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Gene: Aff4 MGI:2136171

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

16 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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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
Short stature, Cryptorchidism, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, ... OMIM:616368
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Asthma, Obesit... ORPHA:444077

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Intrauterine growth retardation OMIM:616570
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Truncal obesity, Hypogonadism, Intrauterine growth retardation, Fa... ORPHA:261483
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 17
Male infertility OMIM:617214
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obesit... OMIM:614962
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... ORPHA:66624
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature ORPHA:3000
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Short stature, External genital hypoplasi... OMIM:615993
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bi... OMIM:300219
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
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
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestatio... ORPHA:1916
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Nanophthalmos
Microphthalmia ORPHA:35612
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis... OMIM:300991
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short stature, Decreased fertility, Obesity, Hypogonadism, Abnormal testis morphology ORPHA:2233
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... ORPHA:2234
Morbid Obesity And Spermatogenic Failure
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility OMIM:615703
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Bronchiectasis, Decreased nasal nitric oxide,... OMIM:620197
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
Nanophthalmos 4
Microphthalmia OMIM:615972
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Gro... ORPHA:85282
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios ORPHA:2189
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... OMIM:613807
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Asthma, ... ORPHA:8
Congenital Myopathy 9A
Cryptorchidism, Short stature, Obesity, Death in infancy OMIM:618822
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... ORPHA:3378
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Obesity, Azoospermia, Abnormality of the hypothala... ORPHA:2183
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... OMIM:614874
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Recurrent respiratory infections, Respiratory insufficiency, Obesity OMIM:615633
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Idiopathic Bronchiectasis
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Productive cough, ... ORPHA:60033
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Wagr Syndrome
Short stature, Cryptorchidism, Obesity, Ambiguous genitalia, Displacement of the urethral meatus ORPHA:893
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyperinsulinemia, Obesity, Seconda... ORPHA:3085
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele ORPHA:1528
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Complete Androgen Insensitivity Syndrome
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... ORPHA:99429
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Mmep Syndrome
Microphthalmia ORPHA:3434
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Temple Syndrome
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... OMIM:616222
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... ORPHA:254531
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610125
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Hydrocele testis, Neonat... OMIM:620014
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Short stature, Obesity ORPHA:177910
Trisomy 5P
Hypoplasia of penis, Short stature, Obesity ORPHA:1742
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Laurence-Moon Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacem... ORPHA:2377
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Congenital Toxoplasmosis
Microphthalmia, Ascites, Intrauterine growth retardation ORPHA:858
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia ORPHA:1617
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele ORPHA:324416
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, External genital hypoplasia, Obesity OMIM:615981
Atkin-Flaitz Syndrome
Macroorchidism, Short stature, Obesity ORPHA:1193
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-induced behavior, Irr... ORPHA:3077
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchov... ORPHA:244
Hartsfield Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation ORPHA:2117
Trisomy 1Q
Increased nuchal translucency, Anophthalmia, Hydrops fetalis, Polyhydramnios ORPHA:261344
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:77298
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
48,Xxyy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Hypergonadotropic hypogonadism, Apnea, Cry... ORPHA:10
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Short stature, Cryptorchidism, Neonat... OMIM:613390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Anophthalmia, Postnatal growth retardation OMIM:206920
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Overweight, Cryptorchidism, Respiratory insufficiency due to mu... ORPHA:486815
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:66628
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Increased body weight ORPHA:589905
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation ORPHA:3412
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:48431
Laurence-Moon Syndrome
Micropenis, Small scrotum, Short stature, Obesity OMIM:245800
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Bone Marrow Failure Syndrome 5
Short stature, Growth delay, Hypogonadism, Pulmonary fibrosis, Testicular atrophy OMIM:618165
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Pleural effusion, Testi... OMIM:235200
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:614935
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:179494
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity ORPHA:254525
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... ORPHA:96184
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
48,Xxxy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptor... ORPHA:96263
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Severe short stature, Cryptorchidism, Respiratory insufficiency, Overgro... OMIM:224410
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Overweight, Pulmonary fibro... ORPHA:457240
Meier-Gorlin Syndrome 4
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda... OMIM:613804
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Impaired social interactions ORPHA:329249
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Mild short st... OMIM:614613
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios ORPHA:2547
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:603194
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Short stature, Cryptorchidism, Obesity, Intrauterine growth ret... ORPHA:412035
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age ORPHA:137634
Warburg Micro Syndrome 1
Microphthalmia, Short stature OMIM:600118
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cili... OMIM:244400
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:228390
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
17Q12 Microduplication Syndrome
Microphthalmia, Polyhydramnios ORPHA:261272
Pierpont Syndrome
Microphthalmia, Short stature OMIM:602342
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Respiratory distress OMIM:160900
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:290
Seckel Syndrome 2
Growth delay, Microphthalmia, Short stature OMIM:606744
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:610756
Pierpont Syndrome
Microphthalmia ORPHA:487825
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Microphthalmia, Syndromic 9
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Intrauterine growth ... OMIM:601186
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Um... ORPHA:65759
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... ORPHA:398069
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypogonadism ORPHA:3409
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... ORPHA:813
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Large for gestational age, Respiratory insufficiency due to muscle weakness, Cryptor... ORPHA:169189
Meckel Syndrome, Type 4
Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation OMIM:611134
Luscan-Lumish Syndrome
Short stature, Shyness, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth OMIM:616831
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Joubert Syndrome 37
Short stature, Cryptorchidism, Obesity, Micropenis, Decreased testicular size OMIM:619185
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia OMIM:614833
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Short stature, Edema ORPHA:2505
Noonan Syndrome 8
Short stature, Large for gestational age, Cryptorchidism, Pleural effusion, Failure to thrive OMIM:615355
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Severe short stature, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Umbilical hernia, Anophthalmia ORPHA:1101
Bresek Syndrome
Growth delay, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation ORPHA:85284
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1438
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia OMIM:605231
Bardet-Biedl Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Postnatal growth retard... OMIM:206900
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight ORPHA:890
Frontonasal Dysplasia 1
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele OMIM:136760
Bardet-Biedl Syndrome 3
External genital hypoplasia, Obesity OMIM:600151
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... OMIM:612387
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Senior-Loken Syndrome 9
Hypogonadism, Obesity, Chronic bronchitis OMIM:616629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Monosomy 18P
Microphthalmia, Short stature, Lymphedema ORPHA:1598
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... OMIM:620233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... OMIM:600955
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia ORPHA:90321
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Short stature OMIM:169550
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short... ORPHA:85194
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Oligohydramnios OMIM:619053
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature ORPHA:2788
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... OMIM:176270
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Ascites, Short stature OMIM:602361
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Cerebrooculonasal Syndrome
Encephalocele, Postnatal growth retardation, Anophthalmia, Optic nerve hypoplasia OMIM:605627
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... ORPHA:564
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:617914
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Dehydration OMIM:214150
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism, Emphysema, Pulmonary fibrosis OMIM:620365
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... OMIM:265300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Lymphedema OMIM:152950
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Adams-Oliver Syndrome 2
Microphthalmia, Oligohydramnios OMIM:614219
Holoprosencephaly
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia ORPHA:2162
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Macrocephaly/Autism Syndrome
Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Overgrowth OMIM:605309
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Familial Exudative Vitreoretinopathy
Microphthalmia, Macular edema, Lymphedema ORPHA:891
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy OMIM:222300
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Sandestig-Stefanova Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:618804
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Pneumonia, Bronchitis, Smal... ORPHA:125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Increased nuchal translucency, Oligohydramnios OMIM:618494
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... ORPHA:276608
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:494344
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Decreased nasal nitric oxide, Cough OMIM:619607
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Polyhydramnios OMIM:616920
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1915
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Wagro Syndrome
Decreased testicular size, Hypoplastic female external genitalia, Impaired social interactions, O... OMIM:612469
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Short stature ORPHA:264200
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss, Grow... ORPHA:251071
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Short stature ORPHA:1791
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Short-Rib Thoracic Dysplasia 12
Atelectasis, Anencephaly, Respiratory insufficiency, Hypoplastic nipples, Pulmonary hypoplasia, N... OMIM:269860
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit... ORPHA:100924
Fanconi Anemia, Complementation Group I
Microphthalmia, Short stature, Optic nerve hypoplasia, Intrauterine growth retardation OMIM:609053
Distal Triplication 15Q
Abnormal external genitalia, Large for gestational age, Birth length greater than 97th percentile... ORPHA:314588
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia ORPHA:370959
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight OMIM:300860
Microgastria-Limb Reduction Defect Syndrome
Growth delay, Microphthalmia, Anophthalmia ORPHA:2538
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Microphthalmia, Short stature OMIM:243310
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short stature, Optic nerve hypoplasia OMIM:610829
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature OMIM:617883
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation ORPHA:2728
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Charge Syndrome
Anophthalmia, Short stature, Polyhydramnios, Postnatal growth retardation, Delayed puberty, Micro... ORPHA:138
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Growth delay OMIM:120200
Denys-Drash Syndrome
Neonatal respiratory distress, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate... OMIM:194080
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... OMIM:153400
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Ulnar-Mammary Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia,... ORPHA:3138
Warburg Micro Syndrome 4
Severe postnatal growth retardation, Microphthalmia, Short stature OMIM:615663
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... ORPHA:538
Galloway-Mowat Syndrome 3
Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation OMIM:617729
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Severe short stature, Small for gestational age, Decreased resp... OMIM:616835
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Joubert Syndrome 14
Encephalocele, Microphthalmia, Meningocele, Growth delay OMIM:614424
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Obesity, Primary amenorrhea, Bilateral breast hypoplasia, Severe postnatal growth ... ORPHA:319675
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:251230
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia OMIM:617244
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Bilateral microphthalmos, Short stature ORPHA:369891
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia OMIM:302960
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Intrauterine growth retardation, O... ORPHA:99776
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:248700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation OMIM:241410
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature OMIM:617306
Microphthalmia, Syndromic 2
Anophthalmia, Short stature, Phthisis bulbi, Umbilical hernia, Microphthalmia OMIM:300166
Micro Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:2510
Temtamy Syndrome
Microphthalmia OMIM:218340
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Dysmenorrhea, Irregular menstruation, Increased body weight, Polycystic ovaries, G... ORPHA:264580
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Fanconi Anemia, Complementation Group F
Microphthalmia, Short stature, Polyhydramnios, Intrauterine growth retardation OMIM:603467
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Bilateral microphthalmos, Short stature OMIM:610758
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Microphthalmia With Linear Skin Defects Syndrome
Growth delay, Microphthalmia, Severe short stature, Anophthalmia ORPHA:2556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Moebius Syndrome
Microphthalmia OMIM:157900
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Cryptorchidism, Hypoplastic la... OMIM:224690
Chops Syndrome
Short stature, Cryptorchidism, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, ... OMIM:616368
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Short stature, Increased body weight OMIM:182290
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Dysmenorrhea, Postnatal growth retardation, Irregular menstruation, Increased body... ORPHA:79240
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Ascites ORPHA:974
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Farber Disease
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... ORPHA:333
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia ... OMIM:613177
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Meckel Syndrome 14
Microphthalmia, Increased nuchal translucency, Occipital encephalocele, Oligohydramnios OMIM:619879
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle ORPHA:905
Focal Dermal Hypoplasia
Anophthalmia, Short stature, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ... OMIM:305600
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Asthma, Obesity, Male hypogonadism, Micropenis OMIM:619471
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Polyhydramnios ORPHA:3301
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:614222
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia, Obesity OMIM:615989
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Sotos Syndrome
Cryptorchidism, Overgrowth, Increased body weight, Tall stature OMIM:117550
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia OMIM:619135
Frontorhiny
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele ORPHA:391474
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia OMIM:234050
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Ellis Van Creveld Syndrome
Failure to thrive, Hypospadias, Epispadias, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Neon... ORPHA:289
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal ci... ORPHA:2298
Kapur-Toriello Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:244300
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Crypt... OMIM:227650
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Trisomy 18
Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar... ORPHA:3380
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Microphthalmia, Short stature ORPHA:35173
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Charge Syndrome
Anophthalmia, Polyhydramnios, Postnatal growth retardation, Unilateral microphthalmos, Umbilical ... OMIM:214800
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Short stature, Spina bifida, Cryptorchidism, At... ORPHA:567
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature OMIM:618571
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary a... ORPHA:258
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature OMIM:612530
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Galloway-Mowat Syndrome 1
Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar... OMIM:251300
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microphthalmia, Anencephaly, Short stature OMIM:619148
Papillorenal Syndrome
Microphthalmia, Short stature, Edema OMIM:120330
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation, Oligohydramnios ORPHA:364577
Microphthalmia With Limb Anomalies
Microphthalmia, Short stature, True anophthalmia ORPHA:1106
Warburg Micro Syndrome 2
Postnatal growth retardation, Microphthalmia OMIM:614225
Refsum Disease
Microphthalmia ORPHA:773
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... OMIM:609049
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:2714
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon... ORPHA:2839
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Cryptorchidism, Disproportionate tall stature, Abnormality of the Ley... ORPHA:3063
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Cystic Fibrosis
Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... OMIM:219700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Mosaic Variegated Aneuploidy Syndrome
Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Microphthalmia, Ascit... ORPHA:1052
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Cough ORPHA:2314
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad... OMIM:193300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Cohen Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:193
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios ORPHA:2166
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Branchiooculofacial Syndrome
Anophthalmia, Postnatal growth retardation, Branchial anomaly, Microphthalmia, Intrauterine growt... OMIM:113620
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Short stature, Cryptorch... ORPHA:534
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Short stature OMIM:610651
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Mosaic Trisomy 1
Microphthalmia, Increased nuchal translucency, Polyhydramnios ORPHA:1692
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Small for gestational age, Short stature, Tachypnea, Abnormal pulmonary interstiti... OMIM:613658
Martsolf Syndrome 1
Microphthalmia, Short stature OMIM:212720
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Recurrent respiratory infections, Small scrotum, Diabetes mellitus, External genital hypoplasia, ... OMIM:614231
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Atelectasis... OMIM:188400
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Cat Eye Syndrome
Microphthalmia, Umbilical hernia, Short stature OMIM:115470
Curry-Jones Syndrome
Occipital meningocele, Microphthalmia, Lipomyelomeningocele OMIM:601707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:614643
1Q21.1 Microdeletion Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia OMIM:253800
Microphthalmia, Lenz Type
Microphthalmia, Short stature ORPHA:568
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Short stature OMIM:601675
Pseudotrisomy 13 Syndrome
Encephalocele, Microphthalmia OMIM:264480
Joubert Syndrome 2
Encephalocele, Microphthalmia OMIM:608091
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Microphthalmia OMIM:614230
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... ORPHA:536467
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Asthma, Obesity, Growth delay, Type I diabetes m... OMIM:619269
Cousin Syndrome
Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia OMIM:260660
Steinert Myotonic Dystrophy
Endometrial carcinoma, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hyp... ORPHA:273
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida ORPHA:2092
Fanconi Anemia, Complementation Group C
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:227645
Mycophenolate Mofetil Embryopathy
Microphthalmia, Hydrops fetalis ORPHA:268249
Fryns Syndrome
Microphthalmia, Polyhydramnios ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia OMIM:236670
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia OMIM:607323
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Dubowitz Syndrome
Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine... OMIM:223370
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm... OMIM:256520
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature ORPHA:464
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis ORPHA:319213
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Abnormal lung lobation, Gonadotropi... ORPHA:672
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Unilateral microphthalmos OMIM:618874
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia OMIM:601812
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia ORPHA:77301
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature OMIM:600901
Sarcoidosis, Susceptibility To, 1
Cough, Dyspnea, Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmonary interstit... OMIM:181000
Fanconi Anemia, Complementation Group L
Growth delay, Microphthalmia, Intrauterine growth retardation OMIM:614083
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature, Spina bifida OMIM:234100
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Severe short stature, Short stature OMIM:127000
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microphthalmia, Rhizomelia OMIM:616300
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Intrauterine growth retardation OMIM:147791
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Momo Syndrome
Bilateral microphthalmos, Short stature ORPHA:2563
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia ORPHA:2612
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Pallister-Hall Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:146510
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Anencephaly, Microphthalmia, Intrauterine growth retarda... OMIM:249000
2Q31.1 Microdeletion Syndrome
Microphthalmia, Short stature ORPHA:251014
Fanconi Anemia
Short stature, Spina bifida, Aplasia/Hypoplasia of the iris, Growth delay, Umbilical hernia, Micr... ORPHA:84
Teebi-Shaltout Syndrome
Microphthalmia, Short stature OMIM:272950
Fraser Syndrome 2
Microphthalmia, Oligohydramnios OMIM:617666
Roberts Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios ORPHA:3103
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature OMIM:201180
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Short stature OMIM:308300
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the cervical spine, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, ... ORPHA:353281
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Pulmonary edema ORPHA:137675
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Short stature, Polyhydramnios, Microphthalmia, Intrauterine growth retardation OMIM:620186
Basal Cell Nevus Syndrome 1
Microphthalmia, Spina bifida OMIM:109400
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... ORPHA:93325
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation, Oligohydramnios OMIM:608670
Chand Syndrome
Atelectasis, Imperforate hymen ORPHA:1401
Myhre Syndrome
Short stature, Pericardial effusion, Birth length less than 3rd percentile, Microphthalmia, Intra... OMIM:139210
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Short stature, Optic nerve hypoplasia, Spina bifida ORPHA:508498
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia ORPHA:959
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Zygomycosis
Diabetes mellitus, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, C... ORPHA:73263
Chromosome 13Q14 Deletion Syndrome
Growth delay, Microphthalmia, Umbilical hernia OMIM:613884
Trichothiodystrophy
Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation ORPHA:33364
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Severe postnatal growth retardation, Intrauterine growth retardation OMIM:620005
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra... OMIM:133540
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Short stature, Postnatal growth reta... OMIM:163950
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616975
Atelis Syndrome 2
Microphthalmia OMIM:620185
Treacher-Collins Syndrome
Encephalocele, Microphthalmia, Branchial fistula ORPHA:861
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Spina bifida OMIM:304050
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Isolated Arrhinia
Microphthalmia ORPHA:1134
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Short stature OMIM:268400
Fanconi Anemia, Complementation Group D2
Microphthalmia, Short stature OMIM:227646
Fontaine Progeroid Syndrome
Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation OMIM:612289
Hallermann-Streiff Syndrome
Microphthalmia, Proportionate short stature ORPHA:2108
Bartsocas-Papas Syndrome 1
Microphthalmia, Intrauterine growth retardation OMIM:263650
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Short stature OMIM:309801
Yunis-Varon Syndrome
Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat... ORPHA:3472
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation OMIM:236680
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Holoprosencephaly 7
Occipital meningocele, Microphthalmia, Bilateral microphthalmos OMIM:610828
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Cough OMIM:306400
Aicardi Syndrome
Microphthalmia, Delayed puberty ORPHA:50
Hellp Syndrome
Pleural effusion, Increased body weight, Pulmonary edema ORPHA:244242
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Short stature OMIM:259770
Fryns Syndrome
Microphthalmia, Chylothorax, Polyhydramnios OMIM:229850
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth... ORPHA:2044
Floating-Harbor Syndrome
Hypospadias, Short stature, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Umbilical her... OMIM:136140
Mend Syndrome
Microphthalmia, Short stature ORPHA:401973
Steinfeld Syndrome
Microphthalmia OMIM:184705
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Asthma, Obesit... ORPHA:444077
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Weight loss, Gr... OMIM:219800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo... ORPHA:468631
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia ORPHA:306542
Microphthalmia, Syndromic 1
Growth delay, Microphthalmia, Anophthalmia OMIM:309800
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Cockayne Syndrome Type 3
Microphthalmia, Mild postnatal growth retardation ORPHA:90324
Relapsing Polychondritis
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough ORPHA:728
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the cervical spine, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the cervical spine, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, ... ORPHA:353277
Cockayne Syndrome
Severe short stature, Postnatal growth retardation, Growth delay, Delayed puberty, Microphthalmia ORPHA:191
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Degcags Syndrome
Microphthalmia, Polyhydramnios, Intrauterine growth retardation OMIM:619488
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Short stature OMIM:616734
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia OMIM:619539
Monosomy 9P
Microphthalmia ORPHA:261112
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Adams-Oliver Syndrome 1
Encephalocele, Microphthalmia OMIM:100300
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, Intrauterine grow... OMIM:613406
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Optic nerve hypoplasia, B... ORPHA:508488
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Renpenning Syndrome 1
Microphthalmia, Short stature OMIM:309500
Holoprosencephaly 1
Microphthalmia, Short stature OMIM:236100
Lowe Oculocerebrorenal Syndrome
Postnatal growth retardation, Microphthalmia, Short stature OMIM:309000
Tetraamelia Syndrome 1
Microphthalmia OMIM:273395
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, Severe intrauterine growth r... OMIM:268300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens, Delayed puberty ORPHA:649
Mowat-Wilson Syndrome
Microphthalmia, Short stature OMIM:235730
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Townes-Brocks Syndrome
Microphthalmia, Short stature, Delayed puberty ORPHA:857
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Growth delay, Microphthalmia, Short stature ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Short stature ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Short stature ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aff4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aff4.

No publications found that use IMPC mice or data for Aff4.

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MGI Allele Allele Type Produced
Aff4em1(IMPC)Mbp Exon Deletion Mice

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