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Gene: Erf MGI:109637

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Gene Summary

Name:
Ets2 repressor factor
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Erftm1.1(KOMP)Mbp HOM   Early adult 0.00
abnormal snout morphology Erftm1.1(KOMP)Mbp HET Early adult 2.75×10-12
abnormal uterus morphology Erftm1.1(KOMP)Mbp HET Early adult 0.00
abnormal heart morphology Erftm1.1(KOMP)Mbp HET Early adult 0.00
hydrometra Erftm1.1(KOMP)Mbp HET Early adult 0.00
urinary bladder obstruction Erftm1.1(KOMP)Mbp HET Early adult 0.00
abnormal tooth morphology Erftm1.1(KOMP)Mbp HET Early adult 4.79×10-05
enlarged heart Erftm1.1(KOMP)Mbp HET Early adult 0.00
abnormal embryo size Erftm1.1(KOMP)Mbp HET E9.5 0.00
embryonic growth retardation Erftm1.1(KOMP)Mbp HET E9.5 0.00
embryonic lethality prior to tooth bud stage Erftm1.1(KOMP)Mbp HOM   E12.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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OPT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Erf mutations

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

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

The table below shows human diseases associated to Erf by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Non-Syndromic Sagittal Craniosynostosis
Prominent occiput, Frontal bossing, Dolichocephaly ORPHA:35093
Craniosynostosis 4
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... OMIM:600775
Crouzon Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion ORPHA:207
Chitayat Syndrome
Polyhydramnios OMIM:617180

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Craniosynostosis 7
Craniosynostosis OMIM:617439
Craniosynostosis 5, Susceptibility To
Craniosynostosis OMIM:615529
Summitt Syndrome
Oxycephaly, Craniosynostosis OMIM:272350
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Craniosynostosis 1
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... OMIM:123100
Aurocephalosyndactyly
Craniosynostosis OMIM:109050
Kleeblattschaedel
Cloverleaf skull, Elbow ankylosis, Craniosynostosis OMIM:148800
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis OMIM:123155
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:178377
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, Sagittal craniosynostosis OMIM:185900
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Sagittal craniosyn... OMIM:615314
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Symphalangism, Distal
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis OMIM:185700
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Ethanolaminosis
Cardiomegaly OMIM:227150
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Orbital craniosynostosis, Dolichocephaly ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Brachycephaly, Craniosynostosis OMIM:614416
Non-Syndromic Sagittal Craniosynostosis
Prominent occiput, Frontal bossing, Dolichocephaly ORPHA:35093
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha... OMIM:604757
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Craniosynostosis 6
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... OMIM:616602
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:601370
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Premature posterior fontanelle closure, Small anterior fontanelle, Lam... OMIM:314320
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis OMIM:218650
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Congenital Disorder Of Glycosylation, Type Iin
Osteopenia, Craniosynostosis, Joint hypermobility OMIM:616721
Hypophosphatasia, Childhood
Frontal bossing, Craniosynostosis, Dolichocephaly OMIM:241510
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Multiple suture cran... ORPHA:3369
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Craniosynostosis 4
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... OMIM:600775
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Craniosynostosis OMIM:201550
Summitt Syndrome
Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly ORPHA:3210
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Trigonocephaly, Craniosynostosis, Scaphocephaly, Abnormal calvaria morphology, M... OMIM:175700
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Cole-Carpenter Syndrome 1
Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co... OMIM:112240
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... OMIM:618736
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Craniosynostosis, Joint hypermobility OMIM:618906
Jackson-Weiss Syndrome
Coronal craniosynostosis, Calcaneonavicular fusion, Midface retrusion, Craniosynostosis OMIM:123150
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Craniosynostosis, Scaphocephaly, Hip dislocation, Joint contracture of the hand OMIM:618523
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Joint hypermobility OMIM:147060
Craniotelencephalic Dysplasia
Frontal bossing, Craniosynostosis ORPHA:1528
16P13.11 Microduplication Syndrome
Joint hyperflexibility, Craniosynostosis, Dolichocephaly ORPHA:261243
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... OMIM:266810
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Trigonocephaly 1
Metopic synostosis, Trigonocephaly, Craniosynostosis OMIM:190440
Cranioectodermal Dysplasia
Frontal bossing, Craniosynostosis, Osteoporosis, Prominent occiput, Joint hyperflexibility, Dolic... ORPHA:1515
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Dolichocephaly ORPHA:1516
Cole-Carpenter Syndrome 2
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ... OMIM:616294
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Brachycephaly, Craniosynostosis ORPHA:314575
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Mulibrey Nanism
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... OMIM:253250
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, Arthrogryposis... OMIM:618265
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect, Endometriosis, Unilateral renal agenesis, Long nose, Micrognathia, Vel... OMIM:613680
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly OMIM:613576
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Midface retru... OMIM:618577
Chondrodysplasia With Joint Dislocations, Gpapp Type
Capitate-hamate fusion, Radial head subluxation, Genu valgum, Knee dislocation, Patellar dislocat... OMIM:614078
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Large fontanelles, Brachycephaly, ... OMIM:603116
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Craniosynostosis ORPHA:380
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Craniosynostosis, Hip dislocation, Copper beaten skull, Genu varum OMIM:619451
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b... OMIM:601853
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Turricephaly, Craniosynostosis, Large fontanelles, Brachycephaly, Radioulnar synostosis ORPHA:171839
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Hypophosphatasia
Large fontanelles, Recurrent fractures, Craniosynostosis ORPHA:436
Craniofrontonasal Dysplasia
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Brachycephaly, Plagiocephaly, Joint h... ORPHA:1520
Carpenter Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Oxycephaly, Genu valgum ORPHA:65759
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Brachycephaly, Craniosynostosis ORPHA:2145
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodact... ORPHA:83
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis OMIM:614732
Robinow-Sorauf Syndrome
Plagiocephaly, Pansynostosis, Craniosynostosis OMIM:180750
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Muenke Syndrome
Capitate-hamate fusion, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Midface retrusion OMIM:602849
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Unilateral renal agenesis, Endometriosis, Long nose, Abnormality of the dentition, M... ORPHA:363444
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Micrognathia, Cleft palate, Hypoplasi... OMIM:601076
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Crouzon Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion ORPHA:207
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Limb joint contracture, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Muenke Syndrome
Tarsal synostosis, Brachycephaly, Plagiocephaly, Carpal synostosis, Coronal craniosynostosis ORPHA:53271
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Corpus Callosum Agenesis-Neuronopathy Syndrome
Turricephaly, Craniosynostosis ORPHA:1496
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Hartsfield Syndrome
Craniosynostosis ORPHA:2117
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Flexion contracture, Craniosynostosis OMIM:619076
Frontoocular Syndrome
Trigonocephaly, Coronal craniosynostosis OMIM:605321
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Crouzon Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... OMIM:123500
Macrocephaly-Developmental Delay Syndrome
Frontal bossing, Scaphocephaly, Craniosynostosis ORPHA:397612
Osteopetrosis, Autosomal Recessive 1
Frontal bossing, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, ... OMIM:259700
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Dolichocephaly, Sagittal cra... ORPHA:2872
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... ORPHA:2975
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification ORPHA:2645
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... OMIM:618652
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Elbow contracture, Multiple pterygia, Craniosynostosis, Tarsal... OMIM:178110
Enlarged Parietal Foramina
Parietal foramina, Craniosynostosis ORPHA:60015
Parenti-Mignot Neurodevelopmental Syndrome
Frontal bossing, Craniosynostosis OMIM:619873
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Frontal bossing, Wide anterior fontanel, Flexion contracture, Humeroradial synostosis, Brachyceph... OMIM:207410
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Metopic depression, Decreased calvarial ossification, Steep acetabular roof, Coronal ... ORPHA:313855
Congenital Myopathy 8
High palate, Cardiomegaly OMIM:618654
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Autosomal Recessive Omodysplasia
Elbow dislocation, Frontal bossing, Pterygium, Craniosynostosis ORPHA:93329
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Joint hypermobility OMIM:619056
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Bent Bone Dysplasia Syndrome 1
Decreased calvarial ossification, Midface retrusion, Coronal craniosynostosis OMIM:614592
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Thick vermilion b... OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, Nephrotic syndrome, High palate OMIM:269920
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Brachycephaly, Craniosynostosis OMIM:613174
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis OMIM:241310
Hypophosphatasia, Infantile
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Unossi... OMIM:241500
Marshall-Smith Syndrome
Increased susceptibility to fractures, Joint hyperflexibility, Craniosynostosis, Reduced bone min... ORPHA:561
Lowry-Maclean Syndrome
Osteopenia, Craniosynostosis, Osteoporosis, Small anterior fontanelle, Widely patent coronal sutu... ORPHA:2409
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... ORPHA:324410
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Calvarial skull defect, Frontal bossing, Coronal craniosynostosis, Brachycephaly ORPHA:228390
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Apert Syndrome
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... OMIM:101200
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis OMIM:616943
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis ORPHA:163976
1P31P32 Microdeletion Syndrome
Frontal bossing, Craniosynostosis ORPHA:401986
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Trigonocephaly, Scaphocephaly, Sagittal craniosynostosis OMIM:616901
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Thick lower lip vermilion, Wide nasal ... OMIM:239850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Wide nasal bridge, Cleft pala... OMIM:616897
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Craniosynostosis ORPHA:2163
Pycnodysostosis
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral densit... ORPHA:763
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Frontal bossing, Recurrent fractures, Joint hypermobility, Craniosynostosis, Multiple... OMIM:245600
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis ORPHA:163971
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Frontal bossing, Craniosynostosis, Skull asymmetry, Limited elbow extension, Carpal b... OMIM:616723
Meckel Syndrome 12
Ureteral hypoplasia, Micrognathia, Wide nasal bridge, Renal hypoplasia, Hypoplasia of the uterus,... OMIM:616258
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Hip subluxation, J... ORPHA:356961
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Osteoporosis, Anterior plagiocephaly, Bicoronal synostosis OMIM:619718
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Frontometaphyseal Dysplasia 1
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... OMIM:305620
Carpenter Syndrome 1
Sagittal craniosynostosis, Lateral displacement of patellae, Brachycephaly, Genu valgum, Lambdoid... OMIM:201000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Frontal bossing, Craniosynostosis ORPHA:1064
Fibular Hemimelia
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... ORPHA:93323
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Osteoporosis, Brachycephaly, Ankle clonus, Metopic synostosis, Lambdoidal craniosynos... OMIM:615398
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, A... ORPHA:2237
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o... OMIM:154230
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility ORPHA:2314
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation OMIM:207950
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Scaphocephaly, Brachycephaly, Camptodactyly, Trigonocephaly ORPHA:459061
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Cranioectodermal Dysplasia 4
Frontal bossing, Joint hypermobility, Sagittal craniosynostosis OMIM:614378
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Pfeiffer Syndrome
Cloverleaf skull, Humeroradial synostosis, Coronal craniosynostosis, Brachyturricephaly, Elbow an... OMIM:101600
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Craniosynostosis, Dolichocephaly, Wid... OMIM:182212
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Parietal foramina, Wide anterior ... ORPHA:85199
8Q22.1 Microdeletion Syndrome
Limitation of joint mobility, Camptodactyly of finger, Craniosynostosis ORPHA:178303
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Brachycephaly, Craniosynostosis, Midface retrusion ORPHA:1790
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... ORPHA:1908
X-Linked Hypophosphatemia
Frontal bossing, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Coffin-Siris Syndrome 7
Trigonocephaly, Sagittal craniosynostosis OMIM:618027
Tatton-Brown-Rahman Syndrome
Patellar subluxation, Talipes valgus, Sagittal craniosynostosis OMIM:615879
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Shallow acetabular fossae, Carpal bone hypoplasia, Craniosynostosis OMIM:252600
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... ORPHA:3097
Choanal Atresia
Tracheomalacia, Craniosynostosis ORPHA:137914
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Craniosynostosis, Midface retrusion, Metopic synostosis OMIM:301056
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teet... ORPHA:2728
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... OMIM:235200
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Fg Syndrome Type 1
Limited elbow extension and supination, Progressive flexion contractures, Craniosynostosis, Gener... ORPHA:93932
Alpha-N-Acetylgalactosaminidase Deficiency
Thick vermilion border, Oligosacchariduria, Cardiomegaly ORPHA:3137
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Brachycephaly, Craniosynostosis ORPHA:254346
3Q29 Microduplication Syndrome
Camptodactyly of toe, Large fontanelles, Biparietal narrowing, Craniosynostosis ORPHA:251038
Pfeiffer Syndrome Type 1
Brachycephaly, Bicoronal synostosis, Midface retrusion ORPHA:93258
9Q21.13 Microdeletion Syndrome
Craniosynostosis ORPHA:531151
Teebi Hypertelorism Syndrome 1
Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis OMIM:145420
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Curry-Jones Syndrome
Craniosynostosis ORPHA:1553
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Midface retrusion ORPHA:1555
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Timothy Syndrome
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall... OMIM:601005
Microphthalmia, Syndromic 9
Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atrium, Wide nasal brid... OMIM:601186
Wildervanck Syndrome
Meningocele ORPHA:3456
Chromosome 10Q26 Deletion Syndrome
Frontal bossing, Congenital hip dislocation, Craniosynostosis, Dolichocephaly, Limited elbow exte... OMIM:609625
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide... OMIM:146255
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Pulmonic stenosis, Medullary nephrocalcinosis OMIM:613312
Acrocraniofacial Dysostosis
Turricephaly, Craniosynostosis, Genu valgum ORPHA:949
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... OMIM:256550
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Craniosynostosis And Dental Anomalies
Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Sagittal craniosynostosis, ... OMIM:614188
Larsen Syndrome
Craniosynostosis, Large joint dislocations, Accessory carpal bones, Joint hyperflexibility, Laryn... ORPHA:503
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... OMIM:212140
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Frontal bossing, Multiple joint contractures, Recurrent fractures, Large joint disloc... ORPHA:536467
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Horseshoe kidney, Cleft palate, Abnormal cardiac septum morphology, Aplasia of the ... ORPHA:3320
Humero-Radial Synostosis
Meningocele ORPHA:3265
Distal Deletion 10Q
Frontal bossing, Prominent metopic ridge, Craniosynostosis, Hip dislocation, Brachycephaly ORPHA:96148
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism... ORPHA:96097
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... ORPHA:83628
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v... ORPHA:289
Frontonasal Dysplasia 2
Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Calvarial skull defect OMIM:613451
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... OMIM:200990
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Meningocele, Dandy-Walker malformation, Chiari malformation ORPHA:2481
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Hydrom... ORPHA:268810
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Craniosynostosis ORPHA:457193
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Proximal 16P11.2 Microdeletion Syndrome
Platybasia, Midface retrusion, Craniosynostosis ORPHA:261197
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Shprintzen-Goldberg Syndrome
Osteopenia, Frontal bossing, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow di... ORPHA:2462
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Long nose, Hypoplasia of the uterus, High palate, Short philtrum, Thic... OMIM:615866
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Pediatric-Onset Graves Disease
Small anterior fontanelle, Craniosynostosis ORPHA:525731
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Frontal bossing, Craniosynostosis ORPHA:166035
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Frontal bossing, Abnormality of the knee, Craniosynostosis, Hyperextensible hand join... ORPHA:457395
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Edema, Cerebellar hypoplasia, Intrauterine growth retardation OMIM:616038
Alg3-Cdg
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation ORPHA:79321
Scarf Syndrome
Joint hyperflexibility, Craniosynostosis ORPHA:3134
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Brachycephaly ORPHA:2095
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Brachycephaly, Plagiocephaly, Delayed cranial ... ORPHA:794
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Meckel Syndrome 14
Microretrognathia, Micrognathia, Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous ge... OMIM:619879
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Joint laxity, Genu recurvatum, Recurrent fractures, Phalangeal dis... OMIM:130070
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Br... ORPHA:309282
Hamamy Syndrome
Osteopenia, Recurrent fractures, Craniosynostosis, Neck pterygia, Brachycephaly OMIM:611174
Triploidy
Polyhydramnios, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Multicystic kidney dysplasia, Unilateral renal agenesis, Micrognathia, Cry... OMIM:614527
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Craniosynostosis ORPHA:251004
Aymé-Gripp Syndrome
Prominent metopic ridge, Craniosynostosis, Limitation of joint mobility, Large fontanelles, Brach... ORPHA:1272
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Brachycephaly, Abnormality of the wrist, Elbow ankylosis, Wide anterior font... ORPHA:95699
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... ORPHA:85451
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Mucolipidosis Ii Alpha/Beta
Osteopenia, Craniosynostosis, Premature anterior fontanel closure, Hip dislocation, Limitation of... OMIM:252500
3Mc Syndrome 2
Craniosynostosis, Limited elbow movement, Hip dislocation, Radioulnar synostosis, Skull asymmetry... OMIM:265050
Cranioectodermal Dysplasia 3
Joint laxity, Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly OMIM:614099
Distal Triplication 15Q
Flexion contracture, Craniosynostosis, Camptodactyly ORPHA:314588
Musculocontractural Ehlers-Danlos Syndrome
Recurrent joint dislocation, Craniosynostosis, Generalized joint laxity, Large fontanelles, Arthr... ORPHA:2953
Enamel-Renal Syndrome
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... ORPHA:1031
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth OMIM:618798
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morphology, Abnormality o... ORPHA:247768
Beare-Stevenson Cutis Gyrata Syndrome
Cloverleaf skull, Flat occiput, Craniosynostosis, Limited elbow extension, Midface retrusion OMIM:123790
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Tracheobronchomalacia, Joint hypermobility, Joint stiffness OMIM:619184
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... ORPHA:1826
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Deep philtrum, Cardiomegaly OMIM:613320
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scaphocephaly, Craniosynostosis OMIM:616914
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatospleno... OMIM:608013
15Q Overgrowth Syndrome
Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostos... ORPHA:314585
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Plagiocephaly, Anterior plagiocephaly OMIM:614749
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... OMIM:204690
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Camptodactyly of finger, Joint hypermobility OMIM:619951
Baller-Gerold Syndrome
Bicoronal synostosis, Turricephaly, Limited elbow movement, Sagittal craniosynostosis, Craniosyno... OMIM:218600
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Mosaic Variegated Aneuploidy Syndrome 2
Frontal bossing, Craniosynostosis, Dolichocephaly OMIM:614114
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive... ORPHA:432
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Okamoto Syndrome
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Tented upper lip vermilion,... ORPHA:2729
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Wide nasal bridge, Wide mouth, Thick vermilion bor... ORPHA:1517
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Frontal bossing, Multiple joint contractures, Subluxation of the s... ORPHA:536471
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Limitation of... ORPHA:576
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Meier-Gorlin Syndrome 7
Joint laxity, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Wid... OMIM:617063
Perrault Syndrome 4
Hypoplasia of the uterus, Cleft palate, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Scarf Syndrome
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:312830
3Mc Syndrome
Radioulnar synostosis, Hip dislocation, Craniosynostosis, Limited pronation/supination of forearm ORPHA:293843
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narrow palate, Macroglos... OMIM:617022
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Prominent metopic ridge, Plagiocephaly, Craniosynostosis ORPHA:453499
Microcephaly-Micromelia Syndrome
Humeroradial synostosis, Craniosynostosis OMIM:251230
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Retrognathia, Hepatosplenomegaly, Hydroc... ORPHA:79330
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly ORPHA:42
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Frontal bossing, Craniosynostosis OMIM:250410
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly OMIM:255120
Slc39A8-Cdg
Osteopenia, Elbow flexion contracture, Craniosynostosis, Knee flexion contracture ORPHA:468699
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Craniosynostosis, Midface re... OMIM:618050
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly OMIM:266500
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Spina bifida ORPHA:1120
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Patent ductus arteriosus, Chiari type I malformation, Umbilical hernia OMIM:130720
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... OMIM:616546
Curry-Jones Syndrome
Wormian bones, Bicoronal synostosis, Unicoronal synostosis OMIM:601707
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Frontal bossing, Cloverleaf skull, Limited elbow movement, Craniosynostosis, Elbow flexion contra... ORPHA:508533
Pontocerebellar Hypoplasia Type 7
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Wide nasal bridge, Gonadal dysgenesis, H... ORPHA:284339
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, M... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, M... ORPHA:352665
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... ORPHA:33364
Marshall-Smith Syndrome
Frontal bossing, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures... OMIM:602535
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Joint laxity, Craniosynostosis, Tracheomalacia ORPHA:412069
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Seckel Syndrome
Joint hyperflexibility, Craniosynostosis ORPHA:808
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... ORPHA:90793
Au-Kline Syndrome
Prominent metopic ridge, Craniosynostosis, Sagittal craniosynostosis, Plagiocephaly, Dolichocephaly OMIM:616580
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida ORPHA:99742
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Chiari malformation ORPHA:2789
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Long nose, Cryptorchidism, Deep philtrum, Gingival overgrowth, Macrog... OMIM:618143
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Brachycephaly, Joint hypermobility ORPHA:369837
Osteoglophonic Dysplasia
Osteopenia, Frontal bossing, Cloverleaf skull, Camptodactyly of finger, Craniosynostosis, Increas... OMIM:166250
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Asplenia, Patent ductus arteriosus, Hydrops fetalis, Intrauterine g... ORPHA:99776
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... OMIM:201475
Lathosterolosis
Meningocele, Anisopoikilocytosis, Abnormal platelet morphology, Chiari malformation, Intrauterine... ORPHA:46059
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
3Mc Syndrome 1
Wide anterior fontanel, Radioulnar synostosis, Skull asymmetry, Lambdoidal craniosynostosis, Coro... OMIM:257920
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Van Den Ende-Gupta Syndrome
Craniosynostosis, Scaphocephaly, Elbow flexion contracture, Knee flexion contracture, Camptodacty... OMIM:600920
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Noonan Syndrome 3
Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Left unilambdoid synos... OMIM:609942
Acrocephalopolydactylous Dysplasia
Oxycephaly, Craniosynostosis OMIM:200995
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Pier... OMIM:614921
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly ORPHA:391428
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Fucosidosis
Hepatomegaly, Abnormality of the dentition, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Prominent metopic ridge, Multiple joint contractures, Camptodactyly of finger, Ankle flexion cont... ORPHA:468631
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... ORPHA:168558
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... OMIM:602782
Craniofrontonasal Syndrome
Joint laxity, Frontal bossing, Brachycephaly, Coronal craniosynostosis, Axillary pterygium OMIM:304110
7Q11.23 Microduplication Syndrome
Craniosynostosis, Brachycephaly, Dolichocephaly, Tracheomalacia, Cubitus valgus, Joint hypermobility ORPHA:96121
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... OMIM:300967
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-... ORPHA:228308
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Natal tooth, Cleft palate, Cardiomegaly ORPHA:158687
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel... ORPHA:397715
Cerebrooculonasal Syndrome
Frontal bossing, Craniosynostosis, Brachycephaly, Proboscis OMIM:605627
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly ORPHA:99931
Iniencephaly
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... ORPHA:63259
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... ORPHA:289548
Nablus Mask-Like Facial Syndrome
Frontal bossing, Joint contracture of the hand, Craniosynostosis, Camptodactyly OMIM:608156
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto... OMIM:258040
Dubowitz Syndrome
Wide anterior fontanel, Delayed cranial suture closure, Craniosynostosis, Joint hyperflexibility ORPHA:235
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Wide anterior fontanel, Sagittal craniosynostosis OMIM:610199
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Retrocerebellar cyst ORPHA:1827
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Joint contracture of the hand, Camptodactyly OMIM:235510
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Frontal bossing, Prominent metopic ridge, Craniosynostosis, Wide anterior fontanel, S... OMIM:266920
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios OMIM:613776
Say-Barber-Miller Syndrome
Craniosynostosis, Hip dislocation, Elbow flexion contracture, Patellar hypoplasia, Knee flexion c... ORPHA:3132
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis OMIM:601374
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus OMIM:617914
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Craniosynostosis, Brachycephaly, Joint... OMIM:213980
Phocomelia, Schinzel Type
Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Cleft palate, Aplasia of ... ORPHA:2879
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip... OMIM:603457
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Cardio... OMIM:608836
Saethre-Chotzen Syndrome
Parietal foramina, Oxycephaly, Brachycephaly, Plagiocephaly, Radioulnar synostosis, Skull asymmet... OMIM:101400
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small p... OMIM:256520
Arterial Tortuosity Syndrome
Joint hyperflexibility, Hip dislocation, Craniosynostosis ORPHA:3342
Cranioectodermal Dysplasia 2
Joint laxity, Frontal bossing, Cloverleaf skull, Craniosynostosis, Plagiocephaly, Metopic synosto... OMIM:613610
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t... ORPHA:322
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Frontal bossing, Craniosynostosis, Joint hypermobility OMIM:617506
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Patellar aplasia, Brachycephaly, Knee flexion... ORPHA:3103
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul... ORPHA:465508
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Cleft palate, Hypoplasia of ... OMIM:309801
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Micrognathia, Wide nasal bridge, Renal hypoplasia, Cleft palate, Aplas... OMIM:614083
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, Diffi... ORPHA:308552
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia OMIM:268800
Opitz Gbbb Syndrome
Tracheomalacia, Prominent metopic ridge, Large fontanelles, Craniosynostosis ORPHA:2745
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Parietal foramina, Hip dislocation, Antecubital pterygium, Patellar hypoplasia,... OMIM:609945
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Pseudoaminopterin Syndrome
Frontal bossing, Sagittal craniosynostosis, Limited elbow movement, Dolichocephaly, Patchy reduct... ORPHA:221120
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Hyperlysinemia
Craniosynostosis ORPHA:2203
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Frontal bossing, Scaphocephaly, Delayed cranial suture closure, Craniosynostosis OMIM:620005
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Craniosynostosis ORPHA:1521
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ... OMIM:300855
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Neu-Laxova Syndrome
Polyhydramnios, Spina bifida, Cerebellar hypoplasia, Intrauterine growth retardation, Abnormal ce... ORPHA:2671
Phakomatosis Pigmentokeratotica
Spina bifida, Lymphedema ORPHA:2874
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Cranioectodermal Dysplasia 1
Joint laxity, Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Osteoporosis, Dolichocep... OMIM:218330
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint laxity, Craniosynostosis OMIM:300707
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Patellar aplasia, Joint hyperflexib... ORPHA:2554
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Yunis-Varon Syndrome
Cardiomegaly, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... ORPHA:3472
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Flat acetabular roof, Midface retrusion, Unicoronal synostosis OMIM:616300
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Arboleda-Tham Syndrome
Frontal bossing, Craniosynostosis, Enlarged proximal interphalangeal joints, Genu valgum, Plagioc... OMIM:616268
Trisomy 18
Spina bifida, Anencephaly, Chiari malformation, Holoprosencephaly, Intrauterine growth retardatio... ORPHA:3380
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Nephrocalcinosis, Vesicou... ORPHA:904
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Eosinophilia, Spina bifida, Edema of t... OMIM:274000
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Aplasia of the uterus, Aplasia of the ova... ORPHA:69085
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Bohring-Opitz Syndrome
Micrognathia, Cardiomegaly, Cleft lip, Wide nasal bridge, Cleft palate, Abnormal cardiac septum m... ORPHA:97297
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Craniosynostosis, Flexion contracture, Brachycephaly, Camptodactyly, Trigonocephaly OMIM:309590
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, High palate, Narrow mouth, Malar flattening, Broad philtrum ORPHA:2463
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... ORPHA:90796
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis ORPHA:79396
Fucosidosis
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Thick lower lip v... OMIM:230000
Zttk Syndrome
Frontal bossing, Craniosynostosis, Flexion contracture, Midface retrusion, Joint hypermobility OMIM:617140
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, High palate, Wide nasal bridge OMIM:110100
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Joint laxity, Craniosynostosis, Tracheomalacia, Joint hypermobility ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Joint laxity, Craniosynostosis, Tracheomalacia, Joint hypermobility ORPHA:363958
Coffin-Siris Syndrome 1
Ectopic kidney, Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Hy... OMIM:135900
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria OMIM:603903
Fontaine Progeroid Syndrome
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Coronal craniosynostosis, ... OMIM:612289
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Carpenter Syndrome 2
Frontal bossing, Craniosynostosis, Oxycephaly, Brachycephaly, Knee flexion contracture, Camptodac... OMIM:614976
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis ORPHA:2136
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate ORPHA:137675
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis... OMIM:618419
Branchioskeletogenital Syndrome
Thickened calvaria, Brachycephaly, Craniosynostosis ORPHA:1299
Focal Dermal Hypoplasia
Umbilical hernia, Patent ductus arteriosus, Spina bifida ORPHA:2092
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... ORPHA:581
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Precocious puberty, Cryptorchidism, Micr... OMIM:194190
15q26 overgrowth syndrome
Craniosynostosis, Abnormal joint morphology, Camptodactyly of finger, Joint hypermobility DECIPHER:81
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... OMIM:137920
Hydrolethalus Syndrome 1
Median cleft lip, Ventricular septal defect, Hypospadias, Bifid uterus, Micrognathia, Complete at... OMIM:236680
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Spina bifida, Patent ductus arteriosus, Hydrocephalus... ORPHA:84
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Macroglossia OMIM:232300
Gabriele-De Vries Syndrome
Craniosynostosis, Patellar subluxation, Distal arthrogryposis, Finger joint hypermobility, Dolich... ORPHA:506358
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... ORPHA:90794
Degcags Syndrome
Osteopenia, Craniosynostosis, Genu valgum, Plagiocephaly, Tracheomalacia OMIM:619488
Hartsfield Syndrome
Craniosynostosis, Hypoplasia of the frontal bone OMIM:615465
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
22Q11.2 Deletion Syndrome
Turricephaly, Multiple suture craniosynostosis, Joint hyperflexibility, Arthritis, Patellar dislo... ORPHA:567
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly ORPHA:79280
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Open mouth, Aplasia of the vagina, Unilateral renal agenesis ORPHA:457284
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchi... ORPHA:116
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Loeys-Dietz Syndrome
Joint dislocation, Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis ORPHA:60030
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia OMIM:277170
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Joint contracture of the 5th finger, Craniosynostosis, Midface retrusion ORPHA:363611
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Loeys-Dietz Syndrome 1
Joint laxity, Craniosynostosis, Camptodactyly OMIM:609192
Loeys-Dietz Syndrome 2
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contractu... OMIM:610168
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Frontal bossing, Cloverleaf skull, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, ... OMIM:201750
Nail-Patella Syndrome
Spina bifida OMIM:161200
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Thin upper lip vermilion, Hypospadias, Exagge... ORPHA:709
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Fused cervical vertebrae, Coronal craniosynostosis, Brachyturricephaly, Contracture of the distal... ORPHA:83617
Pagod Syndrome
Encephalocele, Abnormality of the spleen, Meningocele, Spina bifida ORPHA:991
Proteus Syndrome
Craniosynostosis, Joint stiffness, Hip dislocation, Hyperostosis, Dolichocephaly, Calvarial hyper... ORPHA:744
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Short lingual frenulum, Micrognathia, Hypoplasia ... OMIM:261540
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... ORPHA:3464
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... OMIM:182250
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr... ORPHA:286
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... ORPHA:573278
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthritis, Knee osteoar... OMIM:613795
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Thin vermilion border, ... OMIM:130050
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Aicardi Syndrome
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Spina bifida, Chiari malformation OMIM:304050
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Doors Syndrome
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Prominent occiput, Anterior plagiocephaly ORPHA:79500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Frontal bossing, Sagittal craniosynostosis, Hyperextensible hand joints, Metopic synostosis, Hype... ORPHA:500150
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, Diffi... ORPHA:365
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo... OMIM:107480
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Hypoplasia of the brainstem, Ho... OMIM:610828
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Knobloch Syndrome 1
Cerebellar atrophy, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spi... OMIM:267750
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent ductus arteriosus, Patent urachus, Intrauterine gro... OMIM:192350
Jacobsen Syndrome
Intrauterine growth retardation, Thrombocytopenia, Spina bifida ORPHA:2308
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Pallister-Killian Syndrome
Small scrotum, Tented upper lip vermilion, Micrognathia, Renal cyst, Atrial septal defect, Bifid ... OMIM:601803
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Spina bifida ORPHA:508498
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida OMIM:619480
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Liver Disease, Severe Congenital
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Micr... OMIM:619991
Campomelic Dysplasia
Hydrocephalus, Polyhydramnios, Spina bifida, Spinal dysraphism OMIM:114290
Microphthalmia, Syndromic 6
Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion OMIM:607932
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Thick lower lip vermilion, Macroglossia, ... OMIM:256040
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly ORPHA:51
Rubinstein-Taybi Syndrome 1
Accessory spleen, Polyhydramnios, Spina bifida, Patent ductus arteriosus, Leukemia, Spina bifida ... OMIM:180849
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries, Hypoplasia o... ORPHA:572333
Sotos Syndrome
Joint laxity, Hip contracture, Ankle flexion contracture, Craniosynostosis, Bilateral camptodacty... ORPHA:821
Roberts-Sc Phocomelia Syndrome
Craniosynostosis, Ankle flexion contracture, Elbow flexion contracture, Brachycephaly, Knee flexi... OMIM:268300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Narrow palate, Anteriorly displace... OMIM:276820
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Marfan Syndrome
Meningocele ORPHA:558
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis ORPHA:2968
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif... ORPHA:51608
Norrie Disease
Cryptorchidism, Thin vermilion border, Malar flattening, Uterine rupture ORPHA:649
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Right unicoronal synostosis, Flexion contracture, Genu valgum, Camptodactyly ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Frontal bossing, Flexion contracture, Genu valgum, Camptodactyly, Right unicoronal synostosis ORPHA:261552
Chitayat Syndrome
Polyhydramnios OMIM:617180

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 Erf

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 Erf.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Erftm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Erftm1.1(KOMP)Mbp Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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