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Gene: Lin28a MGI:1890546

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lin-28 homolog A
Synonyms:
Tex17,  Lin28a,  Lin28,  Lin-28

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Lin28a mutations

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

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

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

The table below shows human diseases predicted to be associated to Lin28a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad... ORPHA:163971
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat... ORPHA:453533
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... ORPHA:432
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility OMIM:615703
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology... ORPHA:1937
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Failure to thrive, Hypogonadism, Decreased testicular... OMIM:201100
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility, Atri... ORPHA:1388
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Ventricular septal defect, Death in infancy OMIM:614876
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... ORPHA:330015
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Death in childhood OMIM:253300
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Failure to thrive in infancy, Branchial anomaly, Intr... ORPHA:1296
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Premature Ovarian Failure 14
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:618014
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, Small for gestational age, External ge... ORPHA:97360
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Ventricular septal defect OMIM:619717
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect, Small for gestational age, Sagittal craniosynostosis,... OMIM:314320
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... ORPHA:2298
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossif... ORPHA:2772
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Inguinal hernia, Ventricular septal defect, Multiple suture craniosyno... ORPHA:3369
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Reduced bone mineral density, Pulmonic stenosis, Atrial septal defect,... OMIM:615279
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Intrauterine grow... OMIM:616276
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving b... ORPHA:371428
16P13.11 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Joint hyperflexibility, Transposition of the great a... ORPHA:261243
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Failure to th... OMIM:614813
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Gapo Syndrome
Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia ORPHA:2067
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Obesity, Hypoplastic left heart... OMIM:615996
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Alg6-Cdg
Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration ORPHA:79320
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Fa... OMIM:612946
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect, Decreased body weight OMIM:272440
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Ventricular septal defect, Large for gestational age, Lar... ORPHA:254534
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Lipodystrophy,... OMIM:270450
Intellectual Developmental Disorder, Autosomal Dominant 47
Joint laxity, Intrauterine growth retardation, Ventricular septal defect, Small for gestational age OMIM:617635
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Ventricular septal defect, Fractured radius, Small for gestational age, Cardiomegaly,... OMIM:616897
Joubert Syndrome 18
Joint laxity, Occipital encephalocele, Ventricular septal defect, Camptodactyly, Intrauterine gro... OMIM:614815
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Diabetes mellitus, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... ORPHA:500159
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint stiffness, Ventricular septal defect, Joint hypermobility, Reduced bone mineral density OMIM:620210
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Glycosuria, Arthrogryposis multiplex congenita, Fail... OMIM:613404
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age, ... ORPHA:125
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Tracheomalacia, Mitral val... OMIM:612561
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness ORPHA:1166
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Weill-Marchesani Syndrome
Aortic valve stenosis, Limitation of joint mobility, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Ventricular septal defect, Small for gestational ... OMIM:615583
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Ventricular septal defect, Hernia OMIM:602501
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Reduced bone... ORPHA:1488
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Flexion contracture, Decreased body weight, Atrial septal defect, Intr... OMIM:617452
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Diabetes mellitus, Ventricular septal defect ORPHA:49827
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Joint contracture of the hand, Pulmonic stenosis, Camptodactyly, Atria... OMIM:179613
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial sept... OMIM:249270
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, Joint stiffness ORPHA:2516
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Decreased skull ossification, Ventricular septal defect ORPHA:93267
Congenital Rubella Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Type I diabetes... ORPHA:290
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Limb joint contracture, Ventricular septal defect, Decre... ORPHA:505237
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Diabetes mellitus, Cong... OMIM:600001
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Death in childhood, Umbilical hernia, Hypertrophic cardiomyopathy, Fai... OMIM:612938
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Atrial septal defect, Intrauterin... ORPHA:1913
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Intellectual Developmental Disorder, Autosomal Dominant 48
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Umbilical hernia, Tracheobronchom... OMIM:617751
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atria... OMIM:615355
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Intrauterine growth retardation, Flexion contracture, Ventricular sept... ORPHA:79243
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Small for gestational age, Atrial septal defect, Art... OMIM:208085
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... OMIM:208530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Ventricular septal defect, Obesity OMIM:615630
Grange Syndrome
Ventricular septal defect, Increased susceptibility to fractures ORPHA:79094
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Limited elbow exte... OMIM:121050
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Umbilica... ORPHA:329224
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... ORPHA:1782
Aase-Smith Syndrome I
Death in infancy, Flexion contracture, Ventricular septal defect OMIM:147800
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Desbuquois Syndrome
Joint hyperflexibility, Radioulnar synostosis, Ventricular septal defect, Camptodactyly of finger ORPHA:1425
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida ORPHA:2476
Emanuel Syndrome
Inguinal hernia, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, ... OMIM:609029
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Atrial septal defect, Failure to thrive, Pa... OMIM:614261
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ... OMIM:608978
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect, Intrauterine growth ret... OMIM:616651
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... ORPHA:363705
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Ventricular septal defect OMIM:214300
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect ORPHA:398156
Suleiman-El-Hattab Syndrome
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Failure to thrive, Patent foram... OMIM:618950
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Ventricular septal d... ORPHA:2345
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardatio... OMIM:614576
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect OMIM:618330
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hypoplastic rig... OMIM:618142
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Ventricular septal defect, Interphalangeal thumb joint... OMIM:613870
King-Denborough Syndrome
Failure to thrive, Ventricular septal defect, Joint hypermobility OMIM:619542
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Fused cervical vertebrae, Decreased body weight, Atrial septal defect,... OMIM:609053
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Transaldolase Deficiency
Ventricular septal defect, Small for gestational age, Atrial septal defect, Intrauterine growth r... OMIM:606003
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Ventricular septal defect, Abdominal obesity, Camptodactyly, Atrial septal defect OMIM:301039
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Inverted Duplicated Chromosome 15 Syndrome
Hernia, Tetralogy of Fallot, Ventricular septal defect, Joint hypermobility ORPHA:3306
Short Stature-Micrognathia Syndrome
Joint laxity, Ventricular septal defect, Decreased body weight, Intrauterine growth retardation, ... OMIM:617164
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, Sagittal craniosynostosis, Spina bifida occulta, Obesity,... OMIM:201000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Camptodac... ORPHA:369891
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
3C Syndrome
Death in infancy, Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology, A... ORPHA:7
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Decreased body mass index OMIM:615668
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Overweight, Atrial septal defect, Umbilical hernia OMIM:619769
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Sagittal craniosynostosis, Death in childhood OMIM:616901
Brachydactyly, Type B1
Vertebral fusion, Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thri... ORPHA:477817
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Diamond-Blackfan Anemia 7
Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Osteoporosis, Intrauterine ... OMIM:612562
Emanuel Syndrome
Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong... ORPHA:96170
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outl... OMIM:618316
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Craniosynostosis, Obesity, Atrial septal defect, Arthrogryposis multip... ORPHA:254346
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Pelger-Huet Anomaly
Umbilical hernia, Failure to thrive, Ventricular septal defect OMIM:169400
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Ventricular septal defect, Osteoporosis ORPHA:447980
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Myelomeningocele, Radioulnar... ORPHA:2876
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Hypoplasia of the ovary, Decreased testicular size, Abdominal obesity OMIM:619321
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia OMIM:617450
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Intrauterine growth retardation, Overriding aorta, Ventricular septal ... OMIM:617021
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Small for gestational age, Craniosynostosis, Pulmonic stenosis, Arthro... OMIM:301056
Tyshchenko Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Woods Syndrome
Limited elbow extension, Ventricular septal defect OMIM:615236
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Neonatal insulin-depe... ORPHA:2255
Seckel Syndrome 9
Ventricular septal defect, Small for gestational age, Congenital diaphragmatic hernia, Atrial sep... OMIM:616777
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Contractures of the large joints, Ventricular septal defect ORPHA:3078
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Sagittal craniosynostosis OMIM:615879
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial... OMIM:619343
Microphthalmia, Syndromic 9
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atr... OMIM:601186
Spondylo-Ocular Syndrome
Joint hyperflexibility, Ventricular septal defect, Osteoporosis ORPHA:85194
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Holt-Oram Syndrome
Ventricular septal defect, Joint stiffness, Anomalous pulmonary venous return, Radioulnar synosto... ORPHA:392
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Small for gestational age, Pericardial effusion, Overweight, Dilated c... ORPHA:26793
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect, Anterior encephalocele OMIM:601357
Chromosome 18Q Deletion Syndrome
Joint laxity, Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Failure... OMIM:601808
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint laxity, Ventricular septal defect, Limited elbow extension, Limited knee extension, Finger ... OMIM:618870
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Inguinal hernia, Ventricular septal defect, Elbow contracture,... OMIM:178110
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly, Atrial septal defect, ... OMIM:617602
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent foramen ovale,... OMIM:618494
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Atrial septal defect, Intraut... OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina... ORPHA:1908
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale, Joint stiffness OMIM:614961
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynostosis OMIM:618027
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Small for gestational age, Pericardial effusion, Intrauterine growth r... OMIM:618775
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Failure to thrive in infancy, Mitra... ORPHA:3071
Burn-Mckeown Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect OMIM:608572
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Trisomy 13
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Hernia ORPHA:3378
Prune Belly Syndrome
Atrial septal defect, Failure to thrive, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
Sotos Syndrome
Joint laxity, Ventricular septal defect, Muscular ventricular septal defect, Increased body weigh... OMIM:117550
Chromosome 6Pter-P24 Deletion Syndrome
Joint laxity, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tetralogy of Fal... OMIM:612582
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Failure to thrive, Ventricular septal defect, Cachexia ORPHA:217346
Braddock-Carey Syndrome 1
Enamel hypoplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Overweight, Obesity, Death in adolescence, Decreased body weight, Intr... OMIM:619229
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:619909
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Ventricular septal defect, Craniosynostosis, Severe intrauterine growt... OMIM:614114
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect ORPHA:75389
Gm1 Gangliosidosis
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Abnormal he... ORPHA:354
Filippi Syndrome
Intrauterine growth retardation, Limitation of joint mobility, Ventricular septal defect ORPHA:3255
Yuan-Harel-Lupski Syndrome
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventricle, Fa... OMIM:616652
Cardiac Valvular Dysplasia 1
Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular... OMIM:212093
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep... ORPHA:2008
Double Outlet Right Ventricle
Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left hea... ORPHA:3426
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Camptodactyly, Atrial septal defect, Intrauterine growth retardation, ... OMIM:617360
De Barsy Syndrome
Osteopenia, Inguinal hernia, Ventricular septal defect, Lipodystrophy, Generalized joint laxity, ... ORPHA:2962
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hypoglycemia, Abnormal heart morphology, Contra... ORPHA:457279
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Ventricular septal defect, Bicuspid aortic valve, Craniosynostosis, Abnormal heart mo... ORPHA:453499
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Flexion contracture, Pulmonic stenosis, ... OMIM:608149
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Codas Syndrome
Joint hyperflexibility, Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1458
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Omphalocele, Overriding aorta, Ventricular septal defect OMIM:601927
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Meningocele,... OMIM:130720
Zellweger Syndrome
Epiphyseal stippling, Failure to thrive, Ventricular septal defect, Death in infancy ORPHA:912
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Death in infancy, Ventricular septal defect, Death in childhood, Intrauterine growth... OMIM:243150
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... OMIM:300998
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Sagittal craniosynostosis, Atrial septal defect, Coronal ... OMIM:145420
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Intrauterine growth retardation, Inguinal hernia, Ventricular septal defect, Craniosynostosis ORPHA:166035
Lethal Congenital Contracture Syndrome 10
Omphalocele, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Intrauterine ... OMIM:617022
Distal Deletion 19P
Vaginal hernia, Ventricular septal defect, Keloids, Joint hyperflexibility, Tricuspid valve prola... ORPHA:96129
Methimazole Embryofetopathy
Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
Koolen-De Vries Syndrome
Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Pu... OMIM:610443
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Lipoma, Subvalvular aortic stenosis, Atrial septal defect, Multiple ce... OMIM:613001
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Ventricular septal defect, Failure to thriv... OMIM:615582
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Cardiac Diverticulum
Omphalocele, Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular se... ORPHA:1686
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Knee flexion contracture OMIM:603387
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Intrauterine growth ret... OMIM:244300
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Bohring-Opitz Syndrome
Ventricular septal defect, Flexion contracture, Camptodactyly, Atrial septal defect, Intrauterine... OMIM:605039
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Transketolase Deficiency
Ventricular septal defect, Abnormal heart morphology, Type I diabetes mellitus, Atrial septal def... ORPHA:488618
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... OMIM:600987
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... ORPHA:1780
15Q14 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect ORPHA:261190
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Coronary artery fistula, Neonatal death, At... OMIM:620024
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Inappropriate behavior, Infertility, Micropenis ORPHA:3310
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Warsaw Breakage Syndrome
Intrauterine growth retardation, Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Scimitar Syndrome
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... ORPHA:185
Myopathy With Extrapyramidal Signs
Joint laxity, Ventricular septal defect OMIM:615673
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Noonan Syndrome 4
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... OMIM:610733
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Alagille Syndrome
Failure to thrive, Ventricular septal defect, Atrial septal defect, Intrauterine growth retardati... ORPHA:52
C Syndrome
Omphalocele, Fused sternal ossification centers, Failure to thrive, Ventricular septal defect OMIM:211750
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Ventricular septal defect, Small for gestational age, Death in adolescence, Epi... OMIM:614866
Diabetic Embryopathy
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Spinal dysra... ORPHA:1926
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Meningocele, Joint hyperfl... ORPHA:2789
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
3P25.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Knee flexion contracture ORPHA:435638
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Pentalogy Of Cantrell
Omphalocele, Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... ORPHA:1335
Kapur-Toriello Syndrome
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect ORPHA:452
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diap... ORPHA:2092
Beck-Fahrner Syndrome
Ventricular septal defect, Joint hypermobility, Cardiomegaly OMIM:618798
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Hajdu-Cheney Syndrome
Osteopenia, Inguinal hernia, Failure to thrive, Ventricular septal defect, Mitral stenosis, Recur... ORPHA:955
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... ORPHA:261183
Radio-Tartaglia Syndrome
Ventricular septal defect, Obesity OMIM:619312
Mosaic Trisomy 16
Small for gestational age, Ventricular septal defect, Maternal diabetes, Large placenta, Abnormal... ORPHA:1708
Cohen Syndrome
Ventricular septal defect, Failure to thrive in infancy, Obesity, Mitral valve prolapse, Joint hy... ORPHA:193
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona... OMIM:614294
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... ORPHA:33364
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect, Obesity, Craniosynostosis ORPHA:251038
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Ventricular septal defect, Flexion contrac... OMIM:309520
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Distal Duplication 5Q
Hernia, Ventricular septal defect, Dextrocardia, Craniosynostosis ORPHA:96097
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... ORPHA:210122
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Ventricular septal defect, Osteoporosis, Foot acrooste... OMIM:102500
X Small Rings
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Osteoporosis, Reduced bone minera... ORPHA:96201
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Limitation of joint mobility, Obesity, Hernia, ... ORPHA:261494
Trisomy 1Q
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Cerebrocostomandibular Syndrome
Death in infancy, Hydranencephaly, Ventricular septal defect, Spina bifida, Myelomeningocele, Men... ORPHA:1393
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Elbow flexion contracture, Mitr... OMIM:602782
Pseudotrisomy 13 Syndrome
Omphalocele, Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular ca... OMIM:264480
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Small for gestational age, Cryptorchidism, Long penis, Hypoplasia of the thymus, Inc... OMIM:264090
Leigh Syndrome
Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Intrauterine growth retarda... ORPHA:506
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone... ORPHA:3455
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Intrauterine growth retardation OMIM:300514
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Spina bifida occul... OMIM:235510
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Inguinal hernia, Ventricular septal defect, Large for gestational ag... OMIM:607721
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Central hypothyroidism, Micropenis, Annu... ORPHA:798
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Failure to thrive, Ventricular septal defect OMIM:212066
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Ventricular septal defect, Abnormal ossification involving the fe... ORPHA:79345
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Orotic Aciduria
Atrial septal defect, Failure to thrive, Ventricular septal defect OMIM:258900
Oculodentodigital Dysplasia
Ventricular septal defect, Camptodactyly of finger, Abnormal dental enamel morphology, Hypoglycem... ORPHA:2710
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Perimembranous ventricular septal defect... OMIM:158170
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... ORPHA:3427
Char Syndrome
Symphalangism of the 5th finger, Ventricular septal defect ORPHA:46627
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Ventricular septal defect OMIM:617061
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Craniosynostosis ORPHA:457193
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Failure to thrive, Ventricular septal defect, Tracheomalacia, Craniofacial osteoscle... OMIM:300373
Frank-Ter Haar Syndrome
Osteopenia, Ventricular septal defect, Secundum atrial septal defect, Osteoporosis, Mitral valve ... OMIM:249420
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect OMIM:218350
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... OMIM:617478
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger OMIM:616920
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Ventricular septal defect, Anencephaly, Neonatal death, Intrauterin... OMIM:269860
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Joint stiffness, Situs inversus... ORPHA:2461
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul... ORPHA:3097
Marshall-Smith Syndrome
Omphalocele, Failure to thrive, Decreased hip abduction, Ventricular septal defect, Recurrent fra... OMIM:602535
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Limited hip extension, Flexion contracture, Corneal scarring, Intraute... OMIM:614653
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Holoprosencephaly
Omphalocele, Encephalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:2162
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:222448
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:617516
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect, Synostosis of carpal bones ORPHA:2438
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Fused cervical vertebrae, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Cat Eye Syndrome
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... OMIM:115470
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Fanconi Anemia, Complementation Group C
Small for gestational age, Intrauterine growth retardation, Flexion contracture, Ventricular sept... OMIM:227645
Chops Syndrome
Ventricular septal defect, Obesity, Anomalous pulmonary venous return, Tracheomalacia, Cervical C... OMIM:616368
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epiphyseal stippling, Failure to thrive, Ventricular septal defect, Death in childhood OMIM:214100
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale OMIM:620113
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... OMIM:619657
Ogden Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:276432
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Joint hyp... ORPHA:261330
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect OMIM:616449
Keutel Syndrome
Ventricular septal defect ORPHA:85202
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Mgat2-Cdg
Osteopenia, Failure to thrive, Ventricular septal defect, Abnormal heart morphology ORPHA:79329
Apert Syndrome
Overriding aorta, Ventricular septal defect, Limited elbow movement, Sagittal craniosynostosis, C... OMIM:101200
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Generalized joint laxity, Ventricular septal defect, Increased susceptibility to frac... ORPHA:251028
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Joint hypermobility, Hypoglycemia, Failure to thrive in infancy, Failu... OMIM:619418
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Carpal synostosis, Ventricular septal defect, Bicuspid aortic valve, Delayed proxim... OMIM:271640
Joubert Syndrome 14
Encephalocele, Meningocele, Ventricular septal defect OMIM:614424
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Camptodactyly OMIM:300963
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Trac... OMIM:618280
Syndromic Diarrhea
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Abn... ORPHA:84064
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Ventricular septal defect, Small for gestational age, Ankle flexio... ORPHA:464311
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Inguinal hernia, Ventricular septal defect OMIM:235255
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Jacobsen Syndrome
Ventricular septal defect, Flexion contracture, Atrial septal defect, Intrauterine growth retarda... OMIM:147791
Noonan Syndrome 3
Ventricular septal defect, Sagittal craniosynostosis, Left unilambdoid synostosis, Mitral valve p... OMIM:609942
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:611812
Mosaic Trisomy 1
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:1692
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Tracheomalacia, Cardiomegaly, Partial anomalous pul... ORPHA:95430
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Small for gestational age, Joint stiffness, Pericard... OMIM:139210
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary veno... OMIM:270100
Mckusick-Kaufman Syndrome
Failure to thrive, Ventricular septal defect, Tarsal synostosis, Hypoplastic left heart, Atrial s... ORPHA:2473
Codas Syndrome
Omphalocele, Ventricular septal defect, Generalized joint laxity, Delayed ossification of carpal ... OMIM:600373
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Craniosynostosis, Pulmonic stenosis, Atrial septal defect, Failure to ... OMIM:617506
Trichohepatoenteric Syndrome 1
Small for gestational age, Ventricular septal defect, Large placenta, Tetralogy of Fallot, Pulmon... OMIM:222470
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Death in infancy, Failure to thrive, Ventricular septal defect, Shoulder flexion... OMIM:210710
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Failure to t... ORPHA:209905
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect OMIM:126320
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Tracheomalacia, Craniosynostosis, Congenital diaphrag... ORPHA:96121
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Intrauterine growth... ORPHA:2209
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Tracheomalacia, Craniosynostosis, Congen... ORPHA:2745
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Ventricular septal defect, Tarsal synostosis, Congenital diaphra... OMIM:157800
Phelan-Mcdermid Syndrome
Ventricular septal defect, Joint hypermobility, Cellulitis OMIM:606232
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Meier-Gorlin Syndrome 7
Joint laxity, Ventricular septal defect, Sagittal craniosynostosis, Craniosynostosis, Complete at... OMIM:617063
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Failure to thrive, Patent foramen ovale, Inguinal hernia OMIM:613457
Esophageal Atresia
Omphalocele, Ventricular septal defect, Small for gestational age, Maternal diabetes, Failure to ... ORPHA:1199
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Failur... ORPHA:444072
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Hypoglycemia, Cardiomegaly OMIM:614921
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Ventricular septal defect, Obesity, Ventricular septal hypertrophy OMIM:614947
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Weill-Marchesani Syndrome 1
Ventricular septal defect, Joint stiffness, Pulmonic stenosis, Aortic valve stenosis, Thin bony c... OMIM:277600
Neu-Laxova Syndrome 1
Hydranencephaly, Ventricular septal defect, Spina bifida, Yellow subcutaneous tissue covered by t... OMIM:256520
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Ventricular septal defect, Intrauterine g... ORPHA:464306
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial sept... OMIM:616564
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
Weill-Marchesani Syndrome 2
Ventricular septal defect, Joint stiffness, Elbow flexion contracture, Pulmonic stenosis, Umbilic... OMIM:608328
3Mc Syndrome 1
Omphalocele, Ventricular septal defect, Radioulnar synostosis, Lambdoidal craniosynostosis, Atria... OMIM:257920
22Q11.2 Deletion Syndrome
Inguinal hernia, Failure to thrive, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:567
Omodysplasia 1
Ventricular septal defect, Limited knee flexion, Limited hip movement, Limited knee extension, Li... OMIM:258315
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilic... OMIM:618454
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Limited elbow movement, Pulmonic stenosis, Atri... OMIM:610759
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Dysplastic tricuspid valve, Fused cervical vertebrae... ORPHA:1724
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Larsen Syndrome
Joint laxity, Vertebral fusion, Ventricular septal defect, Tracheomalacia, Multiple carpal ossifi... OMIM:150250
Autosomal Recessive Robinow Syndrome
Death in infancy, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:1507
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Ventricular septal defect, Camptodactyly of finger, Obesity ORPHA:3138
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Partial an... OMIM:265380
Recombinant 8 Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Camptodactyly of finger ORPHA:96167
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynost... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Sagittal craniosynost... ORPHA:352665
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Distal arthrogryposis, Ventricular septal defect, Decreased body weight OMIM:618268
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Joint contracture of the h... OMIM:280000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Generalized j... ORPHA:508498
Coffin-Siris Syndrome
Joint laxity, Ventricular septal defect, Abnormal heart morphology, Hernia, Atrial septal defect,... ORPHA:1465
Simpson-Golabi-Behmel Syndrome
Omphalocele, Vertebral fusion, Death in infancy, Inguinal hernia, Ventricular septal defect, Camp... ORPHA:373
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:2519
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Contracture of the proximal int... ORPHA:464738
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Inguinal hernia, Diabetes mellitus, Bicuspid aortic valve, Ventricular ... OMIM:194050
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Intrauterine growth retardation, Ventricular septal defect, Type I diabetes mellitus ORPHA:436252
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Ventricular septal defect OMIM:615503
Cornelia De Lange Syndrome 1
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hiatus hernia, Elbow... OMIM:122470
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Decreased hip abduction, Ventricular septal defect, Mitral stenosis, Tri... OMIM:143095
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Craniosynostosis,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Craniosynostosis,... ORPHA:363958
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Failure to thrive, Ventricular septal defect, Joint hypermobility OMIM:619575
Ogden Syndrome
Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardi... OMIM:300855
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Fryns Syndrome
Omphalocele, Ventricular septal defect, Large for gestational age, Stillbirth, Aplasia of the lef... OMIM:229850
Down Syndrome
Joint laxity, Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalou... OMIM:190685
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender b... OMIM:300967
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Joint hypermobility OMIM:617798
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Ventricular septal defect, Recurrent fractures, Osteoporosis, Increased susceptibilit... OMIM:259770
Costello Syndrome
Hyperextensibility of the finger joints, Ventricular septal defect, Hypoglycemia, Limited elbow m... OMIM:218040
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Tran... ORPHA:99050
Tbck-Related Intellectual Disability Syndrome
Osteoporosis, Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Failure to thrive, Ventricular septal defect OMIM:244450
Pallister-Hall Syndrome
Neonatal death, Intrauterine growth retardation, Ventricular septal defect OMIM:146510
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Limited elbow extension, Hypoplastic le... OMIM:142900
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Patent foramen ovale OMIM:616894
Duane-Radial Ray Syndrome
Atrial septal defect, Fused cervical vertebrae, Spina bifida occulta, Ventricular septal defect OMIM:607323
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Ventricular septal defect, Interphalangeal joint contracture of finger, Miscarriage,... ORPHA:96334
Rubinstein-Taybi Syndrome 1
Joint laxity, Ventricular septal defect, Small for gestational age, Spina bifida, Flexion contrac... OMIM:180849
Zttk Syndrome
Ventricular septal defect, Craniosynostosis, Flexion contracture, Atrial septal defect, Intrauter... OMIM:617140
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Opitz Gbbb Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect OMIM:300000
Diamond-Blackfan Anemia 10
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... ORPHA:2299
Catel-Manzke Syndrome
Joint laxity, Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Camptod... OMIM:616145
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Failure to thrive, Ventricular septal defect, Slender build, Abnormal left ventricl... ORPHA:466791
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect, Craniosynostosis OMIM:250410
Jacobsen Syndrome
Death in infancy, Inguinal hernia, Ventricular septal defect, Spina bifida, Hypoplastic left hear... ORPHA:2308
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Spina bifida occulta, Join... ORPHA:904
Degcags Syndrome
Osteopenia, Ventricular septal defect, Small for gestational age, Tracheomalacia, Craniosynostosi... OMIM:619488
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Flexion contracture, Double outlet right ventricle, Mitr... OMIM:300166
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Abnormal right ventricle m... ORPHA:500095
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Histiocytoid Cardiomyopathy
Failure to thrive, Ventricular septal defect, Hypoglycemia, Cardiomegaly ORPHA:137675
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary valve atresia, Atrial septal defect, Intrauterine growth ret... OMIM:301030
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Death in infancy, Ventricular septal defect, Spina bifida, Fused cervical vert... OMIM:274000
Congenital Disorder Of Glycosylation, Type Iiw
Inguinal hernia, Failure to thrive, Ventricular septal defect, Osteoporosis, Type I diabetes mell... OMIM:619525
Velocardiofacial Syndrome
Umbilical hernia, Inguinal hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:192430
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, Small for gestat... ORPHA:268261
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Limb Body Wall Complex
Ventral hernia, Encephalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Spina ... ORPHA:2369
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:1655
8Q24.3 Microdeletion Syndrome
Joint laxity, Branchial cyst, Inguinal hernia, Ventricular septal defect, Small for gestational a... ORPHA:508488
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect OMIM:300472
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Ventricular septal defect, Dilatation of the ventricular cavity, Osteoporosis, L... ORPHA:459070
Femoral-Facial Syndrome
Inguinal hernia, Ventricular septal defect, Limited elbow movement, Maternal diabetes, Humeroradi... OMIM:134780
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Ventricular septal defect, Cellulitis OMIM:153400
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Joint hyperflexibility, Atrial septal defect,... ORPHA:3047
Diets-Jongmans Syndrome
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Jo... OMIM:618846
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:268249
Hardikar Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Osteoporosis, Atrial septal... OMIM:301068
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Pulmonic stenosis, Atrial septal defect, Intrauterine ... OMIM:614609
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Obesity, Abnormal heart morphology, Tracheomalacia, Cervical C2/C3 ver... ORPHA:444077
Craniofacioskeletal Syndrome
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect OMIM:300712
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect OMIM:610338
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Inguinal hernia, Cor triatriatum, Ventricular septal defect, Dextrocardia, Failure to... OMIM:619534
Liver Disease, Severe Congenital
Joint laxity, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, ... OMIM:619991
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Intrauterine growth retardation, Failure to thrive, Ventricular septal defect, Ventricular septal... OMIM:608670
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Osteomyelitis, Ventricular septal defect, Bicuspid aortic valve, Overweight, Obesit... OMIM:619475
Chime Syndrome
Ventricular septal defect, Osteolysis, Tetralogy of Fallot, Transposition of the great arteries, ... ORPHA:3474
Keutel Syndrome
Ventricular septal defect, Miscarriage, Premature fusion of phalangeal epiphyses, Costal cartilag... OMIM:245150
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Spina bifida occulta, Atrial septal defect, Intrau... OMIM:105650
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... OMIM:309801
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Obesity, Abnormal heart morpholog... ORPHA:353281
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic... OMIM:100300
Smith-Lemli-Opitz Syndrome
Death in infancy, Ventricular septal defect, Epiphyseal stippling, Atrial septal defect, Intraute... OMIM:270400
Chromosome 16P13.3 Duplication Syndrome
Inguinal hernia, Ventricular septal defect, Cervical C5/C6 vertebrae fusion, Camptodactyly, Atria... OMIM:613458
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Tetralogy of Fallot, Radioulnar... OMIM:192350
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Death in childhood, Joint contracture of the h... OMIM:309500
Arboleda-Tham Syndrome
Ventricular septal defect, Craniosynostosis, Secundum atrial septal defect, Pulmonic stenosis, At... OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Obesity, Corneal scarring, Abnorm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Obesity, Corneal scarring, Abnorm... ORPHA:353277
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, At... ORPHA:818
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Thauvin-Robinet-Faivre Syndrome
Large for gestational age, Inguinal hernia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Wolf-Hirschhorn Syndrome
Vertebral fusion, Ventricular septal defect, Small for gestational age, Abnormal sternal ossifica... OMIM:194190
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hyperextensibility of the finger joints, Hip contracture, Reduced subcutaneous adip... OMIM:619503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Ost... ORPHA:438213
Hydrolethalus Syndrome 1
Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Stil... OMIM:236680
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Congenital diaphragmatic hernia, Radioulnar synostosis, Tetralogy of F... OMIM:154400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Intrauterine growth retardation, Ventricular septal defect, Patent foramen ovale OMIM:616975
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Failure to thrive, Ventricular septal defect ORPHA:1934
Okamoto Syndrome
Omphalocele, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal ... ORPHA:2729
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Bone cyst, Abnormal heart morphology, Mitral valve prolapse, Pulmonic ... ORPHA:363700
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Inguinal hernia, Ventricular septal defect OMIM:123700
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Tricuspid valve prolapse, ... ORPHA:261337
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Ventricular septal defect, Death in childhood OMIM:600460
Yunis-Varon Syndrome
Absent sternal ossification, Ventricular septal defect, Cardiomegaly, Decreased skull ossificatio... ORPHA:3472
Johanson-Blizzard Syndrome
Joint laxity, Diabetes mellitus, Ventricular septal defect, Small for gestational age, Situs inve... OMIM:243800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Hyperextensibility of the finger joints, Ventricular septal defect ORPHA:163979
Goldberg-Shprintzen Syndrome
Ventricular septal defect OMIM:609460
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Ventricular septal defect, Thin bony cortex OMIM:619727
Cornelia De Lange Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Truncal obesity, Rad... ORPHA:199
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Lower-limb joint contracture, Failure to thrive, Ventricular septal defect ORPHA:513456
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hiatus hernia, Ventricular septal defect, Reduced bone mineral density OMIM:616682
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tetralogy of Fallot ORPHA:1519
Cerebrocostomandibular Syndrome
Atrial septal defect, Calcaneal epiphyseal stippling, Ventricular septal defect, Elbow flexion co... OMIM:117650
Diamond-Blackfan Anemia
Atrial septal defect, Small for gestational age, Ventricular septal defect, Abnormal heart morpho... ORPHA:124
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Inguinal hernia OMIM:613884
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Noonan Syndrome 1
Ventricular septal defect, Failure to thrive in infancy, Synovitis, Pulmonic stenosis, Atrial sep... OMIM:163950
Coffin-Siris Syndrome 1
Joint laxity, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Spina ... OMIM:135900
Alagille Syndrome 1
Atrial septal defect, Failure to thrive, Tetralogy of Fallot, Ventricular septal defect OMIM:118450
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect OMIM:263520
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect OMIM:206900
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Peters-Plus Syndrome
Joint laxity, Ventricular septal defect, Limited elbow movement, Craniosynostosis, Pulmonic steno... OMIM:261540
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Joint laxity, Inguinal hernia, ... OMIM:619472
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... OMIM:301043
Renal Agenesis
Ventricular septal defect ORPHA:411709
Phace Association
Ventricular septal defect OMIM:606519
Ulnar-Mammary Syndrome
Inguinal hernia, Ventricular septal defect, Elbow flexion contracture, Obesity, Stiff elbow OMIM:181450
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Craniosynostosis, Frontal encephalocele, El... OMIM:268300
Pallister-Hall Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Distal arthrogryposis, Atr... ORPHA:672
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1071
Feingold Syndrome 1
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su... ORPHA:99125
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cardiomyopathy, Umbi... OMIM:312870
Yunis-Varon Syndrome
Absent sternal ossification, Ventricular septal defect, Small for gestational age, Failure to thr... OMIM:216340
Sotos Syndrome
Joint laxity, Hip contracture, Inguinal hernia, Ventricular septal defect, Ankle flexion contract... ORPHA:821
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Ventricular septal defect, Obesity, Umbilical hernia, Truncus ar... OMIM:188400
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aplasia of the left hemidiaphragm, Ventricular septal defect, Aortopulmonary window OMIM:620025
Alzahrani-Kuwahara Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement OMIM:619268
Townes-Brocks Syndrome 1
Ventricular septal defect, Small for gestational age, Umbilical hernia, Atrial septal defect, Met... OMIM:107480
Eisenmenger Syndrome
Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacterial endocardit... ORPHA:97214
Charge Syndrome
Omphalocele, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplast... OMIM:214800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Umbilical hernia, Ventricular septal defect OMIM:620330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Joint hypermobi... OMIM:619522
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Maternal diabetes ORPHA:49
Genitopatellar Syndrome
Hip contracture, Ventricular septal defect, Knee flexion contracture, Radioulnar synostosis, Atri... OMIM:606170
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Flexion... OMIM:601803
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Joint hypermobility OMIM:147920
Orofaciodigital Syndrome Xiv
Atrial septal defect, Occipital encephalocele, Ventricular septal defect OMIM:615948
Congenital Tracheal Stenosis
Ventricular septal defect, Hypoplastic left heart ORPHA:141127
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve mor... ORPHA:261552
Mowat-Wilson Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal heart morphology OMIM:235730
Proboscis Lateralis
Ventricular septal defect ORPHA:141099
Orofaciodigital Syndrome Type 14
Ventricular septal defect ORPHA:434179
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Ventricular septal defect, Branchial anomaly, Tetralogy... OMIM:164210

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 Lin28a

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 Lin28a.

No publications found that use IMPC mice or data for Lin28a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Lin28atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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