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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Absence of pubertal development, Non... ORPHA:432
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating... OMIM:619761
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Reduced social reciprocity, Micropenis, Increased serum ... ORPHA:8
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Failure to thrive, Decreased serum testosterone concentr... OMIM:201100
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Ventricular septal defect, Arthritis, A... ORPHA:1937
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl... OMIM:613986
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Small for gestational age, Insulin-resistant diabetes mellitus, Decrea... ORPHA:2959
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h... OMIM:202150
Meningioma
Decreased serum estradiol, Impotence, Secondary growth hormone deficiency, Hypothalamic hypothyro... ORPHA:2495
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Fallot Complex With Severe Mental And Growth Retardation
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle,... OMIM:601127
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... OMIM:618187
Young Syndrome
Azoospermia OMIM:279000
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Clitoral hypertrophy, Irregular menstruation, Long peni... ORPHA:90795
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration OMIM:215470
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Catel-Manzke Syndrome
Failure to thrive, Camptodactyly of finger, Joint stiffness, Ventricular septal defect, Joint hyp... ORPHA:1388
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Death in infancy, Ventricular septal defect OMIM:614876
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Death in infancy, Abnormal mitral valve morphology, Ventricu... ORPHA:1354
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Lambert Syndrome
Failure to thrive in infancy, Intrauterine growth retardation, Branchial anomaly, Inguinal hernia... ORPHA:1296
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Abnormal circulatin... ORPHA:90794
Adrenocortical Carcinoma
Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur... ORPHA:1501
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:615297
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Ventricular septal defect OMIM:619717
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Hypoplastic l... ORPHA:739
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Inguinal hernia, Ventricular septal defect, Sagittal craniosynostosi... OMIM:314320
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Steinert Myotonic Dystrophy
Male hypogonadism, Cholelithiasis, Impotence, Decreased response to growth hormone stimulation te... ORPHA:273
Robinow Syndrome
Webbed penis, Small scrotum, Decreased serum testosterone concentration, External genital hypopla... ORPHA:97360
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia, Ventricular septal defect OMIM:615524
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur... ORPHA:85450
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Intrauterine growth retardation, Decreased calvarial ossification, Ventri... ORPHA:2772
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Inguinal hernia, Multiple suture craniosynostosis, Ventricular septal ... ORPHA:3369
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, ... OMIM:615279
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular... OMIM:616276
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Ventricular septal defect OMIM:613759
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
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... OMIM:614262
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Failure to thrive, Breast hypoplasia, Oligozoospermia, Diabetes mellitus, Small for gestational a... OMIM:614813
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ... ORPHA:1209
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Osteolysis involving tarsal bones, Incre... ORPHA:371428
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Decreased serum testosterone concentration, Absent scrotum, Cryptorchidism, Absence ... ORPHA:495875
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Joint hypermobility, Ventricular septal defect, Transposition of the great a... ORPHA:261243
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal female external genitalia morphology, Increased circulating ACTH leve... ORPHA:90790
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... ORPHA:860
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Obesity, Partial atrioventricular canal defect, Ventricular septal defect... 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
Hadziselimovic Syndrome
Ventricular hypertrophy, Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Atria... OMIM:612946
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Death in ... OMIM:620609
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large for gestational age, Large placenta, Ventricul... ORPHA:254534
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Death in infancy, Ventricular septal defect OMIM:616277
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defe... OMIM:616897
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Filippi Syndrome
Intrauterine growth retardation, Ventricular septal defect, Decreased body weight OMIM:272440
Insulin-Like Growth Factor I, Resistance To
Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Patent foramen ovale, Decre... OMIM:270450
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Joint hypermobility, Ventricular septal... OMIM:614815
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Joi... ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 47
Joint hypermobility, Intrauterine growth retardation, Small for gestational age, Ventricular sept... OMIM:617635
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Bloom Syndrome
Azoospermia, Oligozoospermia, Abdominal obesity, Premature ovarian insufficiency, Diabetes mellit... ORPHA:125
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint hypermobility, Joint stiffness, Reduced bone mineral density, Ventricular septal defect OMIM:620210
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Failure to thrive, Tracheomalacia, Tetralogy of Fallot, Mitral valve pro... OMIM:612561
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Glycosuria, Failure to thrive, Death in infancy, Ventricular septal defect, Arthrogryposis multip... OMIM:613404
Primary Non-Essential Cutis Verticis Gyrata
Keloids, Atrial septal defect, Ventricular septal defect ORPHA:357225
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Joint stiffness, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:1166
Periventricular Nodular Heterotopia 7
Failure to thrive, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... OMIM:617201
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Weill-Marchesani Syndrome
Aortic valve stenosis, Limitation of joint mobility, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Joint hypermobility, Truncus arteriosus, Ventric... OMIM:615583
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Atrial septal defect, Ventricular septal defect ORPHA:49827
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Failure to thrive, Intrauterine growth retardation, Ventricular septal defect, Decreased body wei... OMIM:617452
Recombinant Chromosome 8 Syndrome
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... OMIM:179613
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Joint hypermobility, Ventricular septal defect OMIM:602501
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Diabetes... OMIM:249270
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Joint hypermobility, ... ORPHA:1488
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Decreased skull ossification, Omphalocele, Ventricular septal defect ORPHA:93267
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of... ORPHA:1913
Congenital Rubella Syndrome
Type I diabetes mellitus, Intrauterine growth retardation, Atrial septal defect, Ventricular sept... ORPHA:290
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Joint stiffness, Truncus arteriosus, Intrauterine growth retardation, Ventricular septal defect ORPHA:2516
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Failure to thrive, Intrauterine growth retardation, Ventricular septal defect, Decreased body wei... ORPHA:505237
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Limited elbow extension and supination, Truncus arteriosus, Ventricula... ORPHA:401935
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
ERI1-related disease
Osteopenia, Failure to thrive, Abnormal heart morphology, Intrauterine growth retardation, Limite... OMIM:608739
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation... OMIM:612938
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Failure to thrive, Glycosuria, Umb... OMIM:600001
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Intrauterine growth retardation, Joint hypermobility, Ventricular septal defect... OMIM:617751
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati... OMIM:220210
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Flexion contracture, Small for gestational age, Ventricular sept... ORPHA:79243
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Noonan Syndrome 8
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Ventricular septal def... OMIM:615355
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect... OMIM:208085
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Failure to thrive, Umbilical hernia, Inguinal hernia, Patent foramen ovale, Ventricular septal de... ORPHA:329224
Contractural Arachnodactyly, Congenital
Osteopenia, Elbow flexion contracture, Limited elbow extension, Knee flexion contracture, Hip con... OMIM:121050
Grange Syndrome
Increased susceptibility to fractures, Ventricular septal defect ORPHA:79094
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Glucose intolerance, Impaired glucose tolerance, Ventricular septal defect OMIM:615630
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Inguinal he... OMIM:208530
Aase-Smith Syndrome I
Flexion contracture, Death in infancy, Ventricular septal defect OMIM:147800
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental enamel morpholog... ORPHA:1782
Li-Campeau Syndrome
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:619189
Desbuquois Syndrome
Joint hypermobility, Radioulnar synostosis, Ventricular septal defect, Camptodactyly of finger ORPHA:1425
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Emanuel Syndrome
Aortic valve stenosis, Failure to thrive, Intrauterine growth retardation, Inguinal hernia, Conge... OMIM:609029
Microcephaly-Capillary Malformation Syndrome
Failure to thrive, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect... OMIM:614261
Roifman Syndrome
Noncompaction cardiomyopathy, Intrauterine growth retardation, Hip contracture, Ventricular septa... OMIM:616651
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Meacham Syndrome
Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly... OMIM:608978
Suleiman-El-Hattab Syndrome
Failure to thrive, Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Atrial septa... OMIM:618950
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro... ORPHA:293978
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Joint hypermobility, Atrial septal defect, Abdominal obesity, Camptoda... OMIM:301039
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Intrauterine growth retardation, Hypoplastic right heart, Atrial septal defect, Ventricular septa... OMIM:618142
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Ventricular septal defect OMIM:214300
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Osteopenia, Abnormal heart valve morphology, Large for gestational age, Ve... ORPHA:363705
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Ventricular septal defect ORPHA:398156
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Intrauterine growth retardation, Death in infancy, Ventricular septal defect, ... OMIM:614576
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Spina bifida, Ventri... ORPHA:2345
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Flexion contracture, Atrial septal defect, Ventricular s... OMIM:613870
King-Denborough Syndrome
Joint hypermobility, Failure to thrive, Ventricular septal defect OMIM:619542
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Hydranencephaly, Ventricular septal defect OMIM:601355
Genitopalatocardiac Syndrome
Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect OMIM:231060
Transaldolase Deficiency
Failure to thrive, Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defe... OMIM:606003
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Patent foramen ovale, Ventricular septal defect, Decreased body ... OMIM:609053
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... ORPHA:3282
Trisomy X
Joint hypermobility, Atrial septal defect, Ventricular septal defect ORPHA:3375
Inverted Duplicated Chromosome 15 Syndrome
Hernia, Tetralogy of Fallot, Joint hypermobility, Ventricular septal defect ORPHA:3306
Chromosome 5Q12 Deletion Syndrome
Decreased body mass index, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:615668
Short Stature-Micrognathia Syndrome
Failure to thrive, Intrauterine growth retardation, Joint hypermobility, Ventricular septal defec... OMIM:617164
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Joint contracture of the hand, Umbilical h... OMIM:201000
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Ventricular septal defect, Hiatus hernia, Atrial septal defect, Overweight OMIM:619769
Diamond-Blackfan Anemia 7
Osteopenia, Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growth retardation, ... OMIM:612562
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sagittal craniosynostosis, Death in childhood, Death in infancy, Ventricular septal defect OMIM:616901
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Polysyndactyly With Cardiac Malformation
Stillbirth, Atrial septal defect, Ventricular septal defect OMIM:263630
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Brachydactyly, Type B1
Camptodactyly, Vertebral fusion, Joint contracture of the hand, Ventricular septal defect OMIM:113000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Failure to thrive in infancy, Abnormal heart morphology, Patent foramen ovale, Ventricular septal... ORPHA:477817
Timothy Syndrome
Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Obesity, Ventricular septal defect, Atrial septal defect, Cranio... ORPHA:254346
Emanuel Syndrome
Aortic valve stenosis, Failure to thrive, Intrauterine growth retardation, Inguinal hernia, Conge... ORPHA:96170
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Pelger-Huet Anomaly
Ventricular septal defect, Failure to thrive, Umbilical hernia OMIM:169400
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect OMIM:245552
Phaver Syndrome
Camptodactyly of finger, Myelomeningocele, Joint stiffness, Intrauterine growth retardation, Vent... ORPHA:2876
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Intrauterine growth retardation, Ventricular septal defect, Double outlet right ventricle, Cranio... OMIM:301056
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Tatton-Brown-Rahman Syndrome
Sagittal craniosynostosis, Ventricular septal defect, Atrial septal defect, Umbilical hernia OMIM:615879
Seckel Syndrome 9
Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricular septal defect, Atri... OMIM:616777
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Overriding aorta, Small for gestational age, Ventricular septal ... OMIM:617021
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Failure to thrive, Biventricular hypertrophy, Coronary artery fistula, Co... OMIM:619343
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Patent foramen ovale, Ventricular septal defect, Joint hypermobility, Li... OMIM:618870
Tyshchenko Syndrome
Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hypoplastic left... OMIM:306955
Woods Syndrome
Limited elbow extension, Ventricular septal defect OMIM:615236
Spondylo-Ocular Syndrome
Joint hypermobility, Osteoporosis, Ventricular septal defect ORPHA:85194
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellit... ORPHA:769
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Tetralogy of Fallot, Intrauterine growth retardation, Inguinal hernia, C... OMIM:601186
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Contractures of the large joints, Ventricular septal defect ORPHA:3078
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Obesity, Hypoketotic hypoglycemia, Patent foramen ovale, Ventricular sept... ORPHA:26793
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Hypoplastic tricuspid valve, Failure to thrive, Con... ORPHA:2255
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Joint stiffness, Ventricular septal defect... ORPHA:392
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:607598
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Umbilical hernia, Failure to thrive in inf... OMIM:601808
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Omphalocele, Ventricular septal defect OMIM:601357
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricular ... OMIM:617602
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Elbow flexion contracture, Carpal synostosis, Inguinal hernia, Knee flexion co... OMIM:178110
Fliedner-Zweier Syndrome
Obesity, Joint hypermobility, Ventricular septal defect, Bicuspid aortic valve, Meningocele OMIM:620511
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary, Abdominal obesity OMIM:619321
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Costello Syndrome
Abnormal dental enamel morphology, Failure to thrive in infancy, Hypertrophic cardiomyopathy, Mit... ORPHA:3071
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Atrial septal defect, ... OMIM:611134
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Pericard... OMIM:618775
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Pontocerebellar Hypoplasia, Type 17
Intrauterine growth retardation, Secundum atrial septal defect, Ventricular septal defect OMIM:619909
Prune Belly Syndrome
Tetralogy of Fallot, Atrial septal defect, Failure to thrive, Ventricular septal defect ORPHA:2970
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Sotos Syndrome
Muscular ventricular septal defect, Glucose intolerance, Ventricular septal defect, Increased bod... OMIM:117550
Braddock-Carey Syndrome 1
Camptodactyly, Enamel hypoplasia, Aortic valve prolapse, Ventricular septal defect OMIM:619980
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Cachexia, Failure to thrive, Ventricular septal defect ORPHA:217346
Mosaic Variegated Aneuploidy Syndrome 2
Intrauterine growth retardation, Ventricular septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:614114
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Obesity, Decreased body weight, Ventricular septal defect, Joint... OMIM:619229
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect ORPHA:75389
Acrocardiofacial Syndrome
Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, D... ORPHA:2008
Filippi Syndrome
Intrauterine growth retardation, Limitation of joint mobility, Ventricular septal defect ORPHA:3255
De Barsy Syndrome
Osteopenia, Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Inguinal hernia... ORPHA:2962
Yuan-Harel-Lupski Syndrome
Failure to thrive, Joint hypermobility, Ventricular septal defect, Bicuspid aortic valve, Double ... OMIM:616652
Alg9-Cdg
Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary ORPHA:79328
Double Outlet Right Ventricle
Hypoplastic left heart, Failure to thrive, Tetralogy of Fallot, Truncus arteriosus, Ventricular s... ORPHA:3426
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Contrac... ORPHA:457279
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Failure to thrive, Abnormal heart morphology, Atrioventricular canal defect, Intraute... ORPHA:453499
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial septal defect, Omphalocele, Ventricular septal defect OMIM:601927
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Failure to thrive, Myofiber disarray, Patent foramen ovale, Ventricular s... OMIM:620519
Distal Deletion 19P
Keloids, Umbilical hernia, Ventricular septal defect, Joint hypermobility, Tricuspid valve prolap... ORPHA:96129
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Intrauterine growth retardat... OMIM:300998
Kagami-Ogata Syndrome
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Omphalocele, Flexion contractur... OMIM:608149
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Sclerosis of skull base, Inguinal hernia, Ventricular septal defect, J... OMIM:130720
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis, Atrial septal def... OMIM:145420
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intrauterine growth retardation, Death in childhood, Death in infancy, Ventricular septal defect,... OMIM:243150
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Craniosynostosis, Intrauterine growth retardation, Inguinal hernia, Ventricular septal defect ORPHA:166035
Zellweger Syndrome
Epiphyseal stippling, Failure to thrive, Death in infancy, Ventricular septal defect ORPHA:912
Koolen-De Vries Syndrome
Failure to thrive, Intrauterine growth retardation, Ventricular septal defect, Joint hypermobilit... OMIM:610443
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Cardiac Diverticulum
Aortic valve stenosis, Congenital defect of the pericardium, Umbilical hernia, Abnormal heart mor... ORPHA:1686
Loeys-Dietz Syndrome 5
Failure to thrive in infancy, Inguinal hernia, Reduced subcutaneous adipose tissue, Ventricular s... OMIM:615582
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve... OMIM:600987
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect... OMIM:613001
Lethal Congenital Contracture Syndrome 10
Stiff neck, Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Overriding ... OMIM:617022
Methimazole Embryofetopathy
Intrauterine growth retardation, Ventricular septal defect ORPHA:1923
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Knee flexion contracture, Ventricular septal defect OMIM:603387
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Kapur-Toriello Syndrome
Joint contracture of the hand, Camptodactyly of finger, Intrauterine growth retardation, Ventricu... OMIM:244300
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Tetrasomy 9P
Inappropriate behavior, Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility ORPHA:3310
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Osteopenia, Limited elbow extension, Ventricular septal defect, Atrial septal defect, Severe intr... OMIM:620663
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Warsaw Breakage Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect OMIM:613398
Thakker-Donnai Syndrome
Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula... ORPHA:1780
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Umbilical hernia, Mitral atresia, Intrauterine gro... OMIM:618164
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Atrial septal defect, Inguinal hernia, Ventricular septal defect ORPHA:261190
Transketolase Deficiency
Type I diabetes mellitus, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def... ORPHA:488618
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Ventricular septal defect OMIM:616037
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Failure to thrive, Coronary artery fistula, Ventricular septal defect, Neonatal death, Atrial sep... OMIM:620024
Scimitar Syndrome
Hypoplastic left heart, Abnormal heart morphology, Tetralogy of Fallot, Mitral atresia, Ventricul... ORPHA:185
Alagille Syndrome
Failure to thrive, Intrauterine growth retardation, Ventricular septal defect, Atrial septal defe... ORPHA:52
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Intrauterine growth retardation, Epiphyseal stippling, Death in infancy, Ventr... OMIM:614866
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Umbilical hernia, Inguinal hernia, Joint hypermobility, Ventricular se... ORPHA:2789
C Syndrome
Fused sternal ossification centers, Failure to thrive, Omphalocele, Ventricular septal defect OMIM:211750
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... ORPHA:1335
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Ventricular septal defect ORPHA:452
Hajdu-Cheney Syndrome
Aortic valve stenosis, Osteopenia, Coarse metaphyseal trabecularization, Failure to thrive, Umbil... ORPHA:955
Mosaic Trisomy 9
Limitation of joint mobility, Camptodactyly of finger, Abnormal heart valve morphology, Intrauter... ORPHA:99776
Kapur-Toriello Syndrome
Tetralogy of Fallot, Failure to thrive, Ventricular septal defect ORPHA:2328
Focal Dermal Hypoplasia
Coarse metaphyseal trabecularization, Camptodactyly of finger, Umbilical hernia, Abnormal dental ... ORPHA:2092
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Failure to thrive, Atrioventricular canal defect, Abnormal heart valv... ORPHA:289
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Tracheomalacia, Umbilical hernia, Obesity, Inguinal hernia, Ventricular ... OMIM:620654
Cohen Syndrome
Failure to thrive in infancy, Intrauterine growth retardation, Obesity, Mitral valve prolapse, Ve... ORPHA:193
3Q29 Microduplication Syndrome
Camptodactyly of toe, Craniosynostosis, Obesity, Ventricular septal defect ORPHA:251038
Trisomy 18
Camptodactyly of finger, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventri... ORPHA:3380
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Mosaic Trisomy 16
Abnormal heart morphology, Intrauterine growth retardation, Large placenta, Ventricular septal de... ORPHA:1708
Trichothiodystrophy
Osteopenia, Cardiomyopathy, Umbilical hernia, Intrauterine growth retardation, Absence of subcuta... ORPHA:33364
X Small Rings
Mitral stenosis, Ventricular septal defect, Joint hypermobility, Bicuspid aortic valve, Osteoporo... ORPHA:96201
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Intrauterine growth retardation, Inguinal hernia, Congenital diaphragmat... OMIM:614294
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint hypermobility, Ventricular septal defect, Atrial septal defect, Flexion contracture, Hypere... OMIM:309520
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Distal Duplication 5Q
Hernia, Craniosynostosis, Dextrocardia, Ventricular septal defect ORPHA:96097
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Hajdu-Cheney Syndrome
Osteopenia, Foot acroosteolysis, Failure to thrive, Umbilical hernia, Pathologic fracture, Inguin... OMIM:102500
Cerebrocostomandibular Syndrome
Hydranencephaly, Tracheomalacia, Myelomeningocele, Intrauterine growth retardation, Death in infa... ORPHA:1393
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Death in infancy, Ventricular septal defect OMIM:300514
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Joint contracture of the hand, Umbilical hernia, Ventricular septal def... OMIM:235510
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Camptodactyly of finger, Elbow flexion contracture, Joint contracture o... OMIM:602782
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Schinzel-Giedion Syndrome
Central hypothyroidism, Annular pancreas, Failure to thrive in infancy, Streak ovary, Micropenis,... ORPHA:798
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect, Atrial septal d... OMIM:264480
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Ventricular septal defect, Stippling... ORPHA:79345
Noonan Syndrome 9
Pulmonic stenosis, Ventricular septal defect OMIM:616559
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Inguinal hernia, Ventr... OMIM:607721
Orotic Aciduria
Atrial septal defect, Failure to thrive, Ventricular septal defect OMIM:258900
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v... ORPHA:3427
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Craniofacial osteosclerosis, Failure to thrive, Tracheomalacia, Sc... OMIM:300373
Frank-Ter Haar Syndrome
Osteopenia, Secundum atrial septal defect, Cortical irregularity, Mitral valve prolapse, Ventricu... OMIM:249420
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Death in infancy, Truncus arteriosus, Ventricular septal defect, Atrial sept... OMIM:617478
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Intrauterine growth retardation, Corneal scarring, Ventricular septal defect, Flexion contracture... OMIM:614653
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Congenita... ORPHA:3097
Marshall-Smith Syndrome
Failure to thrive, Large sternal ossification centers, Umbilical hernia, Death in childhood, Decr... OMIM:602535
Congenital Disorder Of Glycosylation, Type Iiaa
Hypoglycemia, Knee flexion contracture, Ventricular septal defect OMIM:620454
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Marden-Walker Syndrome
Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Joint stiffness, Sit... ORPHA:2461
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Inguinal hernia, Patent foramen ovale, Ventricular septal defect... OMIM:269860
Hand-Foot-Genital Syndrome
Synostosis of carpal bones, Miscarriage, Ventricular septal defect ORPHA:2438
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Intrauterine growth retardation, ... ORPHA:96191
Holoprosencephaly
Spinal dysraphism, Hypoglycemia, Failure to thrive in infancy, Tetralogy of Fallot, Abnormal pulm... ORPHA:2162
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... OMIM:115470
Chops Syndrome
Tracheomalacia, Obesity, Patent foramen ovale, Ventricular septal defect, Cervical C2/C3 vertebra... OMIM:616368
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Camptodactyly of finger, Intrauterine growth retardation, Inguinal hernia, Ven... ORPHA:261330
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Tracheomalacia, Biventricular hypertrophy, Te... OMIM:618280