Gene Summary

Name:
AF4/FMR2 family, member 4
Synonyms:
Alf4,  Laf4l

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.

Phenotype System Allele Zyg Sex Life Stage P Value
edema Aff4em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Aff4em1(IMPC)Mbp HOM   Early adult 0.00
decreased body length Aff4em1(IMPC)Mbp HET   Early adult 7.30×10-05
increased freezing behavior Aff4em1(IMPC)Mbp HET Early adult 7.88×10-08
abnormal blood vessel morphology Aff4em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Aff4em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Aff4em1(IMPC)Mbp HOM E15.5 0.00
abnormal skin morphology Aff4em1(IMPC)Mbp HET Early adult 0.00
increased grip strength Aff4em1(IMPC)Mbp HET   Early adult 4.76×10-05
abnormal caudal vertebrae morphology Aff4em1(IMPC)Mbp HET   Early adult 1.19×10-06
anophthalmia Aff4em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Aff4em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Aff4em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Aff4em1(IMPC)Mbp HET Early adult 0.00
small kidney Aff4em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Aff4em1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

16 Images

Gross Morphology Embryo E9.5

Images

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Aff4 mutations

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

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

The table below shows human diseases associated to Aff4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chops Syndrome
Aspiration pneumonia, Obesity, Cryptorchidism, Short stature, Anomalous pulmonary venous return OMIM:616368
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia, Decreased response to growth hormone stimulation test, Obesity, Hypothyroid... ORPHA:444077

The table below shows human diseases predicted to be associated to Aff4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
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 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
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
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
Young Syndrome
Obstructive azoospermia, Decreased fertility, Recurrent bronchitis, Recurrent sinopulmonary infec... ORPHA:3471
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Young Syndrome
Congenital pulmonary airway malformation, Azoospermia, Recurrent bronchitis, Recurrent sinopulmon... OMIM:279000
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
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 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
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 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Short stature ORPHA:85274
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Deleted in azoospermia
Azoospermia OMIM:400003
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypergonadot... ORPHA:2183
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Microphthalmia OMIM:616570
Spermatogenic Failure 17
Male infertility OMIM:617214
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Cryp... ORPHA:261483
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Ciliary Dyskinesia, Primary, 50
Chronic bronchitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein... OMIM:620356
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Tall stature, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Micropenis, Obesity OMIM:615983
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypogonadism, Decreased testic... OMIM:614962
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
47,Xyy Syndrome
Varicocele, Tall stature, Azoospermia, Cryptorchidism, Reduced social reciprocity, Increased seru... ORPHA:8
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Reduced progressive sperm motility, Short spe... OMIM:620438
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion OMIM:613885
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Short stature, Hypoplasia of penis ORPHA:3055
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
48,Xyyy Syndrome
Male hypogonadism, Recurrent upper respiratory tract infections, Tall stature, Azoospermia, Prima... ORPHA:99329
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Bardet-Biedl Syndrome 16
Bronchiolitis, Hypogonadism, External genital hypoplasia, Obesity, Short stature, Recurrent respi... OMIM:615993
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
48,Xxyy Syndrome
Recurrent respiratory infections, Decreased testicular size, Azoospermia, Tall stature, Obesity, ... ORPHA:10
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:99330
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Atelectasis, Penile hypospadias, ... OMIM:300219
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Short stature, Hypospadias ORPHA:141333
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Short stature, Primary gonadal insufficiency, Gonadal tissue in... ORPHA:261519
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology, Short stature ORPHA:2233
Nanophthalmos
Microphthalmia ORPHA:35612
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
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
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Growth delay, Microphthalmia ORPHA:2528
Nanophthalmos 4
Microphthalmia OMIM:615972
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
48,Xxxy Syndrome
Small scrotum, Recurrent respiratory infections, Hypogonadism, Decreased testicular size, Azoospe... ORPHA:96263
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Increased circulating g... OMIM:300869
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Ciliary Dyskinesia, Primary, 29
Infertility, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism OMIM:615982
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hemochromatosis, Type 1
Azoospermia, Pleural effusion, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Imp... OMIM:235200
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Ring Chromosome 21 Syndrome
Azoospermia, Amenorrhea, Short stature, Infertility, Diabetes insipidus ORPHA:1445
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Absence of pubertal development, Cryptorchidism, Hypogonadotr... OMIM:610628
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Mehmo Syndrome
External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Growth del... ORPHA:85282
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Tall stature, Azoospermia, ... OMIM:400045
Hydrolethalus
Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia ORPHA:2189
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Trisomy 13
Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Hy... ORPHA:3378
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
49,Xxxxy Syndrome
Small scrotum, Recurrent respiratory infections, Hypogonadism, Decreased testicular size, Azoospe... ORPHA:96264
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616171
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Birth length l... OMIM:300148
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Short sperm flagella, Recurrent respiratory infections, Bronchiectasis, Male... OMIM:620197
Bardet-Biedl Syndrome 2
Hypogonadism, External genital hypoplasia, Obesity, Diabetes mellitus OMIM:615981
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Cofs Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1466
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... ORPHA:254531
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Ring Chromosome 22 Syndrome
Azoospermia, Growth delay, Inappropriate behavior, Pleural effusion ORPHA:1446
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Congenital Myopathy 9A
Short stature, Obesity, Cryptorchidism, Death in infancy OMIM:618822
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Xk Aprosencephaly Syndrome
Polyhydramnios, Microphthalmia ORPHA:3469
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Mmep Syndrome
Microphthalmia ORPHA:3434
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Trisomy 5P
Short stature, Hypoplasia of penis, Obesity ORPHA:1742
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Growth delay, Aplasia/hypoplasia of the uterus,... ORPHA:2232
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Obesity, Reduced social reciprocity, Hyperinsulinemia ORPHA:329249
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Congenital Toxoplasmosis
Ascites, Intrauterine growth retardation, Microphthalmia ORPHA:858
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Wagr Syndrome
Obesity, Cryptorchidism, Displacement of the urethral meatus, Ambiguous genitalia, Short stature ORPHA:893
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis, Male infertility OMIM:300991
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Growth delay OMIM:615234
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Solitary Median Maxillary Central Incisor
Short stature, Anophthalmia, Microphthalmia OMIM:147250
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell... OMIM:601820
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Int... OMIM:616222
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Kyphoscoliosis, Aggressive behavior, Hyperactivity,... ORPHA:3077
Hartsfield Syndrome
Intrauterine growth retardation, Encephalocele, Microphthalmia ORPHA:2117
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Anophthalmia, Increased nuchal translucency ORPHA:261344
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Anophthalmia, Microphthalmia ORPHA:77298
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Male infertility, Absent inner and outer dynein... OMIM:618801
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus, Short st... ORPHA:2377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... ORPHA:254516
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia OMIM:206920
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Postnatal growth retardation, Obesity, Intrauterine growth retardation ORPHA:254525
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia, Polyhydramnios ORPHA:3412
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity, Short stature OMIM:245800
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Bone Marrow Failure Syndrome 5
Hypogonadism, Short stature, Testicular atrophy, Pulmonary fibrosis, Growth delay OMIM:618165
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Tall stature, Obesity, Female pseudohermaphrodit... ORPHA:91
Bloom Syndrome
Recurrent upper respiratory tract infections, Bronchiectasis, Postnatal growth retardation, Azoos... OMIM:210900
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism, Obesity OMIM:300238
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Immotile sperm, Absent central microtubular pair morph... OMIM:617091
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Meier-Gorlin Syndrome 4
Failure to thrive, Emphysema, Breast hypoplasia, Intrauterine growth retardation, Cryptorchidism,... OMIM:613804
Atkin-Flaitz Syndrome
Short stature, Macroorchidism, Obesity ORPHA:1193
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71526
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Small for gestational age ORPHA:70589
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Recurrent upper respiratory tract infections, Cryptorchidism ORPHA:589905
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism, Recurrent respiratory infections OMIM:615633
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Spina bifida, Shawl scrotum, Micropenis OMIM:620439
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Bloom Syndrome
Pneumonia, Bronchitis, Azoospermia, Intrauterine growth retardation, Respiratory tract infection,... ORPHA:125
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Growth delay, Abnormality of th... ORPHA:300298
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... ORPHA:60033
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Postnatal growth retardation, Obesity, ... ORPHA:96184
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Short stature, Hypoplas... ORPHA:251066
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Chronic bronchit... OMIM:613807
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Recurrent phar... ORPHA:168569
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Microphthalmia ORPHA:2547
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Lymphatic Malformation 12
Neonatal death, Death in adolescence, Pleural thickening, Hydrocele testis, Recurrent upper and l... OMIM:620014
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Pulmonary fibro... ORPHA:457240
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:603194
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Acrodysostosis 2 With Or Without Hormone Resistance
Intrauterine growth retardation, Obesity, Congenital hypothyroidism, Cryptorchidism, Hypospadias,... OMIM:614613
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Atelectasis, Pulmonary situs ambiguus, Respiratory t... ORPHA:244
Warburg Micro Syndrome 1
Short stature, Microphthalmia OMIM:600118
Ciliary Dyskinesia, Primary, 9
Pneumonia, Male infertility, Recurrent sinusitis, Bronchiectasis, Absent outer dynein arms OMIM:612444
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... ORPHA:79127
Pierpont Syndrome
Short stature, Microphthalmia OMIM:602342
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia ORPHA:228390
17Q12 Microduplication Syndrome
Polyhydramnios, Microphthalmia ORPHA:261272
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Congenital Rubella Syndrome
Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa... ORPHA:398069
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... OMIM:600955
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Ciliary Dyskinesia, Primary, 18
Male infertility, Chronic bronchitis, Recurrent sinusitis, Immotile sperm, Absent inner dynein ar... OMIM:614874
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Pierpont Syndrome
Microphthalmia ORPHA:487825
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Growth delay, Microphthalmia OMIM:610756
Microphthalmia, Syndromic 9
Severe short stature, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, Sh... OMIM:601186
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Increased body mass inde... OMIM:614450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia OMIM:300863
13Q12.3 Microdeletion Syndrome
Failure to thrive, Intrauterine growth retardation, Obesity, Cryptorchidism, Short stature, Recur... ORPHA:412035
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Excessive shyness, Short stature OMIM:616831
Kallmann Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Obesity, Breast hypo... ORPHA:478
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Cryptorchidism, Short stature, Hypoplasia of penis ORPHA:3409
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Delayed puberty, Decreased serum ... ORPHA:79239
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration ORPHA:122
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Large for gestational age, Tall stature, Overgrowth ORPHA:137634
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia OMIM:300887
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
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:611134
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Microphthalmia, Edema, Umbilical hernia ORPHA:2505
Senior-Loken Syndrome 9
Hypogonadism, Obesity, Chronic bronchitis OMIM:616629
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Microphthalmia OMIM:615877
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity OMIM:600151
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Seckel Syndrome 2
Short stature, Growth delay, Microphthalmia OMIM:606744
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Microphthalmia ORPHA:93267
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Intrauterine growth retardation, Pneumothorax, Maternal diabetes ORPHA:70588
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema ORPHA:2526
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Growth delay, Microphthalmia ORPHA:85284
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:1438
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Recurrent sinusitis, Absent inner and outer dynein arms, Recurrent respirator... OMIM:614935
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Absent outer dynein arms, Recurrent bronchitis, Bronchiectasis, Male infe... OMIM:244400
Carpenter Syndrome
Umbilical hernia, External genital hypoplasia, Obesity, Cryptorchidism, Abnormal reproductive sys... ORPHA:65759
Silver-Russell Syndrome
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Abnormal v... ORPHA:813
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microphthalmia, Syndromic 3
Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O... OMIM:206900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Mild short stature, Microphthalmia OMIM:614833
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia OMIM:136760
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Temtamy Syndrome
Microphthalmia ORPHA:1777
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... ORPHA:922
Allergic Bronchopulmonary Aspergillosis
Emphysema, Weight loss, Bronchiectasis ORPHA:1164
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Decreased response t... OMIM:610978
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Monosomy 18P
Short stature, Microphthalmia, Lymphedema ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida occulta, Microphthalmia OMIM:169550
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Type I diabetes mellitus, Pulmonary fibrosis, Cryptorchidism OMIM:620365
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia ORPHA:163966
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Oligohydramnios, Microphthalmia OMIM:619053
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Spondylo-Ocular Syndrome
Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp... ORPHA:85194
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... OMIM:265300
Noonan Syndrome 8
Failure to thrive, Large for gestational age, Pleural effusion, Cryptorchidism, Short stature OMIM:615355
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Osteoporosis-Pseudoglioma Syndrome
Short stature, Microphthalmia ORPHA:2788
Gracile Bone Dysplasia
Ascites, Aniridia, Short stature, Microphthalmia OMIM:602361
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Cerebrooculonasal Syndrome
Postnatal growth retardation, Encephalocele, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Meckel Syndrome
Oligohydramnios, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Ane... ORPHA:564
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia OMIM:617914
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Growth delay, Abnormality of the uterus, Umbilica... ORPHA:84
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Microphthalmia OMIM:214150
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Micropenis, Primary a... OMIM:176270
Adams-Oliver Syndrome 2
Oligohydramnios, Microphthalmia OMIM:614219
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Growth delay OMIM:613987
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Holoprosencephaly
Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia ORPHA:2162
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia ORPHA:3191
Hypophosphatasia
Failure to thrive in infancy, Short stature, Emphysema ORPHA:436
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Microphthalmia OMIM:618804
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... ORPHA:276608
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Oligohydramnios, Increased nuchal translucency, Microphthalmia OMIM:618494
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Weight loss, Pleural effusion, Atelectasis ORPHA:2902
Oculopalatocerebral Syndrome
Short stature, Microphthalmia OMIM:257910
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Wolfram Syndrome 1
Hypothyroidism, Testicular atrophy, Diabetes insipidus, Growth delay, Diabetes mellitus OMIM:222300
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Biconcave vertebral bodies, Nephrolithiasis, ...