephaly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Polymicrog... OMIM:601707
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Solitary Median Maxillary Central Incisor
Microcephaly, Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Pachygyria, Simplified gyr... OMIM:251270
Neu-Laxova Syndrome 2
Toe syndactyly, Finger syndactyly, Cerebellar hypoplasia, Microcephaly, Spina bifida, Rocker bott... OMIM:616038
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Hearing impairment, Large fleshy ears, Microce... OMIM:602342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Hypoplasia of... OMIM:615181
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Syringomyelia, Hydrocephalus,... OMIM:207950
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w... ORPHA:163966
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Polymicrogyria, Macrocephaly, Mitral regurgitation, Hypoplasia of the cor... OMIM:603387
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Periventricular Nodular Heterotopia 1
Clinodactyly, Short finger, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral he... OMIM:300049
Microphthalmia, Syndromic 13
Microcephaly, Anteverted ears, Microphthalmia OMIM:300915
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Microcephaly, Microphthalmia, Camptodactyly, Thin corpus ... OMIM:619694
Adams-Oliver Syndrome 2
Low-set ears, Cerebral atrophy, Polymicrogyria, Absent distal phalanges, Single transverse palmar... OMIM:614219
Joubert Syndrome 16
Encephalocele, Dandy-Walker malformation, Polydactyly OMIM:614465
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Hearing impairment, Camptodactyly of finger ORPHA:376
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:613153
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Mac... ORPHA:3210
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Agenesis... ORPHA:93267
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly ORPHA:77298
Chromosome 17P13.1 Deletion Syndrome
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arachnodactyly, Diffuse c... OMIM:613776
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the 4th f... OMIM:618914
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... OMIM:161200
Nephronophthisis 15
Cerebellar vermis hypoplasia, Polydactyly OMIM:614845
Cerebrooculofacioskeletal Syndrome 4
Low-set ears, Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contra... OMIM:610758
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Cupped ear, Finger syndactyly, Hearing impairment, Atresia of the external audito... ORPHA:264200
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Focal Dermal Hypoplasia
Low-set ears, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal e... ORPHA:2092
Cerebrooculonasal Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Conductive hearing impairment, Anophthalmia, Hypoplas... OMIM:605627
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Low-set, poster... ORPHA:1926
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Grange Syndrome
Aortic regurgitation, Hypertension, Short palm, Syndactyly ORPHA:79094
20P13 Microdeletion Syndrome
Low-set ears, Hypoplastic helices, Finger syndactyly, Clinodactyly, Polydactyly, Microcephaly, Br... ORPHA:313781
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Cousin Syndrome
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... OMIM:260660
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Conductive hearing impairment, Recurrent otitis media, Polydactyly, Microcephaly, H... OMIM:616910
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Low-set ears, Clinodactyly, Macrocephaly, Genu valgum, Hypoplasia of the co... OMIM:607131
Monosomy 5P
Low-set, posteriorly rotated ears, Microcephaly, Small hand, Finger syndactyly ORPHA:281
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... OMIM:615249
Mosaic Trisomy 9
Low-set ears, Elbow dislocation, Finger clinodactyly, Camptodactyly of finger, Micromelia, Talipe... ORPHA:99776
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Abnormal cortical gyration, Elbow dislocation, Short thumb, Ectrodactyly, Olig... ORPHA:2538
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Ove... ORPHA:508498
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Hearing impairment, Spina bifida ORPHA:2345
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Agenesis of corpus callosum, Bowing of the long bones, T... OMIM:614815
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, Preaxial hand polydactyly,... ORPHA:564
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Calcification of falx cerebri, Microphthalmia, Po... OMIM:109400
Joubert Syndrome 14
Low-set ears, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar v... OMIM:614424
Bresek Syndrome
Low-set ears, Hearing impairment, Protruding ear, Microcephaly, Hydrocephalus, Microphthalmia, Po... ORPHA:85284
Sclerosteosis
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... ORPHA:3152
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Adams-Oliver Syndrome
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Absent hand, Port... ORPHA:974
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Cerebellar hypoplasia... OMIM:614175
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Terminal Osseous Dysplasia
Toe clinodactyly, Low-set ears, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s... OMIM:300244
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Cerebrocostomandibular Syndrome
Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory canal, Myelomeni... ORPHA:1393
Trisomy 18
Deviation of finger, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Low-set,... ORPHA:3380
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Bardet-Biedl Syndrome 16
Recurrent otitis media, Hearing impairment, Polydactyly OMIM:615993
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Congenital Toxoplasmosis
Hearing impairment, Cerebral calcification, Microcephaly, Hydrocephalus, Microphthalmia ORPHA:858
Bartsocas-Papas Syndrome 2
Low-set ears, Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Microphthalmi... OMIM:619339
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Preaxial polydactyly, Macrotia, Overlapping toe, Overlapping fingers, Hypoplasia of... OMIM:618142
Sandestig-Stefanova Syndrome
Low-set ears, Clinodactyly, Underdeveloped tragus, Bilateral single transverse palmar creases, Hy... OMIM:618804
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Oligodactyly, H... OMIM:251230
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Temtamy Syndrome
Aortic regurgitation, Low-set ears, Microphthalmia, Lop ear, Agenesis of corpus callosum, Talipes... OMIM:218340
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Brachydactyly, Osteolysis involvi... ORPHA:88630
Vacterl With Hydrocephalus
Microtia, third degree, Anotia, Anophthalmia, Hypoplasia of the radius, Hydrocephalus, Microphtha... ORPHA:3412
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Protruding ear, Clinodactyly of the 5th finger, Relative macrocephaly, Upper limb as... ORPHA:231140
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Cerebral atrophy, Postaxial polydactyly,... OMIM:258860
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Tricuspid regurgitation, Umbilical hernia, An... ORPHA:1101
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger ORPHA:2547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Finger syndactyly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia ... ORPHA:60040
Orofaciodigital Syndrome Xvii
Low-set ears, Clinodactyly, Hearing impairment, Partial duplication of thumb phalanx, Short middl... OMIM:617926
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Talipes equinovaru... ORPHA:63259
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Microcephaly, Rocker bottom foot, Camptodactyly of finger OMIM:610756
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Protruding ear... ORPHA:2251
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Hyperintensity of cerebral white matter on MRI, Finger joint contractu... ORPHA:48431
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Age... OMIM:256520
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Microcephaly, Brachydactyly, Microphthalmia, Holop... ORPHA:1598
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Charlie M Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly... ORPHA:1406
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Holoprosencephaly
Spinal dysraphism, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Branchial anomaly, Anopht... ORPHA:2162
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Complete duplication o... ORPHA:363417
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly ORPHA:99742
Martsolf Syndrome 1
Low-set ears, Talipes equinovarus, Broad fingertip, Microphthalmia, Finger joint hypermobility, S... OMIM:212720
Bardet-Biedl Syndrome 19
Postaxial foot polydactyly, Hearing impairment, Mesoaxial hand polydactyly, Hypoplasia of the cor... OMIM:615996
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syringomyelia, Congenital bilateral hip dislocation, Cerebral cortical atrophy, Syndactyly ORPHA:404451
Cat-Eye Syndrome
Microphthalmia, Hearing impairment, Hip dysplasia ORPHA:195
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Elbow flexion contracture, Basal ganglia calcification, Second met... OMIM:214150
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Neurooculocardiogenitourinary Syndrome
Low-set ears, Tricuspid regurgitation, Secondary microcephaly, Sensorineural hearing impairment, ... OMIM:618652
Baraitser-Winter Syndrome 2
Hearing impairment, Secondary microcephaly, Agenesis of corpus callosum, Microphthalmia, Pachygyr... OMIM:614583
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hearing impairment, Microphthalmia OMIM:120433
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Clinodactyly, Large fleshy ears, Arachnodactyly, Microcephaly, Overfolded helix, Sy... OMIM:619092
Mosaic Trisomy 1
Low-set ears, Hand clenching, Toe syndactyly, Broad 2nd toe, Agenesis of corpus callosum, Arachno... ORPHA:1692
Focal Dermal Hypoplasia
Low-set ears, Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Telangiectasia, Micropht... OMIM:305600
3Q29 Microduplication Syndrome
Low-set ears, Toe syndactyly, Sandal gap, Hearing impairment, Aniridia, Camptodactyly of toe, Mic... ORPHA:251038
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Microphthalmia, Syndromic 6
Low-set ears, Inferior cerebellar vermis hypoplasia, Toe syndactyly, Finger syndactyly, Hearing i... OMIM:607932
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Warburg Micro Syndrome 2
Global brain atrophy, Polymicrogyria, Secondary microcephaly, Overlapping toe, Asymmetry of the e... OMIM:614225
Pfeiffer Syndrome Type 1
Low-set ears, Broad thumb, Toe syndactyly, Finger syndactyly, Hearing impairment, Aplasia/Hypopla... ORPHA:93258
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Cupped ear, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the ulna, Absent radius,... ORPHA:1352
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphtha... OMIM:614833
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly ... ORPHA:2994
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Cardiomyopat... ORPHA:370959
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, Cerebral white matter atrophy,... ORPHA:435638
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Cerebellar hypoplasia, Microphthalmia OMIM:613730
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly ORPHA:1445
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Anophthalmia, Hypoplasia of the corpus callosum, Contractu... OMIM:300166
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly OMIM:600151
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Hydrocephalus, Macrocephaly, Agenesis of cerebellar vermis, Short... ORPHA:59315
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Low-set, posteriorly rotated... ORPHA:3447
Ring Chromosome 10 Syndrome
Low-set ears, Sandal gap, Large earlobe, Abnormal antihelix morphology, Microphthalmia, Tapered f... ORPHA:1438
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Craniofrontonasal Dysplasia
Finger syndactyly, Sandal gap, Camptodactyly of finger, Hypoplasia of the corpus callosum, Down-s... ORPHA:1520
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Genu valgum, Encephalocele, Pos... OMIM:611560
Rubinstein-Taybi Syndrome 2
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro... OMIM:613684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Low-set ears, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Microphthalmia,... OMIM:614643
Houge-Janssens Syndrome 2
Broad hallux, Deviation of the 5th finger, Hypoplasia of the corpus callosum, Agenesis of corpus ... OMIM:616362
Triokinase And Fmn Cyclase Deficiency Syndrome
Cerebellar hypoplasia, Dilated cardiomyopathy, Reduced systolic function, Microphthalmia OMIM:618805
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win... OMIM:609945
6P22 Microdeletion Syndrome
Low-set ears, Finger syndactyly, Clinodactyly, Hearing impairment, Hydrocephalus, Overfolded helix ORPHA:251046
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos ORPHA:77299
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Frontorhiny
Cranium bifidum occultum, Finger clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Camptod... ORPHA:391474
Holt-Oram Syndrome
Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Low-set, posteriorly rotat... ORPHA:261318
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Joubert Syndrome 33
Macrocephaly, Syndactyly OMIM:617767
Heart And Brain Malformation Syndrome
Low-set ears, Hand clenching, Cerebellar vermis hypoplasia, Global brain atrophy, Cerebral atroph... OMIM:616920
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Abnormality of the wrist, Abnormal thumb morphology, Sensorineural hearing imp... ORPHA:1825
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Low-set ears, Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalo... OMIM:607597
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Sensorineural hearing impairment, Microcephaly, Microphthalmia, A... ORPHA:290
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... ORPHA:85167
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitatio... OMIM:619879
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia OMIM:602361
Ritscher-Schinzel Syndrome 3
Cerebellar vermis hypoplasia, Short 1st metacarpal, Relative macrocephaly, Short first metatarsal... OMIM:619135
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... ORPHA:175
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Hearing impairment, Genu valgum, Arachnodactyly, Postaxial... OMIM:619721
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Hearing impairment, Overlapping toe, Distally placed thumb, Encephalocele, Single tr... OMIM:619148
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Campomelic Dysplasia
Delayed epiphyseal ossification, Low-set ears, Hypoplastic scapulae, Hearing impairment, Shorteni... OMIM:114290
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Garg-Mishra Progeroid Syndrome
Slender long bone, Slender metacarpals, Secondary microcephaly, Microphthalmia, Broad palm, Coxa ... OMIM:620601
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Syndactyly OMIM:615284
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617914
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Hallermann-Streiff Syndrome
Low-set ears, Slender long bone, Telangiectasia, Microcephaly, Abnormality of the hand, Pulmonary... OMIM:234100
Cockayne Syndrome Type 2
Macrotia, Anophthalmia, Subcortical white matter calcifications, Hearing impairment ORPHA:90322
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Stevenson-Carey Syndrome
Low-set ears, Joint contracture of the hand, Microphthalmia, Hypoplasia of the corpus callosum, C... OMIM:611961
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cavum septum pellucidum, Macrocephaly, Congenital sensorineural hearing impairment, Microphthalmi... OMIM:617306
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Cerebellar vermis hypoplasia, Prominent fingertip pads, Cerebral atrophy, Polymicro... OMIM:618494
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Hearing impairment, Microphthal... ORPHA:84
Fanconi Anemia, Complementation Group S
Microcephaly, Proximal placement of thumb, Clinodactyly, Microphthalmia OMIM:617883
Joubert Syndrome 37
Low-set ears, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Postaxial polydact... OMIM:619185
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Talipes... ORPHA:250989
Pseudotrisomy 13 Syndrome
Low-set ears, Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Agenesis of corpus callo... OMIM:264480
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Limb-Mammary Syndrome
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly OMIM:603543
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Acrofrontofacionasal Dysostosis 2
Low-set ears, Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, Overfolded helix, Poster... OMIM:239710
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Low-set ears, Agenesis of corpus callosum, Sensorineural hearing impairmen... OMIM:243310
2Q31.1 Microdeletion Syndrome
Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger... ORPHA:251014
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Agenesis of corpus callosum, Cerebel... OMIM:277170
Laurence-Moon Syndrome
Finger syndactyly, Low-set, posteriorly rotated ears, Bilateral single transverse palmar creases,... ORPHA:2377
Developmental And Epileptic Encephalopathy 1
Microcephaly, Global brain atrophy, Microphthalmia OMIM:308350
Neu-Laxova Syndrome
Abnormal cortical gyration, Micromelia, Polymicrogyria, Macrotia, Cerebral calcification, Absent ... ORPHA:2671
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Oculofaciocardiodental Syndrome
Short thumb, Hearing impairment, Genu valgum, Flexion contracture of the 4th toe, Sensorineural h... ORPHA:2712
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Hypoplasia of the corpus callosum, Single transverse palmar crease, Microcephaly, M... OMIM:614105
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... OMIM:605282
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Fraser Syndrome 1
Low-set ears, Abnormal cortical gyration, Cupped ear, Atresia of the external auditory canal, Bil... OMIM:219000
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Low-set ears, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5t... ORPHA:397590
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Recurrent otitis media, Short 5th metacarpal, Umbil... OMIM:169400
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Prominent antihelix, Holoprosencephaly, Und... OMIM:610829
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Flattened epiph... ORPHA:163649
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Spinal dysraphism, Mitral stenosis, Sensorineural hearing impairment, Micr... OMIM:617660
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Oculogastrointestinal Neurodevelopmental Syndrome
Simple ear, Microcephaly, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Clinodactyly of the 2nd finger, Diaphyseal undertubulation, Finger joint hypermobil... OMIM:620663
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hearing impairment, Recurrent otitis media, Microcephaly, Abnormal palmar dermatoglyphics, Microp... ORPHA:2728
Jacobsen Syndrome
Aortic valve stenosis, Toe clinodactyly, Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Fing... ORPHA:2308
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly, Microphthalmia OMIM:614526
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Chromosome 3Pter-P25 Deletion Syndrome
Low-set ears, Hearing impairment, Overlapping toe, Postaxial polydactyly, Microcephaly, Macular h... OMIM:613792
Femoral-Facial Syndrome
Low-set ears, Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Age... OMIM:134780
Otopalatodigital Syndrome, Type Ii
Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers... OMIM:304120
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Low-set, posteriorly rotated ears, Bilateral single transverse palmar... ORPHA:3191
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Cerebral atrophy, Ove... ORPHA:464738
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal corpus callosum morphology, Cerebral cortical atrophy, Low-set ears, Toe syndactyly, Fin... ORPHA:3224
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Hydranencephaly, Hypoplasia of the brainstem, Single transverse palmar crease, 2-3 ... OMIM:236500
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Microcephaly, Cutaneous... OMIM:272440
Marden-Walker Syndrome
Low-set ears, Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Hypoplasia of... OMIM:248700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Polymicrogyria, Cerebral calcification, Hypoplasia of the corpus ca... OMIM:616538
Aicardi Syndrome
Cerebellar vermis hypoplasia, Polymicrogyria, Microphthalmia, Microcephaly, Spina bifida, Cavum s... OMIM:304050
Matthew-Wood Syndrome
Low-set ears, Anophthalmia, Microphthalmia ORPHA:2470
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Microcephaly, Anteverted ears, Macrotia ORPHA:544254
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Congenital Fibrinogen Deficiency
Microphthalmia, Tachycardia, Internal hemorrhage, Clubbing of fingers ORPHA:335
Suleiman-El-Hattab Syndrome
Low-set ears, Clinodactyly, Hearing impairment, Single transverse palmar crease, Polydactyly, Pro... OMIM:618950
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte... OMIM:146510
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of t... OMIM:617895
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Absent septum pellucidum, Agenesis of corpus cal... OMIM:609053
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal... OMIM:186500
Waardenburg Syndrome Type 1
Congenital sensorineural hearing impairment, Meningocele, Hearing impairment, Spina bifida ORPHA:894
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Oculo-Palato-Cerebral Syndrome
Small hand, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Fronta... ORPHA:2714
Microphthalmia, Lenz Type
Finger syndactyly, Hearing impairment, Camptodactyly of finger, Abnormal shoulder morphology, Apl... ORPHA:568
Monosomy 13Q14
Low-set ears, Finger syndactyly, Hypoplasia of the corpus callosum, Protruding ear, Aplasia/Hypop... ORPHA:1587
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Low-set, posteriorly rotated ears, Umbilical hernia, Microcephaly, Micr... ORPHA:2505
Hoxha-Aliu Syndrome
Low-set ears, Overlapping toe, Absent fifth metatarsal, Uplifted earlobe, Short distal phalanx of... OMIM:620662
Myoclonic-Astatic Epilepsy
Microphthalmia, Microcephaly, Syndactyly ORPHA:1942
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Acrootoocular Syndrome
Low-set ears, Small hypothenar eminence, Conductive hearing impairment, Short toe, Sandal gap, Sh... ORPHA:2980
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Macrotia, Syndactyly OMIM:613576
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... OMIM:217085
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum... OMIM:206900
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Cerebral atrophy, Single transverse palmar crease, Agenesis of corpus callosum, 2-3... OMIM:616449
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Sandal gap, Cerebellar hypoplasia, Talipes equinovarus, Microcephaly, Microphthalmi... OMIM:612530
Kapur-Toriello Syndrome
Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Short thumb, Camptoda... OMIM:244300
Teebi-Shaltout Syndrome
Aortic valve stenosis, Low-set ears, Hypoplastic helices, Caudal appendage, Single transverse pal... OMIM:272950
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cutis Laxa, Autosomal Recessive, Type Iie
Hearing impairment, Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger... OMIM:619451
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Cloacal Exstrophy
Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... OMIM:101600
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Low-set ears, Prominent fingertip pads, Joint contracture of the 5th finger, Single transverse pa... OMIM:620098
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia OMIM:257910
Congenital Sialidosis Type 2
Low-set ears, Hearing impairment, Abnormal EKG, Umbilical hernia, Polydactyly, Telangiectasia, Hy... ORPHA:93400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Brachydactyly, Syndactyly OMIM:616589
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Triploidy
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Macrocephaly, Mening... ORPHA:3376
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Clinodactyly of the 5th finger, Cupped ear, Microphthalmia OMIM:167730
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus callo... OMIM:614222
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap OMIM:612918
Adams-Oliver Syndrome 1
Aortic valve stenosis, Toe syndactyly, Polymicrogyria, Periventricular leukomalacia, Encephalocel... OMIM:100300
Nance-Horan Syndrome
Protruding ear, Short metacarpal, Microphthalmia ORPHA:627
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Toe syndactyly, Finger syndactyly, Cerebral calcification, Arachnodactyly, Microcep... ORPHA:73246
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ... OMIM:608940
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Small hand, Hypoplasia of the corpus callosum, Microcephaly, Microphthalmia, Short ... OMIM:241410
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Branchial cyst, Single transverse palmar crease, Sensorineural hearing impairm... ORPHA:435938
Deafness, X-Linked 7
Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear... OMIM:301018
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Cupped ear, Bilateral microphthalmos, Abnormality of cartilage of external ear, Mic... ORPHA:2399
Tyrosinosis
Hypertyrosinemia OMIM:276800
Refsum Disease
Abnormal epiphysis morphology, Cardiomyopathy, Sensorineural hearing impairment, Short metacarpal... ORPHA:773
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Atresia of the external ... ORPHA:3429
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bowing, Absent septum... OMIM:612651
Epidermolysis Bullosa, Lethal Acantholytic
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... OMIM:609638
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Relative macrocephaly, Hypoplastic pelvis, Encepha... OMIM:616300
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Alkuraya-Kucinskas Syndrome
Low-set ears, Hand clenching, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia... OMIM:617822
Cockayne Syndrome Type 1
Hearing impairment, Basal ganglia calcification, Anophthalmia, Absent brainstem auditory response... ORPHA:90321
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... ORPHA:1515
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Low-set ears, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Microc... OMIM:600987
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Bifid femur, Hearing impairment, Umbilical hernia, Abnormal t... ORPHA:138
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia OMIM:619053
Schizophrenia 1
Protruding ear, Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Relative macrocephaly, Monkey wrench femoral... OMIM:615777
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Microphthalmia ORPHA:1473
Fraser Syndrome
Toe syndactyly, Conductive hearing impairment, Finger syndactyly, Atresia of the external auditor... ORPHA:2052
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Phakomatosis Pigmentokeratotica
Arrhythmia, Hemiatrophy, Raynaud phenomenon, Spina bifida ORPHA:2874
Skin Creases, Congenital Symmetric Circumferential, 1
Low-set ears, Hypoplasia of the corpus callosum, Microcephaly, Long fingers, Microphthalmia, Over... OMIM:156610
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Congestive heart failure, Camptodactyly of finger, Low-set, poster... ORPHA:915
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of... ORPHA:1005
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Clinodactyly, Bilateral microphthalmos, Hearing impairment, Umbilical hernia, Abnor... ORPHA:369891
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Low-set ears, Broad distal phalanx of finger, Sandal gap OMIM:615761
White Forelock With Malformations
Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Spina bifida occulta, Finger s... ORPHA:2475
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Brachydactyly, Microphthalmia OMIM:618727
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... OMIM:212780
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Sandal gap, Abnormal hip bone morphology, ... ORPHA:193
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Pos... ORPHA:404440
Tarp Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Prominent antihelix, Subdural hemorrhage, Clinodactyl... OMIM:311900
9Q21.13 Microdeletion Syndrome
Syringomyelia, Hip dysplasia, Aplasia/Hypoplasia of the corpus callosum, Polydactyly ORPHA:531151
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Hypoplasia of the b... OMIM:253800
Familial Exudative Vitreoretinopathy
Hearing impairment, Microcephaly, Vitreous hemorrhage, Retinal neovascularization, Macular telang... ORPHA:891
Stromme Syndrome
Cerebellar vermis hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Cerebellar hypop... OMIM:243605
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
3Q29 Microdeletion Syndrome
Low-set ears, Microcephaly, Pulmonary arterial hypertension, Macrocephaly, Microphthalmia, Clinod... ORPHA:65286
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Toe clinodactyly, Low-set ears, Conductive hearing impairment, Finger synda... ORPHA:254346
22Q11.2 Deletion Syndrome
Low-set ears, Hypertensive crisis, Gastrointestinal hemorrhage, Small earlobe, Conductive hearing... ORPHA:567
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Rubinstein-Taybi Syndrome 1
Low-set ears, Broad thumb, Hearing impairment, Hypoplastic iliac wing, Agenesis of corpus callosu... OMIM:180849
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Overlappi... ORPHA:401973
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
ERI1-related disease
Low-set ears, Conductive hearing impairment, Tricuspid regurgitation, Slender metacarpals, Oligod... OMIM:608739
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Type II lissencephaly, Microphthalmia, Encephalocele, Agenesis of co... OMIM:613150
Galloway-Mowat Syndrome 3
Low-set ears, Cerebral atrophy, Pachygyria, Hypoplasia of the corpus callosum, Arachnodactyly, Mi... OMIM:617729
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Methylcobalamin Deficiency Type Cble
Clinodactyly, Hearing impairment, Hypoplasia of the brainstem, Microcephaly, Abnormal cerebral wh... ORPHA:2169
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hearing impairment, Atresia of the external auditory canal, Foot polydactyly, Aplasia/Hypoplasia ... ORPHA:3186
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hearing impairment, Abnormal earlobe morphology, Hypertrophic cardiomyopa... ORPHA:2556
Joubert Syndrome 2
Abnormal corpus callosum morphology, Low-set ears, Postaxial foot polydactyly, Hypoplasia of the ... OMIM:608091
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Acrofacial Dysostosis, Catania Type
Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bifida occulta, ... ORPHA:1786
Joubert Syndrome 21
Occipital encephalocele, Hypoplasia of the brainstem, Anophthalmia, Hypoplasia of the corpus call... OMIM:615636
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Low-set ears, Small hand, 2-4 toe cutaneous syndactyly,... OMIM:257850
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Koolen-De Vries Syndrome Due To A Point Mutation
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Macrotia, Recurrent otitis media, Hearin... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Dural ectasia, Prominent fingertip pads, Cardiomyopathy, Macrotia, Recurrent otitis media, Hearin... ORPHA:363958
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Fibular aplasi... ORPHA:3320
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Cerebellar hypoplasia, Microcephaly, Anteverted ears, Syndactyly OMIM:618087
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Prea... ORPHA:90652
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hearing impairment, Hemiatrophy, Stippled cal... OMIM:302960
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Joubert Syndrome 27
Polydactyly OMIM:617120
Oculodentodigital Dysplasia
Conductive hearing impairment, Clinodactyly, 3-4 toe syndactyly, Basal ganglia calcification, Joi... OMIM:164200
Pfeiffer Syndrome Type 2
Deviation of the thumb, Low-set ears, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly,... ORPHA:93259
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Agenesis of corpus... ORPHA:3472
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Mend Syndrome
Aortic valve stenosis, Low-set ears, Broad hallux, Overlapping toe, Overlapping fingers, Polydact... OMIM:300960
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Low-set ears, Encephalocele, Agenesis of corpus callosum, Microphthalmia, Agenesis of cerebellar ... ORPHA:228390
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Conductive hearing impairment, Microcephaly, 2-3 finger syndactyly, Hy... OMIM:603467
Nance-Horan Syndrome
Short phalanx of finger, Macrotia, Broad finger, Microphthalmia OMIM:302350
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... OMIM:613573
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Pagod Syndrome
Encephalocele, Microcephaly, Arrhythmia, Spina bifida, Meningocele, Sudden cardiac death ORPHA:991
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Stapes ankylosis, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar s... OMIM:614701
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Abnormal antihelix morphology, Brachydactyly, Split hand, Microtia ORPHA:2145
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hearing impairment... ORPHA:1647
Galloway-Mowat Syndrome 1
Low-set ears, Hand clenching, Joint contracture of the hand, Slender finger, Cerebral atrophy, Pa... OMIM:251300
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... ORPHA:166119
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Hypoplasia of the ear cartilage, Broad thumb, Camptodactyly of finger, Large earlobe, Bilateral s... ORPHA:1236
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... ORPHA:2334
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... ORPHA:3258
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Protruding ear, Hypoplasia of t... ORPHA:2256
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Frontonasal Dysplasia 3
Low-set ears, Posteriorly rotated ears, Microphthalmia OMIM:613456
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebella... OMIM:613001
Silver-Russell Syndrome 3
Low-set ears, Small hand, Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly OMIM:616489
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Neurofibromatosis, Type I
Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Macrocephaly, Aqueductal stenosi... OMIM:162200
8Q21.11 Microdeletion Syndrome
Low-set ears, Finger syndactyly, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, C... ORPHA:284160
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Chromosome 8Q21.11 Deletion Syndrome
Low-set ears, Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Protruding ear... OMIM:614230
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Occipital encephalocele, Abnormal basal ganglia morphology, Cerebellar vermis hypop... ORPHA:397715
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Conductive hearing impairment, Finger clinodactyly, Preaxial polyda... ORPHA:2754
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Conductive hearing impairment, Finger syndactyly, Umbilical hernia, B... ORPHA:1001
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Macrocephaly OMIM:615085
Microphthalmia, Syndromic 9
Low-set ears, Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis OMIM:601186
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Tricuspid regurgitation, Arachnodactyly, Bowing of the long bones, Microcephaly, Pu... OMIM:614437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Occipital encephalocele, Atresia of the external auditory canal, Polymicrogyria, Ty... OMIM:236670
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda... ORPHA:710
Charge Syndrome
Low-set ears, Unilateral microphthalmos, Anophthalmia, Sensorineural hearing impairment, Micropht... OMIM:214800
Incontinentia Pigmenti
Cerebral cortical atrophy, Deviation of finger, Finger syndactyly, Congestive heart failure, Camp... ORPHA:464
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Mycophenolate Mofetil Embryopathy
Hearing impairment, Atresia of the external auditory canal, Anotia, Agenesis of corpus callosum, ... ORPHA:268249
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Microcephaly, Protruding ear, Simplified gyral pattern OMIM:152950
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of the olfactory bulb, Anophthalmia, Microphthalmia ORPHA:2250
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Microtia, Hearing impairment, Syndactyly OMIM:616006
Oliver Syndrome
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... ORPHA:2920
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Macrotia ORPHA:66629
Kbg Syndrome
Bilateral conductive hearing impairment, Finger clinodactyly, Single transverse palmar crease, Mi... ORPHA:2332
Rothmund-Thomson Syndrome, Type 3
Short distal phalanx of finger, Hypoplasia of the corpus callosum, Talipes equinovarus, Microceph... OMIM:615789
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal p... ORPHA:1234
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Low-set ears, Pulmonic stenosis, Hydrocephalus, Dandy-Walker malformation,... OMIM:220210
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Rere-Related Neurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Hearing impairment, Low-set, posteriorly rotated ears, Hypoplasia o... ORPHA:494344
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb, Macrocephaly OMIM:618874
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Encephalocele, Cerebellar hypoplasia... ORPHA:2166
Branchiooculofacial Syndrome
Low-set ears, Conductive hearing impairment, Short thumb, Hearing impairment, Preaxial hand polyd... OMIM:113620
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Cupped ear, Spina bifida, Thin corpus callosum, Partial agenesis of the corpus call... OMIM:619480
8Q22.1 Microdeletion Syndrome
Low-set ears, Sandal gap, Finger syndactyly, Camptodactyly of finger, Abnormal antihelix morpholo... ORPHA:178303
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Spondylo-Ocular Syndrome
Low-set ears, Abnormal antihelix morphology, Aplasia/Hypoplasia of the lens, Microphthalmia, Thic... ORPHA:85194
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly OMIM:149000
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat... OMIM:142900
Atelis Syndrome 2
Low-set ears, Clinodactyly, Single transverse palmar crease, Protruding ear, Microcephaly, Vitreo... OMIM:620185
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Sma... ORPHA:96334
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Abnormal helix morphology, Cardiomyopathy, Camptodactyly of toe, 2-3 finger sy... ORPHA:158687
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Joubert Syndrome 39
Postaxial polydactyly, Cerebellar vermis hypoplasia, Occipital encephalocele, Joint contracture o... OMIM:619562
Frontofacionasal Dysplasia
Encephalocele, Hypoplasia of olfactory tract, Hypoplasia of the corpus callosum, Microphthalmia ORPHA:1791
Waardenburg Syndrome, Type 1
Myelomeningocele, Congenital sensorineural hearing impairment, Hypoplastic iris stroma, Spina bifida OMIM:193500
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Bilateral... ORPHA:468631
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Umbilical hernia, ... ORPHA:2311
Orofaciodigital Syndrome I
Low-set ears, Abnormal cortical gyration, Clinodactyly, Radial deviation of finger, Cerebral atro... OMIM:311200
Rubinstein-Taybi Syndrome
Low-set ears, Clubbing of toes, Broad thumb, Finger syndactyly, Hearing impairment, Abnormal dist... ORPHA:783
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Miller-Dieker Lissencephaly Syndrome
Low-set ears, Joint contracture of the hand, Midline brain calcifications, Pachygyria, Single tra... OMIM:247200
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Polymicrogyria... OMIM:616546
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Clinodactyly, Cardiomyopathy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, B... OMIM:217980
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cerebellar vermis hypoplasia, Low-set ears, Polymicrogyria OMIM:612379
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Postaxial Acrofacial Dysostosis
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... ORPHA:246
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Warburg Micro Syndrome 4
Cerebral cortical atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthal... OMIM:615663
Kapur-Toriello Syndrome
Low-set ears, Atresia of the external auditory canal, Polymicrogyria, Dysplastic corpus callosum,... ORPHA:2328
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Large earlobe, Overlapping toe, Overlapping fingers, Underfolded helix, Long toe, C... OMIM:618316
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Cerebral atrophy, Hypoplasia of the corpus callosum, Postaxial polyda... OMIM:614576
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Ventricular tac... OMIM:300952
Fanconi Anemia, Complementation Group D2
Low-set ears, Absent thumb, Short thumb, Hearing impairment, Preaxial hand polydactyly, Partial d... OMIM:227646
Steinfeld Syndrome
Hearing impairment, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hypoplasia of the... OMIM:184705
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... OMIM:600145
Micro Syndrome
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosu... ORPHA:2510
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Hearing impairment, Microcephaly, Absent radius, Microphthalmia, Compl... OMIM:600901
Fanconi Anemia, Complementation Group N
Absent thumb, Short thumb, Microcephaly, Hypoplasia of the radius, Microphthalmia OMIM:610832
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Filippi Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Micro... ORPHA:3255
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Microcephaly, Biparietal narrowing, Microphthalmia ORPHA:1915
Apert Syndrome
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hear... OMIM:101200
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Cerebral cortical atrophy, Abnormal cortical gyration, Cessation of head growth, Si... OMIM:617527
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Hearing impairment, Syndactyly OMIM:619736
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosum, Hydrocephalus, Microphthalm... ORPHA:3301
Acrofacial Dysostosis, Palagonia Type
Low-set ears, Small hand, Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Posterio... ORPHA:1787
Bohring-Opitz Syndrome
Low-set ears, Short toe, Hypoplasia of the brainstem, Overlapping toe, Mesomelic/rhizomelic limb ... OMIM:605039
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Cone-shaped epiphysis, Clinodactyly, Short toe, Short finger... OMIM:139210
Monosomy 9Q22.3
Low-set ears, Palmar pits, Umbilical hernia, Macrocephaly, Calcification of falx cerebri, Polydac... ORPHA:77301
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Acrocardiofacial Syndrome
Low-set ears, Cerebral cortical atrophy, Toe syndactyly, Finger syndactyly, Camptodactyly of fing... ORPHA:2008
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia OMIM:193220
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Low-set ears, Inferior cerebellar vermis hypoplasia, Overlapping toe, Protruding ear, Microphthalmia OMIM:618571
Trichothiodystrophy 4, Nonphotosensitive
Cerebral cortical atrophy, Microcephaly, Microphthalmia, Partial agenesis of the corpus callosum,... OMIM:234050
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Cri-Du-Chat Syndrome
Low-set ears, Hearing impairment, Single transverse palmar crease, Microcephaly, Abnormal pinna m... OMIM:123450
Meckel Syndrome, Type 1
Low-set ears, Cerebral hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Clinodact... OMIM:249000
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Kury-Isidor Syndrome
Low-set ears, Finger syndactyly, Recurrent otitis media, Talipes equinovarus, Brachydactyly, Hip ... OMIM:619762
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Cutaneous synda... OMIM:601005
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Hearing impairment, Microcephaly, Absent radius, Microphthalmia, Compl... OMIM:227650
Chromosome 13Q14 Deletion Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Overlapping toe, Absent septum pellucidum, Hy... OMIM:613884
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Conductive hearing impairment, Finger clinodactyly, Camptodactyly of fi... ORPHA:306542
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Fg Syndrome Type 1
Cupped ear, Clinodactyly of the 2nd finger, Finger syndactyly, Aplasia/Hypoplasia of the corpus c... ORPHA:93932
Adnp Syndrome
Low-set ears, Broad thumb, Sandal gap, Broad hallux, Cerebral atrophy, Umbilical hernia, Single t... ORPHA:404448
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia involving... OMIM:308050
Ring Chromosome 12 Syndrome
Low-set ears, Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Microceph... ORPHA:1439
Aarskog-Scott Syndrome
Short 5th finger, Clinodactyly, Radial deviation of finger, Large earlobe, Single transverse palm... OMIM:305400
X-Linked Dominant Chondrodysplasia Punctata
Low-set ears, Epiphyseal stippling, Sensorineural hearing impairment, Talipes equinovarus, Abnorm... ORPHA:35173
Ohdo Syndrome, X-Linked
Low-set ears, Short thumb, Clinodactyly, Hearing impairment, Overlapping toe, Long thumb, Ulnar d... OMIM:300895
Microphthalmia, Syndromic 1
Low-set ears, Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial devia... OMIM:309800
Adams-Oliver Syndrome 5
Umbilical hernia, Pulmonary arterial hypertension, Brachydactyly, Pulmonic stenosis, Syndactyly OMIM:616028
Pfeiffer Syndrome Type 3
Low-set ears, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hearing impairment, Hal... ORPHA:93260
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Protruding ear, Microcephaly, Anophthalmia, Microphthalmia ORPHA:2526
Kenny-Caffey Syndrome, Type 2
Basal ganglia calcification, Macrocephaly, Abnormality of the medullary cavity of the long bones,... OMIM:127000
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the h... OMIM:151050
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Slender long bone, Tibial bowing, Sensorineural hearing impairmen... OMIM:601812
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Hearing impairment, Cerebral calcification, Arrh... ORPHA:2710
Skin Creases, Congenital Symmetric Circumferential, 2
Low-set ears, Overfolded helix, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Microcepha... OMIM:616734
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Sensorineural hearing impairment, Telangiectasia, Microcephaly, Micro... OMIM:278730
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Lissencephaly, Low-set ears, Abnormal cortical gyration, Broad thumb, Finger syndactyly, Polymicr... ORPHA:2211
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Hearing impairment, Macrocephaly, Postaxi... OMIM:209900
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Caudal appendage, Conductive hearing impairment, Hypoplasia of the ... ORPHA:314679
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Microtia, first degree, Prominent fingertip pads, Cli... OMIM:305450
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle phalanx of t... OMIM:180860
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hearing impairment, Absent septum pellucidum, Single transverse p... OMIM:309801
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Hearing impairme... ORPHA:217346
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Hearing impairment, Microcephaly, Brachydactyly, Mi... ORPHA:364577
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Combined Oxidative Phosphorylation Deficiency 25
Low-set ears, Hypoplasia of the pons, Cerebral atrophy, Sensorineural hearing impairment, Intrave... OMIM:616430
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydact... OMIM:614099
Orofaciodigital Syndrome V
Low-set ears, Postaxial foot polydactyly, Sandal gap, Hearing impairment, Agenesis of corpus call... OMIM:174300
3C Syndrome
Aortic valve stenosis, Low-set ears, Finger syndactyly, Abnormal hip bone morphology, Hand polyda... ORPHA:7
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... ORPHA:1517
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Jacobsen Syndrome
Low-set ears, Macrocephaly, Microcephaly, Macular hypoplasia, Brachydactyly, Hydrocephalus, Micro... OMIM:147791
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Hip contra... OMIM:210710
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Toe syndactyly, Hypoplasi... ORPHA:464306
Frontonasal Dysplasia 2
Low-set ears, Cerebellar vermis hypoplasia, Encephalocele, Hypoplasia of the corpus callosum, Mic... OMIM:613451
Pseudoaminopterin Syndrome
Slender finger, Hypoplasia of the antihelix, Synostosis of carpal bones, Short thumb, Low-set, po... ORPHA:221120
Hydrolethalus Syndrome 1
Low-set ears, Abnormal cortical gyration, Preaxial hand polydactyly, Upper limb undergrowth, Abse... OMIM:236680
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Proboscis Lateralis
Abnormal corpus callosum morphology, Macrocephaly, Anophthalmia, Microphthalmia, Holoprosencephal... ORPHA:141099
Exudative Vitreoretinopathy 2, X-Linked
Retinal neovascularization, Microphthalmia OMIM:305390
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Finger syndactyly ORPHA:1997
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Saethre-Chotzen Syndrome
Low-set ears, Broad thumb, Conductive hearing impairment, Finger syndactyly, Hearing impairment, ... ORPHA:794
Rodrigues Blindness
Protruding ear, Microphthalmia OMIM:268320
Acromelic Frontonasal Dysostosis
Low-set ears, Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly... OMIM:603671
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Tarp Syndrome
Abnormal corpus callosum morphology, Prominent antihelix, Finger syndactyly, Clinodactyly, Hypopl... ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Small hand, Abnormal cortical gyration, Hearing impairment, Hypoplasia of the corpu... OMIM:300968
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Hearing impairment, Microcephaly, Absent radius, Microphthalmia, Compl... OMIM:227645
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hearing impairment, Microphthalmia OMIM:301108
Otodental Syndrome
Progressive sensorineural hearing impairment, High-frequency sensorineural hearing impairment, Ot... ORPHA:2791
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Aplasia/Hypoplasia of the cere... ORPHA:2612
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Postaxial polydacty... ORPHA:457284
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Clinodactyly, Tricuspid regurgitation, Sensorineural hearing impair... OMIM:618460
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... ORPHA:2911
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... OMIM:610828
Apert Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Micromelia, Conductive hearing impairment, Absent... ORPHA:87
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Microcephaly, Hypoplasia of the ciliary body, Progressive... OMIM:609049
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Low-set ears, Talipes equinovarus, Pulmonary arterial hypertension,... OMIM:620029
Xeroderma Pigmentosum, Complementation Group B
Sensorineural hearing impairment, Basal ganglia calcification, Microcephaly, Microphthalmia OMIM:610651
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Low-set, pos... ORPHA:1052
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Cerebellar vermis hypoplasia, Hypoplastic anterior commissure, Hypoplasia of the po... OMIM:616975
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly OMIM:614800
Blepharonasofacial Malformation Syndrome
Abnormal pinna morphology, Finger syndactyly, Hearing impairment ORPHA:1252
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Fanconi Anemia, Complementation Group L
Low-set ears, Absent thumb, Absent radius, Anotia, Cerebellar hypoplasia, Hydrocephalus, Micropht... OMIM:614083
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narro... OMIM:617925
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Short sternum, Underfolded helix, Large hands, Macrocep... ORPHA:2563
Hamamy Syndrome
Low-set ears, Prolonged QRS complex, Mitral regurgitation, Down-sloping shoulders, Sensorineural ... OMIM:611174
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Townes-Brocks Syndrome 1
Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Sensorineural hearing impairment, Hol... OMIM:107480
Monosomy 9P
Low-set ears, Atresia of the external auditory canal, Anotia, Abnormality of the tarsal bones, Bi... ORPHA:261112
Craniofacial Microsomia 1
Duplicated tragus, Conductive hearing impairment, Atresia of the external auditory canal, Occipit... OMIM:164210
Grange Syndrome
Renovascular hypertension, Brachydactyly, Finger clinodactyly, Syndactyly OMIM:602531
Microphthalmia/Coloboma 9
Low-set ears, Macrotia, Microphthalmia OMIM:615145
Hallermann-Streiff Syndrome
Small hand, Congestive heart failure, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Clinod... ORPHA:2108
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Absent thumb, Short thumb, Cupped ear, Oligodactyly, Hypoplas... OMIM:263650
X Small Rings
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, 2-3 toe syndacty... ORPHA:96201
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Short metacarpal OMIM:201180
Kinsship Syndrome
Low-set ears, Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Microcephaly, Cox... OMIM:619297
Kbg Syndrome
Radial deviation of finger, Macrotia, Ulnar deviation of the 2nd finger, Single transverse palmar... OMIM:148050
Cockayne Syndrome B
Abnormal auditory evoked potentials, Square pelvis bone, Cerebral atrophy, Hypoplasia of the iris... OMIM:133540
Choroidal Atrophy-Alopecia Syndrome
Glue ear, Finger syndactyly ORPHA:1433
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Aplasia of the distal phalanx of the 5th toe, Short finger, Sensorineural hearing i... OMIM:608670
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Dubowitz Syndrome
Low-set ears, Hypoplasia of the iris, Otitis media, Single transverse palmar crease, Protruding e... OMIM:223370
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Cerebellar vermis hypoplasia, Cavum septum pellucidum, Secondary microcephaly, Unde... OMIM:620654
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Hearing impairment, ... OMIM:200990
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Hearing impairment, Overlapping toe, Glue ear, Hypoplas... OMIM:613406
Fryns Syndrome
Short distal phalanx of finger, Cerebral cortical atrophy, Low-set, posteriorly rotated ears, Age... ORPHA:2059
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Polymicrogyria, Umbilical hernia, Syndactyly OMIM:614520
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Trichothiodystrophy 3, Photosensitive
Low-set ears, Hearing impairment, Microphthalmia OMIM:616395
Trichothiodystrophy 1, Photosensitive
Telangiectasia, Microcephaly, Protruding ear, Microphthalmia, Macrotia OMIM:601675
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Low-set ears, Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial ... OMIM:618164
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Prominent antihelix, Short thumb, Telangiectasia, Talipes... OMIM:268400
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Hearing impairment, Hypoplasia of the corpus callosum, Polydactyly,... OMIM:619869
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Atresia of the external auditory canal, Auricular tag... ORPHA:672
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Low-set ears, Small hand, Portal hypertension, Microcephaly, Pulmonary arterial hypertension, Hip... OMIM:620005
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Sensorineural hearing impairment OMIM:615824
Legius Syndrome
Hearing impairment, Polydactyly, Paroxysmal atrial tachycardia, Macrocephaly, Clinodactyly of the... ORPHA:137605
Pili Torti-Onychodysplasia Syndrome
Cutaneous syndactyly, Palmoplantar keratoderma, Abnormal pinna morphology ORPHA:2890
Constricting Bands, Congenital
Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly OMIM:217100
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Tricuspid regurgitation, Brachydacty... OMIM:616894
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De... OMIM:277900
Aicardi Syndrome
Small hand, Polymicrogyria, Microphthalmia, Protruding ear, Microcephaly, Aplasia/Hypoplasia of t... ORPHA:50
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Low-set, posteriorly rotated ears, R... ORPHA:958
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos ORPHA:91495
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Hydrocephalus OMIM:219730
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Conductive hearing impairment, Finger syndactyly, Camptodactyly of fin... ORPHA:2215
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Conductive hearing impairment, Finger syndactyly, Short tibia, Complete... ORPHA:2751
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia OMIM:221900
Hartsfield Syndrome
Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Agenesis of co... OMIM:615465
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Postaxial Acrofacial Dysostosis
Low-set ears, Congenital hip dislocation, Cupped ear, Short thumb, Conductive hearing impairment,... OMIM:263750
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Hearing impairment, Microphthalmia ORPHA:1806
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Low-set ears, Congenital hip dislocation, Umbilical hernia, Cubitus valgus, Hydrocephalus, Syndac... OMIM:104350
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Absent hand, Aplasia/Hyp... ORPHA:570
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Fryns Syndrome
Low-set ears, Short distal phalanx of finger, Joint contracture of the hand, Abnormal helix morph... OMIM:229850
Orofaciodigital Syndrome Type 1
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... ORPHA:2750
Cat Eye Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Absent radius, Microphthalmia, Pulmonic stenosis OMIM:115470
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... ORPHA:989
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcephaly, Cupped ear, Microphthalmia OMIM:110100
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Conductive hearing impairment, Finger syndactyly, Hearing impairment, Camptodactyly... ORPHA:2990
Oculoauricular Syndrome
Low-set ears, Absent earlobe, Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphth... OMIM:612109
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Sensori... ORPHA:818
Degcags Syndrome
Low-set ears, Toe syndactyly, Short thumb, Hearing impairment, Preaxial hand polydactyly, Macroti... OMIM:619488
Fraser Syndrome 2
Low-set ears, Cutaneous syndactyly, Atresia of the external auditory canal, Microphthalmia OMIM:617666
Okamoto Syndrome
Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Abnormally large globe, Hypoplasi... ORPHA:2729
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El... ORPHA:1507
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Leukoencephalopathy, Cerebral atrophy, Hypertrophic cardiomyopathy, Short humerus, Polydactyly, S... ORPHA:17
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly OMIM:619471
Au-Kline Syndrome
Overlapping toe, Sensorineural hearing impairment, Postaxial polydactyly, Syringomyelia, Deep pal... OMIM:616580
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Pulmonary arterial hype... OMIM:620025
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Short distal phalanx of finger, Low-set ears, Broad thumb, Prominent finger... OMIM:612474
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Choanal Atresia
Polydactyly ORPHA:137914
8Q24.3 Microdeletion Syndrome
Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus callosum, Short hallux, Short 5t... ORPHA:508488
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, Hearing impairment, 2-3 finger synda... OMIM:269500
Roberts-Sc Phocomelia Syndrome
Low-set ears, Clinodactyly, Abnormal metacarpal morphology, Microphthalmia, Absent radius, Absent... OMIM:268300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
3Mc Syndrome 3
Clinodactyly, Hearing impairment, Preaxial polydactyly, Auricular pit, Radioulnar synostosis, Abn... OMIM:248340
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Ulnar deviation of finger, Conductive hearing impairment, Umbilical hernia, Patella... OMIM:265000
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Carpenter Syndrome 2
Low-set ears, Broad thumb, Preaxial polydactyly, Tricuspid regurgitation, Umbilical hernia, Cutan... OMIM:614976
Yunis-Varon Syndrome
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse pal... OMIM:216340
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Polydactyly ORPHA:314655
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Stolerman Neurodevelopmental Syndrome
Clinodactyly of the 5th finger, Broad palm, Macrotia, Syndactyly OMIM:618505
Traboulsi Syndrome
Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia OMIM:601552
Neuroocular Syndrome 1
Low-set ears, Cupped ear, Prominent fingertip pads, Tibial torsion, Umbilical hernia, Anterior cr... OMIM:619539
Norrie Disease
Sensorineural hearing impairment, Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Phace Association
Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malformation, Optic nerve hypoplasia OMIM:606519
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Protruding ear, Microcephaly, Hand polyd... OMIM:210900
Orofaciodigital Syndrome Xiv
Low-set ears, Cerebellar vermis hypoplasia, Occipital encephalocele, Broad hallux, Preaxial polyd... OMIM:615948
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Osteoporosis-Pseudoglioma Syndrome
Tibial bowing, Phthisis bulbi, Microcephaly, Metaphyseal widening, Microphthalmia OMIM:259770
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Small hand, Cupped ear, Prominent fingertip pads, Sandal gap, Short 4th toe, Broad ... OMIM:615873
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Postnatal macrocephaly, Basal ganglia calcification, Stenosis of the me... ORPHA:93325
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Cranioectodermal Dysplasia 2
Low-set ears, Rhizomelia, Clinodactyly, Macrocephaly, Polydactyly, Simple ear, Brachydactyly, Pos... OMIM:613610
Townes-Brocks Syndrome
Toe clinodactyly, Ulnar deviation of finger, Broad thumb, Toe syndactyly, Hearing impairment, Pre... ORPHA:857
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Absent septum pellucidum, Agenesis of corpus callosum, Abnormal digit morphology, Po... ORPHA:95494
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Short 5th toe, 2-4 toe cu... ORPHA:268261
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Broad hallux, Clinodactyly, Atresia of the... OMIM:620186
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Finger syndactyly, Macrotia, Absent septum pellucidum, Agenesis of corpus call... ORPHA:2658
Scalp-Ear-Nipple Syndrome
Low-set ears, Small earlobe, Broad thumb, Cupped ear, Finger syndactyly, Congestive heart failure... OMIM:181270
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndac... ORPHA:373
Trichothiodystrophy
Cerebral cortical atrophy, Cardiomyopathy, Bilateral microphthalmos, Umbilical hernia, Periventri... ORPHA:33364
Cockayne Syndrome Type 3
Conductive hearing impairment, Subdural hemorrhage, Cardiomyopathy, Basal ganglia calcification, ... ORPHA:90324
Fontaine Progeroid Syndrome
Low-set ears, Short distal phalanx of finger, Cerebellar vermis hypoplasia, Conductive hearing im... OMIM:612289
Holoprosencephaly 1
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Ethmo... OMIM:236100
Renpenning Syndrome 1
Joint contracture of the hand, Cupped ear, Synostosis of the proximal phalanx of the thumb with t... OMIM:309500
Faciocardiomelic Syndrome
Microcephaly, Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Low-set ears, Broad thumb, Secondary microcephaly, Sensorineural hearing i... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Low-set ears, Broad thumb, Secondary microcephaly, Sensorineural hearing i... ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of t... OMIM:253280
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Faciodigitogenital Syndrome, Autosomal Recessive
Hearing impairment, Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clino... OMIM:227330
Incontinentia Pigmenti
Retinal hemorrhage, Microcephaly, Hypoplasia of the fovea, Microphthalmia OMIM:308300
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos... ORPHA:2473
Mullegama-Klein-Martinez Syndrome
Low-set ears, Atresia of the external auditory canal, Absent stapes, Polydactyly, Sensorineural h... OMIM:301022
Phace Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Microphthalmia, Lens coloboma, ... ORPHA:42775
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Preaxial polydactyly ORPHA:163681
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Protruding ear, Pa... ORPHA:3253
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Low-set ears, Absent crus of helix, M... ORPHA:2753
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Relative macrocephaly, N... ORPHA:96182
Prader-Willi Syndrome
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac... OMIM:176270
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Branchial anomaly, Hypoplasia of the corpus callosum, Agenesis of ... ORPHA:352665
Monosomy 22
Finger syndactyly, Low-set, posteriorly rotated ears, Single transverse palmar crease, Microcepha... ORPHA:96123
Papillorenal Syndrome
Sensorineural hearing impairment, Hypertension, Microphthalmia OMIM:120330
Lacrimoauriculodentodigital Syndrome
Low-set ears, Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Cupped ... ORPHA:2363
Genitourinary And/Or Brain Malformation Syndrome
Low-set ears, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpu... OMIM:618820
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Mosaic Trisomy 16
Short forearm, Short thumb, Clinodactyly, Hearing impairment, Large placenta, Single transverse p... ORPHA:1708
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Hearing impairment, Agenesis of corpus callosum, Talipes equinovarus, Arrhythmia, 2-... OMIM:312870
Robinow Syndrome
Mesomelia, Short distal phalanx of finger, Radioulnar dislocation, Low-set ears, Umbilical hernia... ORPHA:97360
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Leukoencephalopathy, Focal cortical dysplasia, Hypoplasia of the iris, Ischemic stroke, Microphth... OMIM:175780
Alstrom Syndrome
Dilated cardiomyopathy, Progressive sensorineural hearing impairment, Congestive heart failure, O... OMIM:203800
Fraser Syndrome 3
Low-set ears, Short toe, Simple ear, Cutaneous syndactyly, Hydrocephalus OMIM:617667
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set ears, Small hand, Hearing impairment, Overlapping toe, Hypoplasia of the corpus callosum,... ORPHA:480880
Cockayne Syndrome
Abnormal epiphysis morphology, Progressive sensorineural hearing impairment, Cerebral atrophy, Hi... ORPHA:191
Peters-Plus Syndrome
Low-set ears, Square pelvis bone, Hearing impairment, Limited elbow movement, Agenesis of corpus ... OMIM:261540
Autosomal Dominant Robinow Syndrome
Low-set ears, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Macrocep... ORPHA:3107
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Coffin-Siris Syndrome 12
Low-set ears, Slender finger, Broad thumb, Prominent antihelix, Short thumb, Hippocampal atrophy,... OMIM:619325
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Lymphedema-Distichiasis Syndrome
Arrhythmia, Microphthalmia OMIM:153400
Exstrophy-Epispadias Complex
Microcephaly, Hydrocephalus, Spina bifida ORPHA:322
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Hearing impairment, Recurrent otitis medi... OMIM:129400
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Split hand, Finger syndactyly ORPHA:1300
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Rabson-Mendenhall Syndrome
Macrotia, Cardiomyopathy, Polydactyly ORPHA:769
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Secondary microcephaly, Long hallux, Recurrent otitis media, Genu valgum, ... ORPHA:261537
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia OMIM:620376
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly OMIM:236700
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Cupped ear, Short thumb, Broad hallux, Preaxial polydactyly, Radi... OMIM:149730
Treacher-Collins Syndrome
Conductive hearing impairment, Branchial fistula, Narrow internal auditory canal, Encephalocele, ... ORPHA:861
Limb-Mammary Syndrome
Toe syndactyly, Oligodactyly, Protruding ear, Clinodactyly of the 5th finger, 3-4 finger cutaneou... ORPHA:69085
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Perivent... OMIM:309000
Adult Syndrome
Toe syndactyly, Finger syndactyly, Split foot ORPHA:978
Eec Syndrome
Toe syndactyly, Finger syndactyly, Ectrodactyly, Sensorineural hearing impairment, Aplasia/Hypopl... ORPHA:1896
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Tetraamelia Syndrome 1
Low-set ears, Hypoplastic pelvis, Hydrocephalus, Microphthalmia OMIM:273395
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Overfolded helix, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5... ORPHA:1974
Isolated Arrhinia
Microtia, Microphthalmia ORPHA:1134
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hypoplastic anterior commissure, Hyphema, Secondary microcephaly, Long hal... ORPHA:261552
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Dural ectasia, Umbilical hernia, Absent distal phalanges, Arachnod... OMIM:610168
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, 2-4 toe syndactyly, Hearing impairment, Macrotia, Recurrent otitis media, Cone-shap... OMIM:150230
Oculocerebrorenal Syndrome Of Lowe
Abnormal epiphysis morphology, Umbilical hernia, Low-set, posteriorly rotated ears, Genu valgum, ... ORPHA:534
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Hearing impairment, Camptodactyly of finger, Abnormal hip bone morphology, Abn... ORPHA:2907
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hy... OMIM:157170
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Finger syndactyly, Telangiectasia of the skin, Short lower limbs, Abnormality of ... ORPHA:1556
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Low-set ears, Atresia of the external auditory ... ORPHA:79500
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Specc1L-Related Hypertelorism Syndrome
Low-set ears, Abnormal helix morphology, Short toe, Finger syndactyly, Umbilical hernia, Arrhythm... ORPHA:1519
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short... OMIM:617088
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Conductive hearing impairment, Atresia of the external auditory canal, Microphthal... OMIM:603457
Mowat-Wilson Syndrome
Aortic valve stenosis, Recurrent otitis media, Genu valgum, Hypoplasia of the corpus callosum, Ag... ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Cerebellar vermis hypoplasia, Sandal gap, Umbilical hernia, Protruding ear, Mic... OMIM:620330
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Norrie Disease
Cerebral cortical atrophy, Abnormal helix morphology, Hypoplasia of the iris, Sensorineural heari... ORPHA:649
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Hearing impairment, ... ORPHA:110
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Mowat-Wilson Syndrome
Abnormal corpus callosum morphology, Aplasia/Hypoplasia of the cerebral white matter, Cupped ear,... OMIM:235730
Loeys-Dietz Syndrome 1
Low-set ears, Dural ectasia, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Protrudi... OMIM:609192
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly ORPHA:1521
Proteus Syndrome
Macrodactyly, Low-set ears, Pulmonary embolism, Finger syndactyly, Macrotia, Narrow internal audi... ORPHA:744
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Palmoplantar keratoderma, Finger syndactyly, Conductive hearing impairment, Protruding ear, Clino... ORPHA:1071
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, Finger syndactyly, Camptodactyly of finger, Pachygyr... ORPHA:2136
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th 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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