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

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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
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

6 Images

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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
Frontal bossing, Dolichocephaly, Prominent occiput ORPHA:35093
Craniosynostosis 4
Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Pansynostosis, Metop... OMIM:600775
Crouzon Syndrome
Brachycephaly, Frontal bossing, Turricephaly, Multiple suture craniosynostosis 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
Craniosynostosis, Philadelphia Type
Craniosynostosis ORPHA:1527
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... 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
Brachycephaly, Craniosynostosis, Thickened calvaria, Increased bone mineral density ORPHA:178377
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, Distal symphalangism of hands OMIM:185900
Craniosynostosis 3
Bicoronal synostosis, Left unicoronal synostosis, Sagittal craniosynostosis, Right unicoronal syn... OMIM:615314
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism OMIM:185700
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis OMIM:601379
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Craniosynostosis ORPHA:2866
Craniosynostosis, Adelaide Type
Craniosynostosis, Carpal bone malsegmentation OMIM:600593
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Ethanolaminosis
Cardiomegaly OMIM:227150
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Craniosynostosis 2
Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Tri... OMIM:604757
Non-Syndromic Sagittal Craniosynostosis
Frontal bossing, Dolichocephaly, Prominent occiput ORPHA:35093
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis, Humeroradial synostosis OMIM:614416
Prognathism, Mandibular
Craniosynostosis OMIM:176700
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam... OMIM:616602
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Craniosynostosis With Fibular Aplasia
Craniosynostosis OMIM:218550
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis ORPHA:88643
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:601370
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Trigonocephaly, Small anterior fontanelle, Sagittal craniosynostosis... OMIM:314320
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis OMIM:218650
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Congenital Disorder Of Glycosylation, Type Iin
Joint hypermobility, Craniosynostosis, Osteopenia OMIM:616721
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis OMIM:612247
Hypophosphatasia, Childhood
Frontal bossing, Dolichocephaly, Craniosynostosis OMIM:241510
Lowry-Maclean Syndrome
Craniosynostosis OMIM:600252
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Multiple suture craniosynostosis, Trigonocephaly, Small anterior fontanelle, Metopic suture paten... ORPHA:3369
Adducted Thumbs Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita OMIM:201550
Summitt Syndrome
Plagiocephaly, Genu valgum, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis ORPHA:3210
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis, Flat occiput, Delayed closure o... OMIM:618736
Craniosynostosis 4
Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Pansynostosis, Metop... OMIM:600775
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Coronal craniosynostosis, Frontal bossing, Orbital cran... OMIM:112240
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Joint hypermobility, Craniosynostosis OMIM:618906
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Craniosynostosis, Hip dislocation, Scaphocephaly, Joint contracture of the hand OMIM:618523
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal bossing ORPHA:1528
Renal And Mullerian Duct Hypoplasia
Short nose, Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Microg... OMIM:266810
16P13.11 Microduplication Syndrome
Joint hypermobility, Craniosynostosis, Dolichocephaly ORPHA:261243
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Trigonocephaly 1
Trigonocephaly, Craniosynostosis, Metopic synostosis OMIM:190440
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Hypochondroplasia
Limited elbow extension, Craniosynostosis, Frontal bossing, Genu varum OMIM:146000
Cranioectodermal Dysplasia
Prominent occiput, Osteoporosis, Frontal bossing, Dolichocephaly, Joint hypermobility, Craniosyno... ORPHA:1515
Jackson-Weiss Syndrome
Coronal craniosynostosis, Craniosynostosis, Calcaneonavicular fusion OMIM:123150
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Frontal bossing, Dolichocephaly ORPHA:1516
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, Frontal bossing, Craniosynostosis ORPHA:314575
Craniotelencephalic Dysplasia
Craniosynostosis OMIM:218670
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Greig Cephalopolysyndactyly Syndrome
Abnormal calvaria morphology, Metopic synostosis, Delayed cranial suture closure, Trigonocephaly,... OMIM:175700
Cole-Carpenter Syndrome 2
Osteopenia, Turricephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing,... OMIM:616294
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Craniosynostosis, Arthrogryposis... OMIM:618265
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses,... OMIM:253250
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia, Thin upper lip vermilion OMIM:613576
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Beaulieu-Boycott-Innes Syndrome
Long nose, Unilateral renal agenesis, Endometriosis, Carious teeth, Velopharyngeal insufficiency,... OMIM:613680
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Genu valgum, Recurrent patellar dislocation, Coronal craniosynostosis, R... OMIM:614078
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Frontal bossing ORPHA:380
Cutis Laxa, Autosomal Recessive, Type Iie
Copper beaten skull, Joint hypermobility, Craniosynostosis, Genu varum, Hip dislocation OMIM:619451
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Unilambdoid synostosis, Ulnar deviation of the wrist OMIM:618577
Cdags Syndrome
Brachycephaly, Large fontanelles, Lambdoidal craniosynostosis, Parietal foramina, Delayed cranial... OMIM:603116
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Large fontanelles, Turricephaly, Radioulnar synostosis, Craniosynostosis ORPHA:171839
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Frontal bossing, Camptodactyly of finger, Joint hypermobility, Cran... ORPHA:1520
Carpenter Syndrome
Turricephaly, Genu valgum, Cloverleaf skull, Craniosynostosis, Oxycephaly ORPHA:65759
Hypophosphatasia
Craniosynostosis, Large fontanelles, Recurrent fractures ORPHA:436
Antley-Bixler Syndrome
Brachycephaly, Turricephaly, Delayed cranial suture closure, Joint stiffness, Frontal bossing, Ca... ORPHA:83
Robinow-Sorauf Syndrome
Plagiocephaly, Pansynostosis, Craniosynostosis OMIM:180750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Craniosynostosis OMIM:614732
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Turricephaly, Wide anterior fontanel, Wormian bones, Craniosynostosis, Skull asymm... OMIM:601853
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Craniosynostosis, Turricephaly ORPHA:2145
Acalvaria
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina bifida ORPHA:945
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G... OMIM:273250
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Atria... ORPHA:363444
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Muenke Syndrome
Brachycephaly, Plagiocephaly, Cloverleaf skull, Coronal craniosynostosis, Capitate-hamate fusion OMIM:602849
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Ankle flexion contracture, Limb joint contracture, Knee flexion contracture ORPHA:284417
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Cleft upper lip, Micro... OMIM:601076
Muenke Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Coronal craniosynostosis, Carpal synostosis ORPHA:53271
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Corpus Callosum Agenesis-Neuronopathy Syndrome
Craniosynostosis, Turricephaly ORPHA:1496
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Craniosynostosis, Flexion contracture OMIM:619076
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Downturned corners of mouth, Smooth philtrum, Car... OMIM:618652
Hartsfield Syndrome
Craniosynostosis ORPHA:2117
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Frontal ... OMIM:259700
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Frontoocular Syndrome
Trigonocephaly, Coronal craniosynostosis OMIM:605321
Macrocephaly-Developmental Delay Syndrome
Craniosynostosis, Frontal bossing, Scaphocephaly ORPHA:397612
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, Dolichocephaly, Sagittal cra... ORPHA:2872
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Crouzon Syndrome
Brachycephaly, Frontal bossing, Turricephaly, Multiple suture craniosynostosis ORPHA:207
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification ORPHA:2645
Parenti-Mignot Neurodevelopmental Syndrome
Craniosynostosis, Frontal bossing OMIM:619873
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Camptodacty... OMIM:178110
Enlarged Parietal Foramina
Parietal foramina, Craniosynostosis ORPHA:60015
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Crouzon Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Sagittal c... OMIM:123500
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Autosomal Recessive Omodysplasia
Craniosynostosis, Elbow dislocation, Frontal bossing, Pterygium ORPHA:93329
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate, Bifid uterus ORPHA:2736
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Craniosynostosis OMIM:620428
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Retrognathia, Ventricular hypertrophy, Cardiomyopathy, Everted lower lip... OMIM:300280
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis OMIM:616943
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Everted lower lip vermilion, Abnormal atrioventricular valve morphology, P... ORPHA:324410
Meckel Syndrome, Type 4
Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker mal... OMIM:611134
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Joint hypermobility, Craniosynostosis OMIM:619056
Infantile Sialic Acid Storage Disease
Hepatomegaly, Gingival overgrowth, High palate, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Lambdoidal craniosynostosis, Wide anterior fontanel, Camptodactyly, Coronal cranio... OMIM:207410
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Metopic depression, Steep acetabular roof, Coronal craniosynostosis, Decreased calvar... ORPHA:313855
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing OMIM:613174
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy... OMIM:618280
Hypophosphatasia, Infantile
Unossified vertebral bodies, Decreased calvarial ossification, Craniosynostosis, Widely patent fo... OMIM:241500
Marshall-Smith Syndrome
Joint hypermobility, Craniosynostosis, Reduced bone mineral density, Increased susceptibility to ... ORPHA:561
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis OMIM:241310
Lowry-Maclean Syndrome
Osteopenia, Widely patent coronal suture, Osteoporosis, Trigonocephaly, Small anterior fontanelle... ORPHA:2409
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, Brachycephaly ORPHA:228390
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Polyarticular arthritis, ... ORPHA:289176
Ohdo Syndrome
Thin vermilion border, Short nose, Widely spaced teeth, Small scrotum, Narrow mouth, Hypoplasia o... OMIM:249620
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P... ORPHA:3109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Hypospadias, Hypertrophic cardiomyopathy, Micrognathia, Cleft palate, Hydronephrosis,... OMIM:616897
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis ORPHA:163976
1P31P32 Microdeletion Syndrome
Frontal bossing, Craniosynostosis ORPHA:401986
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Trigonocephaly, Sagittal craniosynostosis, Scaphocephaly OMIM:616901
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Cantu Syndrome
Bicuspid aortic valve, Thick lower lip vermilion, Cardiomegaly, Gingival overgrowth, Pericardial ... OMIM:239850
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Plagiocephaly ORPHA:2163
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Slc35A2-Cdg
Osteopenia, Hip subluxation, Camptodactyly of finger, Limb joint contracture, Joint hypermobility... ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Apert Syndrome
Brachycephaly, Limited elbow movement, Large fontanelles, Lambdoidal craniosynostosis, Delayed ep... OMIM:101200
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Frontal bossing, Craniosynostosis, S... OMIM:616723
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis ORPHA:163971
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Decreased calvarial ossification OMIM:614592
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Osteoporosis, Anterior plagiocephaly, Joint hypermobility OMIM:619718
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Brachycephaly, Osteopenia, Multiple joint dislocation, Genu valgum, Joint hypermobility, Dislocat... OMIM:245600
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Frontal bossing, Craniosynostosis ORPHA:1064
Meckel Syndrome 12
Ureteral hypoplasia, Micrognathia, Bifid uvula, Renal hypoplasia, Vaginal atresia, Hypoplasia of ... OMIM:616258
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Aplasia of the ute... ORPHA:2237
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Osteopenia, Lambdoidal craniosynostosis, Osteoporosis, Ankle clonus, Metopic synos... OMIM:615398
Fibular Hemimelia
Abnormal bone ossification, Limited knee flexion/extension, Hip subluxation, Genu valgum, Hypopla... ORPHA:93323
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Joint hypermobility, Craniosynostosis, Recurrent fractures, Osteomyelitis ORPHA:2314
Pycnodysostosis
Generalized osteosclerosis, Increased bone mineral density, Wormian bones, Delayed cranial suture... ORPHA:763
Choanal Atresia
Craniosynostosis, Tracheomalacia ORPHA:137914
Cranioectodermal Dysplasia 4
Joint hypermobility, Frontal bossing, Sagittal craniosynostosis OMIM:614378
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, High palate, Hypergonadotropic hypogonadism, Microg... OMIM:154230
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele ORPHA:588
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Chiari malformation OMIM:207950
Carpenter Syndrome 1
Brachycephaly, Genu valgum, Lambdoidal craniosynostosis, Camptodactyly, Coronal craniosynostosis,... OMIM:201000
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Camptodactyly, Trigonocephaly, Sagittal craniosynostosis, Scaphocephaly ORPHA:459061
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Coffin-Siris Syndrome 7
Trigonocephaly, Sagittal craniosynostosis OMIM:618027
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Plagiocephaly, Tarsal synostosis, Parietal foramina, Delayed cranial suture closur... ORPHA:85199
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Tatton-Brown-Rahman Syndrome
Talipes valgus, Sagittal craniosynostosis, Patellar subluxation OMIM:615879
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth re... ORPHA:1908
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Craniosynostosis, Limitation of joint mobility ORPHA:178303
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Genu valgum, Vertebral hyperostosis, Arthritis, Limitation... ORPHA:89936
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu valgum, Dislocated radial head, Genu recurvatum, Wide anterior fontanel, Brachyt... OMIM:182212
Pfeiffer Syndrome
Cloverleaf skull, Brachyturricephaly, Coronal craniosynostosis, Humeroradial synostosis, Elbow an... OMIM:101600
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate... ORPHA:2728
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogo... OMIM:235200
Joubert Syndrome 14
Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Ce... OMIM:614424
19P13.12 Microdeletion Syndrome
Brachycephaly, Craniosynostosis, Arthrogryposis multiplex congenita ORPHA:254346
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria, Thick vermilion border ORPHA:3137
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Frontal bossing, Sagittal craniosynostosis OMIM:145420
Fg Syndrome Type 1
Plagiocephaly, Prominent occiput, Limited elbow extension and supination, Craniosynostosis, Widel... ORPHA:93932
3Q29 Microduplication Syndrome
Camptodactyly of toe, Craniosynostosis, Large fontanelles, Biparietal narrowing ORPHA:251038
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Curry-Jones Syndrome
Craniosynostosis ORPHA:1553
Timothy Syndrome
Patent foramen ovale, Microdontia, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect, ... OMIM:601005
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Arthrogryposis multiplex congenita, Metopic synostosis OMIM:301056
9Q21.13 Microdeletion Syndrome
Craniosynostosis ORPHA:531151
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Craniosynostosis, Brachycephaly ORPHA:1790
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Bicornuate ... OMIM:601186
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, Uterus didelphys, Ne... OMIM:146255
Chromosome 10Q26 Deletion Syndrome
Limited elbow extension, Congenital hip dislocation, Frontal bossing, Dolichocephaly, Craniosynos... OMIM:609625
Distal Duplication 5Q
Thin vermilion border, Short nose, Hypospadias, Dextrocardia, Narrow mouth, Cryptorchidism, Cario... ORPHA:96097
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Acrocraniofacial Dysostosis
Craniosynostosis, Turricephaly, Genu valgum ORPHA:949
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Proteinuria, Sple... OMIM:256550
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Meckel Syndrome, Type 2
Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Intrauterine growth retardation OMIM:603194
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Pulmonic stenosis, Hypoplasia of teeth, Hyperphosphaturia, Carious teeth OMIM:613312
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, E... OMIM:212140
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Micrognathia, Cleft palate, Tetralogy of Fallot, Horseshoe kidney, Abnorma... ORPHA:3320
Larsen Syndrome
Large joint dislocations, Laryngotracheomalacia, Joint hypermobility, Craniosynostosis, Accessory... ORPHA:503
Ellis Van Creveld Syndrome
Epispadias, Thin vermilion border, Situs inversus totalis, Atrioventricular canal defect, Hydrour... ORPHA:289
Wildervanck Syndrome
Meningocele ORPHA:3456
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Limitation of joint mobility, Irregular carpal bones, Shallow acetabular ... OMIM:252600
Frontonasal Dysplasia 2
Brachycephaly, Parietal foramina, Anterior plagiocephaly, Craniosynostosis, Calvarial skull defect OMIM:613451
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Humero-Radial Synostosis
Meningocele ORPHA:3265
Distal Deletion 10Q
Brachycephaly, Prominent metopic ridge, Frontal bossing, Craniosynostosis, Hip dislocation ORPHA:96148
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Turricephaly, Dolichocephaly, Cloverleaf skull ORPHA:1555
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv... OMIM:200990
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Plagiocephaly, Multiple joint dislocation, Acetabular dysplasia, Tracheomalacia, Larg... ORPHA:536467
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Plagiocephaly ORPHA:457193
Shprintzen-Goldberg Syndrome
Osteopenia, Genu valgum, Joint stiffness, Frontal bossing, Camptodactyly of finger, Dolichocephal... ORPHA:2462
Neurocutaneous Melanocytosis
Chiari malformation, Dandy-Walker malformation, Aplasia/Hypoplasia of the cerebellum, Meningocele ORPHA:2481
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Craniosynostosis And Dental Anomalies
Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Prominent metopic ridge, Trigonocephaly... OMIM:614188
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long nose, Short nose, Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip ... OMIM:615866
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Brachycephaly ORPHA:93258
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Craniosynostosis, Frontal bossing ORPHA:166035
Paternal Uniparental Disomy Of Chromosome 6
Retrognathia, Hepatomegaly, Gingival overgrowth, High palate, Ventricular septal defect, Cryptorc... ORPHA:96191
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Double Outlet Left Ventricle
Orofacial cleft, Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicusp... ORPHA:3427
Alg3-Cdg
Hypoplasia of the pons, Dandy-Walker malformation, Neural tube defect ORPHA:79321
Pediatric-Onset Graves Disease
Craniosynostosis, Small anterior fontanelle ORPHA:525731
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... ORPHA:268810
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Intrauterine growth retardation, Cerebellar hypoplasia, Edema OMIM:616038
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Genu valgum, Cubitus valgus, Frontal... ORPHA:457395
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Scarf Syndrome
Joint hypermobility, Craniosynostosis ORPHA:3134
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Meckel Syndrome 14
Retrognathia, Polycystic kidney dysplasia, Aplasia of the uterus, Micrognathia, Microretrognathia... OMIM:619879
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Brachycephaly ORPHA:2095
Popliteal Pterygium Syndrome
Bifid scrotum, Cleft upper lip, Bifid uvula, Cleft palate, Fibrous syngnathia, Hypoplasia of the ... OMIM:119500
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Proximal radio-ulnar synostosis, Delayed cranial suture closure, Cr... ORPHA:794
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Chromosome 17Q12 Deletion Syndrome
Retrognathia, Unilateral renal agenesis, Aplasia of the vagina, Mandibular prognathia, Aplasia of... OMIM:614527
Mucolipidosis Ii Alpha/Beta
Osteopenia, Carpal bone hypoplasia, Hip subluxation, Premature anterior fontanel closure, Limitat... OMIM:252500
Alpha-Mannosidosis, Infantile Form
Brachycephaly, Cranial hyperostosis, Talipes valgus, Genu valgum, Osteopenia, Cortical thickening... ORPHA:309282
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Platybasia ORPHA:261197
Triploidy
Polyhydramnios, Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Recurrent fractures ORPHA:251004
Aymé-Gripp Syndrome
Brachycephaly, Plagiocephaly, Large fontanelles, Delayed cranial suture closure, Limitation of jo... ORPHA:1272
Hamamy Syndrome
Brachycephaly, Osteopenia, Neck pterygia, Craniosynostosis, Recurrent fractures OMIM:611174
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Distal Triplication 15Q
Craniosynostosis, Flexion contracture, Camptodactyly ORPHA:314588
Cranioectodermal Dysplasia 3
Frontal bossing, Dolichocephaly, Joint hypermobility, Sagittal craniosynostosis, Scaphocephaly OMIM:614099
Beck-Fahrner Syndrome
Cardiomegaly, High palate, Open mouth, Long philtrum, Ventricular septal defect OMIM:618798
Musculocontractural Ehlers-Danlos Syndrome
Large fontanelles, Recurrent joint dislocation, Craniosynostosis, Arthrogryposis multiplex congen... ORPHA:2953
Enamel-Renal Syndrome
Amelogenesis imperfecta, Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability... ORPHA:1031
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Limited elbow extension, Brachycephaly, Turricephaly, Cubitus valgus, Tarsal synostosis, Craniosy... ORPHA:95699
Müllerian Aplasia And Hyperandrogenism
Short philtrum, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate, Hypoplasia of... ORPHA:247768
Autosomal Recessive Spondylocostal Dysostosis
Intrauterine growth retardation, Meningocele, Spina bifida occulta, Umbilical hernia ORPHA:2311
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Joint hypermobility, Camptodactyly of finger, Bicoronal synostosis OMIM:619951
Fountain Syndrome
Facial edema, Spina bifida occulta, Spina bifida ORPHA:3219
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Tracheobronchomalacia, Joint hypermobility, Bicoronal synostosis OMIM:619184
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
3Mc Syndrome 2
Limited elbow movement, Radioulnar synostosis, Joint hypermobility, Craniosynostosis, Skull asymm... OMIM:265050
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Dislocated radial head, Genu recurvatum, Flexion contracture, Radi... OMIM:130070
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Fused cervical vertebrae, Dislocated radial ... ORPHA:1826
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Mucolipidosis Type Ii
Limited wrist movement, Limitation of joint mobility, Restricted chest movement, Prominent metopi... ORPHA:576
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Short nose, Deep philtrum OMIM:613320
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Marfanoid-Progeroid-Lipodystrophy Syndrome
Craniosynostosis, Hyperextensibility of the finger joints, Scaphocephaly OMIM:616914
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Abnormality of... ORPHA:432
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anterior plagiocephaly, Left unicoronal synostosis, Plagiocephaly OMIM:614749
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, G... OMIM:204690
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
15Q Overgrowth Syndrome
Turricephaly, Dolichocephaly, Contracture of the proximal interphalangeal joint of the 3rd finger... ORPHA:314585
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Hepatomegaly, Short nose, Narrow mouth, Everted lower ... OMIM:608013
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Mogs-Cdg
Retrognathia, Hepatomegaly, External genital hypoplasia, High palate, Hepatosplenomegaly, Left ve... ORPHA:79330
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Frontal bossing, Dolichocephaly OMIM:614114
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Generalized joint hypermobility, Subluxation of the small joints of the hand, Acetabu... ORPHA:536471
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Baller-Gerold Syndrome
Brachycephaly, Limited elbow movement, Large fontanelles, Lambdoidal craniosynostosis, Turricepha... OMIM:218600
Okamoto Syndrome
Short nose, Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect... ORPHA:2729
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Hydrops fetalis, Anemia, Pleural effusion, Reticulocytosis... ORPHA:846
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Wide mouth, Thick ver... ORPHA:1517
Perrault Syndrome 4
Hypoplasia of the ovary, Cleft palate, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Lethal Congenital Contracture Syndrome 10
Narrow palate, Cardiomegaly, High palate, Ventricular septal defect, Micrognathia, Long philtrum,... OMIM:617022
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatomegaly ORPHA:42
Meier-Gorlin Syndrome 7
Copper beaten skull, Dislocated radial head, Wide anterior fontanel, Aplasia/Hypoplasia of the pa... OMIM:617063
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Plagiocephaly, Prominent metopic ridge ORPHA:453499
Beare-Stevenson Cutis Gyrata Syndrome
Flat occiput, Craniosynostosis, Cloverleaf skull, Limited elbow extension OMIM:123790
Microcephaly-Micromelia Syndrome
Humeroradial synostosis, Craniosynostosis OMIM:251230
Scarf Syndrome
Coronal craniosynostosis, Lambdoidal craniosynostosis OMIM:312830
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Cardiomegaly, Abnormal heart valve morphology, Gingival overgrowth, Promin... ORPHA:363705
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Craniosynostosis, Frontal bossing OMIM:250410
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida ORPHA:99742
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Lateral Meningocele Syndrome
Chiari type I malformation, Meningocele, Hydrocephalus, Umbilical hernia, Patent ductus arteriosus OMIM:130720
3Mc Syndrome
Craniosynostosis, Limited pronation/supination of forearm, Radioulnar synostosis, Hip dislocation ORPHA:293843
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Spina bifida ORPHA:1120
Developmental And Epileptic Encephalopathy 95
Long nose, Widely spaced teeth, Hepatomegaly, Gingival overgrowth, Cryptorchidism, Cardiomegaly, ... OMIM:618143
Slc39A8-Cdg
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture ORPHA:468699
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ... ORPHA:284339
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Hydrops fetalis, Polyhydramnios, Anencephaly, Hydrocephalus, Cerebellar ... OMIM:616546
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Cloverleaf skull, Elbow flexion contracture, Frontal bossing, Acetabular ... ORPHA:508533
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Curry-Jones Syndrome
Bicoronal synostosis, Wormian bones, Unicoronal synostosis OMIM:601707
Orofaciodigital Syndrome Type 2
Atrioventricular canal defect, Peg-shaped maxillary lateral incisors, Hypoplastic male external g... ORPHA:2751
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Joint hypermobility, Craniosynostosis, Tracheomalacia ORPHA:412069
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Craniosynostosis, Multiple joint c... ORPHA:33364
Fliedner-Zweier Syndrome
Cerebellar atrophy, Meningocele OMIM:620511
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemo... OMIM:613673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Lambdoidal craniosynostosis, Metopic synostosis, Prominent metopic ridge, Joint hyper... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Lambdoidal craniosynostosis, Metopic synostosis, Prominent metopic ridge, Joint hyper... ORPHA:352665
Lateral Meningocele Syndrome
Chiari malformation, Meningocele, Umbilical hernia ORPHA:2789
Noonan Syndrome 3
Frontal bossing, Dolichocephaly, Left unilambdoid synostosis, Sagittal craniosynostosis, Scaphoce... OMIM:609942
Seckel Syndrome
Joint hypermobility, Craniosynostosis ORPHA:808
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Au-Kline Syndrome
Plagiocephaly, Prominent metopic ridge, Dolichocephaly, Craniosynostosis, Sagittal craniosynostosis OMIM:616580
Fucosidosis
Mucopolysacchariduria, Hepatomegaly, Abnormality of the dentition, Cardiomegaly ORPHA:349
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Patent foramen ovale, ... OMIM:300967
Lathosterolosis
Anisopoikilocytosis, Cerebellar cortical atrophy, Meningocele, Chiari malformation, Abnormal plat... ORPHA:46059
Marshall-Smith Syndrome
Large sternal ossification centers, Prominent occiput, Decreased hip abduction, Frontal bossing, ... OMIM:602535
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Dandy-Walker malformation, Spina bifida, Asplenia, Patent ductus... ORPHA:99776
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:168558
Czeizel-Losonci Syndrome
Hydrocephalus, Spina bifida occulta, Myelomeningocele, Spina bifida ORPHA:2437
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy ORPHA:391428
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... OMIM:130650
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Craniosynostosis, Brachycephaly, Osteopenia ORPHA:369837
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy,... OMIM:201475
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Micrognathia, Bifid uvula, Pierre-Robin sequence, Hydronephrosis, Cleft palate, Car... OMIM:614921
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:289548
Van Den Ende-Gupta Syndrome
Camptodactyly of 2nd-5th fingers, Dislocated radial head, Elbow flexion contracture, Camptodactyl... OMIM:600920
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Oxycephaly OMIM:200995
3Mc Syndrome 1
Lambdoidal craniosynostosis, Wide anterior fontanel, Coronal craniosynostosis, Radioulnar synosto... OMIM:257920
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Prominent metopic ridge, Abnormal occipital bone morphology, Camptodac... ORPHA:468631
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cleft palate, Cardiomyopathy, Natal tooth ORPHA:158687
Intellectual Developmental Disorder, Autosomal Dominant 57
Joint hypermobility, Contracture of the proximal interphalangeal joint of the 4th finger, Cranios... OMIM:618050
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated ... ORPHA:397715
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, High, narrow palate, Hepatomegaly, Myog... ORPHA:228308
Osteoglophonic Dysplasia
Osteopenia, Cloverleaf skull, Camptodactyly of finger, Frontal bossing, Craniosynostosis, Increas... OMIM:166250
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Craniofrontonasal Syndrome
Brachycephaly, Axillary pterygium, Coronal craniosynostosis, Frontal bossing, Joint hypermobility OMIM:304110
Histiocytosis-Lymphadenopathy Plus Syndrome
Retrognathia, Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepat... OMIM:602782
7Q11.23 Microduplication Syndrome
Brachycephaly, Cubitus valgus, Tracheomalacia, Dolichocephaly, Joint hypermobility, Craniosynostosis ORPHA:96121
Cerebrooculonasal Syndrome
Brachycephaly, Craniosynostosis, Frontal bossing, Proboscis OMIM:605627
Acromelic Frontonasal Dysplasia
Retrocerebellar cyst, Encephalocele, Meningocele ORPHA:1827
Iniencephaly
Polyhydramnios, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomening... ORPHA:63259
Nablus Mask-Like Facial Syndrome
Craniosynostosis, Frontal bossing, Camptodactyly, Joint contracture of the hand OMIM:608156
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Wide anterior fontanel, Prominent metopic ridge, Trigonocephaly, Frontal bossing, Cra... OMIM:266920
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Camptodactyly, Joint contracture of the hand OMIM:235510
Say-Barber-Miller Syndrome
Patellar hypoplasia, Ankle clonus, Elbow flexion contracture, Recurrent patellar dislocation, Kne... ORPHA:3132
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Dental malocclusion, Hypoplastic labia majora, High palate, Paranasal sinus hypoplas... OMIM:603457
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Oligohydramnios, Spina bifida, Umbilical hernia OMIM:613776
Dubowitz Syndrome
Joint hypermobility, Craniosynostosis, Delayed cranial suture closure, Wide anterior fontanel ORPHA:235
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Wide anterior fontanel, Sagittal craniosynostosis OMIM:610199
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Aprosencephaly And Cerebellar Dysgenesis
Craniosynostosis OMIM:601374
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Hyperextensibility of the finger joints, Joint hypermobility, Craniosynostosis, Ve... OMIM:213980
Phocomelia, Schinzel Type
Short nose, High, narrow palate, Hypoplasia of penis, Aplasia of the uterus, Micrognathia, Cleft ... ORPHA:2879
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Ketonuria OMIM:255120
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic acidu... OMIM:608836
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Delayed cranial sut... OMIM:101400
Neu-Laxova Syndrome 1
Short umbilical cord, Stillbirth, Polyhydramnios, Small placenta, Hydranencephaly, Dandy-Walker m... OMIM:256520
Arterial Tortuosity Syndrome
Joint hypermobility, Craniosynostosis, Hip dislocation ORPHA:3342
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cardiomegaly, Hypogonadotropic hy... ORPHA:465508
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Joint hypermobility, Craniosynostosis, Frontal bossing OMIM:617506
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... OMIM:309801
Roberts Syndrome
Brachycephaly, Synostosis of carpal bones, Wrist flexion contracture, Radioulnar synostosis, Pate... ORPHA:3103
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Patellar hypoplasia, Dislocated radial head, Parietal foramina, Shallow acet... OMIM:609945
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micrognathia, Cleft palate, M... OMIM:614083
Opitz Gbbb Syndrome
Tracheomalacia, Craniosynostosis, Large fontanelles, Prominent metopic ridge ORPHA:2745
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Lymphatic Malformation 7
Pulmonary edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal tra... OMIM:617300
Cranioectodermal Dysplasia 2
Plagiocephaly, Cloverleaf skull, Metopic synostosis, Frontal bossing, Dolichocephaly, Joint hyper... OMIM:613610
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Everted upper lip vermilion, Bicuspid aortic valve, Lon... OMIM:300855
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Craniosynostosis, Delayed cranial suture closure, Frontal bossing, Scaphocephaly OMIM:620005
Pseudoaminopterin Syndrome
Talipes valgus, Limited elbow movement, Hip subluxation, Synostosis of carpal bones, Frontal boss... ORPHA:221120
Vacterl With Hydrocephalus
Aqueductal stenosis, Polyhydramnios, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:3412
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Arima Syndrome
Molar tooth sign on MRI, Anemia, Cerebellar vermis hypoplasia, Brainstem dysplasia, Dilated fourt... OMIM:243910
Hyperlysinemia
Craniosynostosis ORPHA:2203
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Plagiocephaly ORPHA:1521
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Pelvis-Shoulder Dysplasia
Hydrocephalus, Spina bifida, Hydranencephaly ORPHA:2839
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Neu-Laxova Syndrome
Polyhydramnios, Dandy-Walker malformation, Spina bifida, Intrauterine growth retardation, Cerebel... ORPHA:2671
Phakomatosis Pigmentokeratotica
Lymphedema, Spina bifida ORPHA:2874
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:308552
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Cranioectodermal Dysplasia 1
Osteoporosis, Frontal bossing, Dolichocephaly, Joint hypermobility, Sagittal craniosynostosis, Sc... OMIM:218330
Yunis-Varon Syndrome
Clitoral hypertrophy, Broad secondary alveolar ridge, Glossoptosis, Cardiomyopathy, Cardiomegaly,... ORPHA:3472
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Recurrent fractures ORPHA:667
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Joint hypermobility, Craniosynostosis OMIM:300707
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Intrauterine growth retardation ORPHA:1393
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Williams Syndrome
Hypoplasia of penis, Everted lower lip vermilion, Microdontia, Pulmonic stenosis, Nephrocalcinosi... ORPHA:904
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Patellar aplasia, Joint hypermobility, Craniosynostosis, Elbow dislocation ORPHA:2554
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Limb-Mammary Syndrome
Cleft hard palate, Aplasia of the uterus, Bifid uvula, Cleft palate, Malar flattening, Submucous ... ORPHA:69085
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Narrow mouth, High palate, Malar flattening, Broad philtrum, Cardiomegaly ORPHA:2463
Trisomy 18
Anencephaly, Chiari malformation, Spina bifida, Holoprosencephaly, Intrauterine growth retardatio... ORPHA:3380
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis ORPHA:79396
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Mandibular prognathia, Patent foramen ovale, High palate, Everted lower lip vermil... OMIM:620371
Bohring-Opitz Syndrome
Retrognathia, Prominent palatine ridges, Cleft palate, Micrognathia, Cardiomegaly, Cleft lip, Uri... ORPHA:97297
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of hands, Cerebellar hypoplasia, Anemia, Cerebellar vermis hypoplasia, Leukoc... OMIM:274000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Plagiocephaly, Genu valgum, Frontal bossing, Craniosyno... OMIM:616268
Sickle Cell Disease
Hepatomegaly, Hematuria, Splenomegaly, Cardiomegaly, Renal insufficiency OMIM:603903
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Brachycephaly, Camptodactyly, Trigonocephaly, Flexion contracture, Craniosynostosis OMIM:309590
Coffin-Siris Syndrome 1
Retrognathia, Clitoral hypertrophy, Ectopic kidney, Aplasia of the uterus, Microdontia, Wide mout... OMIM:135900
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Myelomenin... ORPHA:2369
Fucosidosis
Thick lower lip vermilion, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Glycopeptiduria, S... OMIM:230000
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Craniofacial hyperostosis, Abnormality of the den... ORPHA:581
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Flat acetabular roof, Unicoronal synostosis OMIM:616300
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Cleft palate, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Koolen-De Vries Syndrome Due To A Point Mutation
Joint hypermobility, Craniosynostosis, Joint dislocation, Tracheomalacia ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint hypermobility, Craniosynostosis, Joint dislocation, Tracheomalacia ORPHA:363958
Zttk Syndrome
Joint hypermobility, Craniosynostosis, Frontal bossing, Flexion contracture OMIM:617140
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis ORPHA:2136
Focal Dermal Hypoplasia
Patent ductus arteriosus, Spina bifida, Umbilical hernia ORPHA:2092
Myoectodermal Gonadal Dysgenesis Syndrome
Thin vermilion border, Gonadal dysgenesis, Unilateral renal agenesis, Hypodontia, Clitoral hypopl... OMIM:618419
Fontaine Progeroid Syndrome
Brachycephaly, Turricephaly, Wide anterior fontanel, Coronal craniosynostosis, Craniosynostosis OMIM:612289
Branchioskeletogenital Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:1299
Wolf-Hirschhorn Syndrome
Orofacial cleft, Hypospadias, Short philtrum, Hypodontia, Aplasia of the uterus, Short upper lip,... OMIM:194190
Fanconi Anemia
Anemia, Patent ductus arteriosus, Hydrocephalus, Spina bifida, Leukopenia, Thrombocytopenia, Umbi... ORPHA:84
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Thick vermilion border, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Micrognathia, Cleft palate, Hydronephrosis, Complete atr... OMIM:236680
15q26 overgrowth syndrome
Joint hypermobility, Craniosynostosis, Camptodactyly of finger, Abnormal joint morphology DECIPHER:81
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
Degcags Syndrome
Osteopenia, Plagiocephaly, Genu valgum, Tracheomalacia, Craniosynostosis OMIM:619488
Carpenter Syndrome 2
Brachycephaly, Camptodactyly, Trigonocephaly, Frontal bossing, Knee flexion contracture, Craniosy... OMIM:614976
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Splenomegaly, Cardiomegaly, Macroglossia OMIM:232300
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Nephrolithiasis, Renal cyst, Bicornuate uterus, Glycosuri... OMIM:137920
Gabriele-De Vries Syndrome
Dolichocephaly, Distal arthrogryposis, Craniosynostosis, Finger joint hypermobility, Patellar sub... ORPHA:506358
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Hartsfield Syndrome
Craniosynostosis, Hypoplasia of the frontal bone OMIM:615465
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Joint hypermobility, Craniosynostosis, Joint contracture OMIM:618164
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, High palate, Wide nasal bridge OMIM:110100
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Mandi... ORPHA:116
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Open mouth, Aplasia of the vagina ORPHA:457284
Loeys-Dietz Syndrome 3
Osteopenia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee... OMIM:613795
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Frontal bossing, Joint hypermobility, Craniosynostosis, Recurrent fractures OMIM:147060
22Q11.2 Deletion Syndrome
Turricephaly, Arthritis, Multiple suture craniosynostosis, Joint hypermobility, Patellar dislocat... ORPHA:567
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decre... OMIM:241080
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Occipital meningocele OMIM:277170
Loeys-Dietz Syndrome
Joint hypermobility, Craniosynostosis, Camptodactyly of finger, Joint dislocation ORPHA:60030
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Craniosynostosis, Joint contracture of the 5th finger ORPHA:363611
Loeys-Dietz Syndrome 2
Camptodactyly, Osteoporosis, Protrusio acetabuli, Joint hypermobility, Craniosynostosis, Joint co... OMIM:610168
Peters Plus Syndrome
Short nose, Ureteral duplication, Widely spaced teeth, Hypospadias, Hypoplasia of the uterus, Exa... ORPHA:709
Nail-Patella Syndrome
Spina bifida OMIM:161200
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Peters-Plus Syndrome
Ureteral duplication, Pulmonic stenosis, Long philtrum, Agenesis of maxillary lateral incisor, Bi... OMIM:261540
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Fused cervical vertebrae, Brachyturricephaly, Contracture of the distal... ORPHA:83617
Pagod Syndrome
Abnormality of the spleen, Spina bifida, Encephalocele, Meningocele ORPHA:991
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Vascular Ehlers-Danlos Syndrome
Microdontia, Abnormal oral frenulum morphology, Mitral valve prolapse, Cystocele, Hypospadias, Ab... ORPHA:286
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Brachycephaly, Tarsal synostosis, Cloverleaf skull, Camptodactyly, Humeroradial synostosis, Front... OMIM:201750
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Proteus Syndrome
Cranial hyperostosis, Abnormality of the wrist, Hyperostosis, Calvarial hyperostosis, Joint stiff... ORPHA:744
Singleton-Merten Syndrome 1
Hypoplasia of the tooth germ, Eruption failure, Short dental root, Mitral valve calcification, Hy... OMIM:182250
Ehlers-Danlos Syndrome, Vascular Type
Thin vermilion border, Periodontitis, Premature loss of teeth, Cervical insufficiency, Cryptorchi... OMIM:130050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Retrognathia, High, narrow palate, Cardiomegaly ORPHA:91387
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Congenital hydrocele, Oral ulcer, Parotitis, Hepatosplenomegaly, Splenomegaly, Epid... OMIM:620376
Acrofacial Dysostosis, Cincinnati Type
Pterygium, Metopic synostosis, Tracheobronchomalacia, Joint contracture, Acetabular dysplasia, Cr... OMIM:616462
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hyperextensibility at elbow, Sagittal craniosynostosis, Frontal bossing, Joint hypermobility, Met... ORPHA:500150
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Chiari malformation, Spina bifida OMIM:304050
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Doors Syndrome
Brachycephaly, Prominent occiput, Anterior plagiocephaly, Frontal bossing, Sagittal craniosynostosis ORPHA:79500
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Loeys-Dietz Syndrome 1
Joint hypermobility, Craniosynostosis, Camptodactyly OMIM:609192
Vater/Vacterl Association
Occipital encephalocele, Patent ductus arteriosus, Spina bifida, Patent urachus, Intrauterine gro... OMIM:192350
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Holoprosencephaly 7
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc... OMIM:610828
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Plagiocephaly, Sagittal craniosynostosis OMIM:620455
Knobloch Syndrome 1
Occipital encephalocele, Spina bifida occulta, Cerebellar atrophy, Occipital meningocele, Patent ... OMIM:267750
Pallister-Killian Syndrome
Aplasia of the uterus, Everted lower lip vermilion, Aortic valve stenosis, Bifid uvula, Wide mout... OMIM:601803
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Spina bifida OMIM:162200
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:365
Jacobsen Syndrome
Intrauterine growth retardation, Thrombocytopenia, Spina bifida ORPHA:2308
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Spina bifida ORPHA:508498
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Hypospadias, Patent foramen ovale, Alpha-aminobutyric acid... OMIM:619991
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida OMIM:619480
Campomelic Dysplasia
Hydrocephalus, Spinal dysraphism, Polyhydramnios, Spina bifida OMIM:114290
Proteasome-Associated Autoinflammatory Syndrome 1
Thick lower lip vermilion, Hepatomegaly, Parotitis, Recurrent sinusitis, Splenomegaly, Epididymit... OMIM:256040
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy ORPHA:51
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Spina bifida occulta, Accessory spleen, Spina bifida, Patent ductus arteriosus, L... OMIM:180849
Sotos Syndrome
Ankle flexion contracture, Bilateral camptodactyly, Hip contracture, Dolichocephaly, Flexion cont... ORPHA:821
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Narrow palate, Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, High palate, S... OMIM:276820
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Short philtrum, Hypergonadotropic hypogonadism, Polycystic ovaries, Streak ovary, Hypoplasia of t... ORPHA:572333
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Ankle flexion contracture, Elbow flexion contracture, Wrist flexion contracture, K... OMIM:268300
Cutis Laxa, Autosomal Recessive, Type Ib
Neonatal death, Oligohydramnios, Spina bifida OMIM:614437
Microphthalmia, Syndromic 6
Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis OMIM:607932
Femoral-Facial Syndrome
Truncus arteriosus, Patent ductus arteriosus, Encephalocele, Spina bifida OMIM:134780
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia OMIM:304120
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis ORPHA:2968
Marfan Syndrome
Meningocele ORPHA:558
Holoprosencephaly 9
Hydrocephalus, Occipital meningocele, Holoprosencephaly, Alobar holoprosencephaly OMIM:610829
Norrie Disease
Thin vermilion border, Uterine rupture, Malar flattening, Cryptorchidism ORPHA:649
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medullary nephrocalcinosis, Hyperphosphaturia, Pericardial effusion, Nep... ORPHA:51608
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Flexion contracture, Genu valgum, Right unicoronal synostosis, Camptodactyly ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Genu valgum, Right unicoronal synostosis, Camptodactyly, Frontal bossing, Flexion contracture 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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