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Gene: Katnb1 MGI:1921437

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Gene Summary

Name:
katanin p80 (WD40-containing) subunit B 1
Synonyms:
KAT,  2410003J24Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Katnb1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 50% (1 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote Not available
Footplate N/A homozygote Not available
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote Not available
Handplate N/A homozygote Not available
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Not available
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

View images
Adult LacZ

LacZ Images Wholemount

18 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Katnb1 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 Katnb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Rocker bottom foot, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Tapered finger, Partial agenesis of the corpus callosum, Simplified ... OMIM:616212

The table below shows human diseases predicted to be associated to Katnb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 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 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
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, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
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
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
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
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
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 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
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
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
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
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
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
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
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
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
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
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
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, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 17
Male infertility OMIM:617214
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
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
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly OMIM:611638
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Gray matter heterotopia, Microphthalmia, Age... OMIM:164180
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal migration, Holop... ORPHA:945
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia, Neonatal death OMIM:615524
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Triploidy
Hepatomegaly, Finger syndactyly, Cryptorchidism, Hydrocephalus, Meningocele, Abnormality of the p... ORPHA:3376
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Holoprosencephaly, Microph... ORPHA:77298
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hartsfield Syndrome
Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthal... ORPHA:2117
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Hydrocephalus, Patent ductus arteriosus, Abnormality of neuronal migra... ORPHA:93274
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Talipes equinovarus, Microphthalmia, Agenesis of corpus callosum, Intrauterin... OMIM:616570
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Tapered finger OMIM:619033
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Partington Syndrome
Macroorchidism ORPHA:94083
Hydrolethalus
Anophthalmia, Micromelia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... ORPHA:2189
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Gombo Syndrome
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Walker-Warburg Syndrome
Anophthalmia, Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Abnormality of neuronal ... ORPHA:899
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Agenesis of corpus callosu... OMIM:615433
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly, Polysplenia OMIM:614226
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
Ring Chromosome 21 Syndrome
Syndactyly, Small hand, Azoospermia, Holoprosencephaly, Clinodactyly ORPHA:1445
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Lissencephaly, Microphthalmia, Agene... ORPHA:1528
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Holoprosencephaly, Abnormal metacarp... ORPHA:1590
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, T... OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Lissencephaly, Holoprosencephaly, Microphthalmia, Pachygyri... OMIM:253800
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Distal Monosomy 7Q36
Clinodactyly of the 5th finger, Cryptorchidism, Holoprosencephaly, Symphalangism affecting the ph... ORPHA:1636
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, 2-3 toe syndactyly, Pos... OMIM:264480
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Monosomy 18P
Microphthalmia, Holoprosencephaly, Brachydactyly ORPHA:1598
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Adducted thumb ORPHA:2182
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men... ORPHA:1908
Trisomy 1Q
Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Patent duc... ORPHA:261344
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Holoprosencephaly, Hydranencephaly, Intrauterine growth retardation, Add... ORPHA:2570
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Hydrocephalus, Jaundice, Anemia, Microphthalmia, Thr... ORPHA:858
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Trisomy 13
Anophthalmia, Cryptorchidism, Patent ductus arteriosus, Postaxial hand polydactyly, Aplasia/Hypop... ORPHA:3378
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Microphthalmia, Agenesis of corpus ... OMIM:218670
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly... ORPHA:139471
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Partial agenesis of the corpus callosum, Subcortical band heterotopia, Focal poly... OMIM:615771
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cryptorchidism, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Holoprosencepha... OMIM:612530
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle ... OMIM:615297
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 ... OMIM:206920
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus, Type II lissencephaly ORPHA:324416
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Holoprosencephaly, Anterior encephalocele OMIM:601357
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Holoprosencephaly ORPHA:250999
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Simplified gyral pattern, Lissencephaly, Microphthalmia, Pachygyria, Agenesis of c... OMIM:613153
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Type II lissencephaly OMIM:614830
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:147250
Warburg Micro Syndrome 1
Overlapping toe, Cryptorchidism, Perisylvian polymicrogyria, Microphthalmia, Agenesis of corpus c... OMIM:600118
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Focal polym... OMIM:612651
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Agenesis of corpus callosum OMIM:274270
Mmep Syndrome
Microphthalmia, Cryptorchidism, Split foot, Triphalangeal thumb ORPHA:3434
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... OMIM:146510
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Cryptorchidism, Abnormality of neuronal migration, Talipes equinovarus, ... ORPHA:261236
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Bowing of the legs, Splenomegaly, Patent ductus arteriosus, Hydrocephalus, Anenceph... OMIM:269860
Meckel Syndrome 14
Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h... OMIM:619879
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Lissencephaly 8
Occipital encephalocele, Talipes equinovarus, Microphthalmia, Polymicrogyria, Agyria, Type II lis... OMIM:617255
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyl... ORPHA:93323
Jacobsen Syndrome
Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Macular hypoplasia, Holoprosencep... OMIM:147791
Meckel Syndrome
Encephalocele, Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Asp... ORPHA:564
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... ORPHA:2470
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
49,Xxxxy Syndrome
Coxa valga, Cryptorchidism, Azoospermia, Radioulnar synostosis, Holoprosencephaly, Talipes equino... ORPHA:96264
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Leukemia, Polymicrogyria OMIM:602501
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Holoprosencephaly
Encephalocele, Anophthalmia, Abnormality of the spleen, Hydrocephalus, Cryptorchidism, Abnormalit... ORPHA:2162
Cockayne Syndrome Type 2
Cryptorchidism, Intrauterine growth retardation, Anophthalmia, Hepatomegaly ORPHA:90322
Pierpont Syndrome
Abnormal cortical gyration, Cryptorchidism, Short toe, Short finger, Prominent fingertip pads, Mi... ORPHA:487825
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Bilateral micro... OMIM:610828
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Holoprosencephaly OMIM:202650
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Aplasia/Hypoplasia of the iris, A... ORPHA:290
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Holoprosencephaly 9
Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, ... OMIM:610829
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Nanophthalmos
Microphthalmia ORPHA:35612
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, Periventricular heterotop... ORPHA:468631
Trisomy 18
Camptodactyly of finger, Spina bifida, Cryptorchidism, Postaxial hand polydactyly, Anencephaly, D... ORPHA:3380
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Lambotte Syndrome
Preaxial foot polydactyly, Intrauterine growth retardation, Semilobar holoprosencephaly OMIM:245552
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Hypoplasia of the... ORPHA:3412
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Anterior basal encephalocele, Radial deviation of finger, Camptodacty... OMIM:136760
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Semilobar holoprosencephaly... ORPHA:556955
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Micr... ORPHA:2166
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Neonatal death... ORPHA:85284
Cofs Syndrome
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation ORPHA:1466
Pierpont Syndrome
Cryptorchidism, Short toe, Short foot, Short finger, Short palm, Prominent fingertip pads, Microp... OMIM:602342
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Polymicrogyria, Type II lissencephaly OMIM:615181
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Patent ductus arteriosus, Bilateral microphthalmos, Multilobulated ... OMIM:601186
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Baraitser-Winter Syndrome 2
Microphthalmia, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Lissencephaly, Microphthalmia, Agenesis of corpus callosum... OMIM:615249
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Absent distal phalanges, Short middle phalanx of fin... OMIM:614219
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Gray matter heterotopia, Micropht... ORPHA:370959
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, Partial agenesis of the corpus callosum, 2-3 toe cutaneo... OMIM:270400
Holoprosencephaly-Craniosynostosis Syndrome
Coxa valga, Holoprosencephaly, Clinodactyly of the 5th finger, Short distal phalanx of finger, Br... ORPHA:2163
Microform Holoprosencephaly
Intrauterine growth retardation, Agenesis of corpus callosum, Holoprosencephaly ORPHA:280200
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Dysplastic corpus callosum, Lissencephaly, Microphthalmia, Polymicrogyria... OMIM:614833
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Microphthalmia, Abnormal metap... ORPHA:93267
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Cryptorchidism, Umbilical hernia, Holoprosencephaly, Clinodactyly of the 5th fin... OMIM:613884
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Radial club hand, Holoprosencephaly ORPHA:2165
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Abnormal morphology of the radius, Anophthalmia, Abnormal cortical gyration, Abnorm... ORPHA:2538
Congenital Varicella Syndrome
Microphthalmia, Micromelia, Intrauterine growth retardation ORPHA:291
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Fanconi Anemia, Complementation Group D2
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Hydrocephalus, Patent ductus arteriosu... OMIM:227646
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism, Neonatal death, Hepatomegaly OMIM:613730
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Absent gallbladder, Hypoplasia of the ulna, Abnormality of the h... ORPHA:3186
Halperin-Birk Syndrome
Colpocephaly, Talipes equinovarus, Umbilical hernia, Intrauterine growth retardation, Agenesis of... OMIM:618651
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Partia... OMIM:619895
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Anophthalmia, Cryptorchidism, Anemia ORPHA:90321
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Cryptorchidism, Patent ductus arterio... ORPHA:818
Baraitser-Winter Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Duplication of phalanx of hallux, Lissencephaly, Microp... OMIM:243310
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Partial agenesis of the c... OMIM:614643
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Cryptorchidism, Microphthalmia, Agenesis of corpus callosum, Intrauterine growth r... ORPHA:228390
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... OMIM:618500
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Mic... OMIM:618805
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Hypoplasia of the ra... OMIM:184705
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Coxa valga, Cryptorchidism, Second metatarsal posteriorly placed, Camptodacty... OMIM:214150
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Microphthalmia, Agenesis of corpus callosum OMIM:300887
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Patent ductus arterios... OMIM:206900
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Dysplastic corpus callosum, Cryptorchidism, Gray matter heterotopia, Colpocephaly, Ho... OMIM:618820
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... OMIM:611134
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Short distal phalanx of finger, Semilobar holoprosencephaly OMIM:601370
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Cryptorchidism, Short 4th m... ORPHA:264200
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hydrocephalus, Myelomeningocele, Ane... ORPHA:63259
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Pachygyria, Simplified gyral pattern OMIM:251270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Hydrocephalus OMIM:601794
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus OMIM:613155
Microphthalmia, Syndromic 5
Microphthalmia, Cryptorchidism, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly OMIM:610023
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencephaly, Radioulnar synostosis, Short ... OMIM:614701
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly ORPHA:2356
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Gray matter heterotopia, Camptodactyly OMIM:619694
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Holoprosencephaly, Clinodactyly of the 5th finger, Microphthalmia, ... ORPHA:1052
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Bi... OMIM:603194
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Lateral ventricle dilatation, Broad hallux, Periventricular heterotopia OMIM:614105
Fanconi Anemia, Complementation Group E
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cel... OMIM:600901
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation ORPHA:48431
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Portal hypertension, Congenital hepatic fibrosis... ORPHA:974
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Periventricular heterotopia, Cryptorchidism, Partial agene... OMIM:615948
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:195
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Cryptorchidism, Patent ductus arteriosus, Abnormal tibia morph... ORPHA:138
Fanconi Anemia, Complementation Group A
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cel... OMIM:227650
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi... ORPHA:1587
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Lateral ventricle dilatation, Umbilical hernia, Jo... OMIM:618914
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Hydrocephalus, Postax... OMIM:605627
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism, Split foot OMIM:601349
Fanconi Anemia, Complementation Group C
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Prolonged G2 phase of cel... OMIM:227645
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta... OMIM:611561
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus, Metaphysea... ORPHA:163966
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Camptodactyly of finger, Cryptorchidism, Ulnar deviation of finger, Talipes equinov... ORPHA:1101
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos ORPHA:77299
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Temtamy Syndrome
Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly ORPHA:1777
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the radius... OMIM:609053
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Simplified gyral pattern, Microlissencephaly, Microphthalmia, Agenesis of... OMIM:617914
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Moebius Syndrome
Syndactyly, Brachydactyly, Clinodactyly, Split hand, Talipes equinovarus, Lower limb undergrowth,... OMIM:157900
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Patent ductus arteriosus... OMIM:301043
Focal Dermal Hypoplasia
Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifida occulta, Sho... OMIM:305600
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia, Polymicrogyria, Microcytic anemia OMIM:612379
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Joubert Syndrome 22
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra... OMIM:615665
Joubert Syndrome 37
Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Microphthalmia, Decreased testicular size OMIM:619185
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus, Microphthalmia, Pachygyria, Polymicrogyria ORPHA:2328
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Sh... ORPHA:250989
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi... OMIM:251230
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Abnormal cortical gyration, Cryptor... OMIM:219000
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Overlapping toe, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Short t... OMIM:619148
Temtamy Syndrome
Short 2nd toe, Talipes equinovarus, Microphthalmia, Agenesis of corpus callosum, Brachydactyly OMIM:218340
Hartsfield Syndrome
Syndactyly, Alobar holoprosencephaly, Cryptorchidism, Lobar holoprosencephaly, Ectrodactyly, Agen... OMIM:615465
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microtia-Anotia
Holoprosencephaly OMIM:600674
Microtia
Holoprosencephaly ORPHA:83463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Cry... OMIM:236670
Marden-Walker Syndrome
Arachnodactyly, Cryptorchidism, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microp... OMIM:248700
Mosaic Trisomy 1
Absent distal interphalangeal creases, Hepatic agenesis, Long toe, Toe syndactyly, Arachnodactyly... ORPHA:1692
Kapur-Toriello Syndrome
Overlapping fingers, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Short thu... OMIM:244300
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping fingers, Overlapping toe, Cryptorchidism, Prominent fingertip pads, Microphthalmia, P... OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Buphthalmos, Microphthalmia, Pachygyria, Agenesis of corpus callosu... OMIM:613150
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Patent ductus arteriosus, Camptodactyly of finger, Symphalangism affecting the ph... ORPHA:2547
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Patent ductus arteriosus OMIM:618652
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of corpus callosum OMIM:614402
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Curry-Jones Syndrome
Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc... OMIM:601707
Fanconi Anemia, Complementation Group R
Absent thumb, Hydrocephalus, Anemia, Microphthalmia, Radial dysplasia OMIM:617244
Pallister-Hall Syndrome
Holoprosencephaly, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Patent ductus arteriosus... ORPHA:672
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... ORPHA:1553
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Patent ductus arteriosus, Holoprosencephaly, Microphthalmia ORPHA:141099
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Metaphyseal widening, Abnormal lower limb bone morphology, Abnormal femoral neck/... ORPHA:2788
Joubert Syndrome 21
Encephalocele, Splenomegaly, Occipital encephalocele, Anophthalmia OMIM:615636
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly, Thrombocytopenia OMIM:619981
Charge Syndrome
Hypoplasia of the ulna, Anophthalmia, Absent radius, Cryptorchidism, Patent ductus arteriosus, Sh... OMIM:214800
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Hydrocephalus, Microphthalmia, Abnormal testis morphology, Agenesis of corpus callosum ORPHA:2556
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly OMIM:615877
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Microphthalmia, Syndromic 2
Anophthalmia, Broad hallux, Sandal gap, Cryptorchidism, Patent ductus arteriosus, Phthisis bulbi,... OMIM:300166
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Flared metaphysis, Aniridia, Microphthalmia, Hypoplastic spleen, Brachyd... OMIM:602361
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum ORPHA:3301
Mosaic Trisomy 9
Rocker bottom foot, Spina bifida, Micromelia, Asplenia, Cryptorchidism, Patent ductus arteriosus,... ORPHA:99776
Holoprosencephaly 2
Alobar holoprosencephaly, Holoprosencephaly, Microphthalmia, Agenesis of corpus callosum, Semilob... OMIM:157170
Ring Chromosome 7 Syndrome
Small hand, Genu valgum, Hydrocele testis, Short 5th finger, Holoprosencephaly, Severe intrauteri... ORPHA:1449
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation, Sandal gap, Tapered finger ORPHA:1438
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality, Synostosis of carpal bones ORPHA:3191
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Microphthalmia, Agenesis of corpus callosum OMIM:613001
Isolated Exencephaly
Agenesis of corpus callosum, Holoprosencephaly ORPHA:563612
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Neutropenia, Microphthalmia, Lymphopenia, Intrauterine growth retardation OMIM:616395
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:2250
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Microphthalmia OMIM:614424
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pach... ORPHA:3310
Fanconi Anemia, Complementation Group F
Absent thumb, Cryptorchidism, Patent ductus arteriosus, Short thumb, Hypoplasia of the radius, 2-... OMIM:603467
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cryptorchidism ORPHA:363741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Buphthalmos, Microphthalmia, Polymicrogyria, Agyria OMIM:616538
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Hydrocephalus, Preaxial polydactyly, Stillbirth, Microp... OMIM:243605
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Abnormal digit morphology, Polydactyly, Holoprosen... ORPHA:95494
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Simplif... OMIM:610758
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Cryptorchidism, Intrauterine growth retardation ORPHA:494344
Fanconi Anemia, Complementation Group S
Microphthalmia, Clinodactyly, Proximal placement of thumb, Anemia OMIM:617883
Warburg Micro Syndrome 4
Microphthalmia, Cryptorchidism, Perisylvian polymicrogyria, Decreased testicular size OMIM:615663
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation OMIM:610756
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Cryptorchidism, Ulnar bowing, Shortening of all distal phalanges of the f... OMIM:619135
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Intrauterine growth retardation OMIM:618804
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers, Splenic rupture, Decreased testicular size ORPHA:335
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dist... ORPHA:404440
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Wide proximal femor... ORPHA:163649
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Simplified gyral pattern OMIM:152950
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia, Polymicrogyria, Decreased testicular size OMIM:614222
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... OMIM:620005
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Cryptorchidism, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, Clinodactyly ORPHA:369891
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Micro Syndrome
Cryptorchidism, Lissencephaly, Microphthalmia, Pachygyria, Intrauterine growth retardation ORPHA:2510
Meckel Syndrome, Type 1
Occipital encephalocele, Asplenia, Agenesis of corpus callosum, Accessory spleen, Syndactyly, Mal... OMIM:249000
Holoprosencephaly 1
Microphthalmia, Ethmocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:236100
Townes-Brocks Syndrome 1
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Cryptorchidism, ... OMIM:107480
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo... OMIM:607597
Fanconi Anemia
Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thumb, Clinodactyl... ORPHA:84
Fraser Syndrome
Encephalocele, Finger syndactyly, Anophthalmia, Toe syndactyly, Cryptorchidism, Myelomeningocele,... ORPHA:2052
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... ORPHA:2839
Martsolf Syndrome 1
Short metacarpal, Metatarsus adductus, Cryptorchidism, Short toe, Osteopathia striata, Broad fing... OMIM:212720
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Neu-Laxova Syndrome 1
Micromelia, Calcaneovalgus deformity, Neonatal death, Agenesis of corpus callosum, Finger syndact... OMIM:256520
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia ORPHA:1791
Holoprosencephaly 3
Holoprosencephaly OMIM:142945
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Micro... OMIM:241410
17Q12 Microduplication Syndrome
Microphthalmia, Toe syndactyly, Finger syndactyly ORPHA:261272
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping fingers, Overlapping toe, Cholelithiasis, Deviation of the 2nd fin... ORPHA:464738
Warburg Micro Syndrome 2
Overlapping toe, Cryptorchidism, Microphthalmia, Polymicrogyria, Clinodactyly of the 4th toe, Cli... OMIM:614225
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia... ORPHA:228123
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Microphthalmia, Spina bifida occulta OMIM:169550
Cousin Syndrome
Rhizomelia, Dislocation of the femoral head, Hydrocephalus, Humeroradial synostosis, 4-5 toe synd... OMIM:260660
Oculofaciocardiodental Syndrome
Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contra... ORPHA:2712
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arteriosus, Short... OMIM:616300
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Bartsocas-Papas Syndrome 2
Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand OMIM:619339
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microphthalmia OMIM:606744
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Broad hallux, 1-2 toe syndactyly, Tapered finger, Small hand, Short foot, Camptodactyly, Intraute... OMIM:301044
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal cortical gyration, Preaxial hand polydactyly, Postaxial hand polydacty... OMIM:236680
Frontonasal Dysplasia 2
Encephalocele, Bilateral cryptorchidism, Microphthalmia, Intrauterine growth retardation OMIM:613451
Aicardi Syndrome
Spina bifida, Proximal placement of thumb, Partial agenesis of the corpus callosum, Gray matter h... OMIM:304050
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Cryptorchidism, Slender toe, Genu ... ORPHA:193
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Agenesis of corpus callosum, 2-3 toe syndactyly OMIM:616449
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Frontorhiny
Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum... ORPHA:391474
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
Refsum Disease
Microphthalmia, Splenomegaly, Short metacarpal, Hammertoe ORPHA:773
Focal Dermal Hypoplasia
Acute hepatic failure, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, ... ORPHA:2092
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Cryptorchidism, Umbilical hernia ORPHA:2505
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Partial agenesis of the corpus callosum OMIM:234050
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g... OMIM:607323
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Joubert Syndrome 2
Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia OMIM:608091
Stevenson-Carey Syndrome
Microphthalmia, Camptodactyly OMIM:611961
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly OMIM:619053
Galloway-Mowat Syndrome 3
Arachnodactyly, Simplified gyral pattern, Lissencephaly, Camptodactyly, Microphthalmia, Pachygyri... OMIM:617729
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Cryptorchidism, Intrauterine growth retardation ORPHA:2728
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Cryptorchidism, Split hand, Split foot, Hand polydactyly, Semilobar holoprosencep... OMIM:129900
Fryns Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Microphthalmia, Agenesis of corpus callosum, Shor... ORPHA:2059
Heart And Brain Malformation Syndrome
Hand clenching, Microphthalmia, Camptodactyly of finger OMIM:616920
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Foot polydactyly, Short palm, Microphthalmia, Agenesis of corpus callosum ORPHA:268249
Branchiooculofacial Syndrome
Anophthalmia, Proximal placement of thumb, Cryptorchidism, Short thumb, Preaxial hand polydactyly... OMIM:113620
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad hallux, Optic nerve hypoplasia, Spina bifida, Overlapping toe, Preaxial hand polydactyly, 2... ORPHA:508498
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Microphthalmia, Anemia... OMIM:614083
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... ORPHA:1352
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Prominent fingertip pads, Microphthalmia, Joint contracture of the 5th finger, 2-3 toe syndactyly OMIM:620098
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Cryptorchidism, Short middle ... OMIM:607932
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5th finger, Micro... ORPHA:568
Fetal Alcohol Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1915
Degcags Syndrome
Leukopenia, Iron deficiency anemia, Agenesis of corpus callosum, Hepatomegaly, Syndactyly, Congen... OMIM:619488
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Patent ductus arteriosus, Hydrocephalus, Partial duplicati... OMIM:164210
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Broad thumb, Brachydactyly OMIM:614526
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microphthalmia, Pachy... OMIM:251300
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormal metacarpal morphology, Micro... ORPHA:284160
Trichothiodystrophy
Cryptorchidism, Partial agenesis of the corpus callosum, Bilateral microphthalmos, Increased mean... ORPHA:33364
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Fryns Syndrome
Ectopic pancreatic tissue, Rocker bottom foot, Proximal placement of thumb, Cryptorchidism, Short... OMIM:229850
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Irregular ossification of hand bones, Polydactyly, Short distal phal... OMIM:109400
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Cryptorchidism, Camptodactyly, Microphthalmia OMIM:614230
Ohdo Syndrome, X-Linked
Ulnar deviation of the hand, Overlapping toe, Cryptorchidism, Short thumb, Long thumb, Microphtha... OMIM:300895
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cutaneous syndactyly,... OMIM:257850
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... ORPHA:3472
Atelis Syndrome 2
Patent ductus arteriosus, Anemia, Microphthalmia, Clinodactyly, Thrombocytopenia OMIM:620185
Incontinentia Pigmenti
Finger syndactyly, Eosinophilia, Camptodactyly of finger, Abnormal hand morphology, Absent hand, ... ORPHA:464
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos ORPHA:2399
22Q11.2 Deletion Syndrome
Arachnodactyly, Spina bifida, Splenomegaly, Hydrocephalus, Meningocele, Cryptorchidism, Patent du... ORPHA:567
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism, Metaphyseal widening, Spina bifida OMIM:234100
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Polymicrogyria, Unilateral microphthalmos, Adducted thumb OMIM:618874
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand monodactyly, Short phala... OMIM:609945
Histiocytoid Cardiomyopathy
Hepatomegaly, Hydrocephalus, Microphthalmia, Agenesis of corpus callosum, Congenital aphakia ORPHA:137675
Aicardi Syndrome
Partial agenesis of the corpus callosum, Small hand, Hepatoblastoma, Microphthalmia, Pachygyria, ... ORPHA:50
Mend Syndrome
Overlapping fingers, Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fingers, ... ORPHA:401973
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowing of the legs, Fl... ORPHA:85167
Dubowitz Syndrome
Syndactyly, Aplastic anemia, Cryptorchidism, Acute lymphoblastic leukemia, Hypoplasia of the iris... OMIM:223370
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Stippled calcification in carpal bones, Bilateral talipes equi... OMIM:302960
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Microphthalmia OMIM:617306
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the thy... ORPHA:861
Cat Eye Syndrome
Absent radius, Patent ductus arteriosus, Biliary atresia, Umbilical hernia, Microphthalmia OMIM:115470
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Overlapping toe OMIM:618571
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Talipes equinovarus ORPHA:35173
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Cryptorchidism, Ivory epiphyses of the phalanges of the hand, Hypopla... OMIM:133540
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia, Hydrocephalus, Polydactyly ORPHA:77301
3Q29 Microdeletion Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Patent ductus arteriosus, Tapered finger ORPHA:65286
Fontaine Progeroid Syndrome
Syndactyly, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus,... OMIM:612289
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Camptodactyly of toe ORPHA:251038
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Rodrigues Blindness
Microphthalmia OMIM:268320
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly OMIM:618727
Acro-Renal-Ocular Syndrome
Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda... ORPHA:959
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Cryptorchidism, Patent ductus arteriosus, Clinodactyly of the 5th finger, Microphthal... OMIM:616975
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Cystic Fibrosis
Male infertility OMIM:219700
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postaxial hand poly... ORPHA:261112
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm, Microphthal... OMIM:268400
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Tibial bowing, Short foot, Osteolytic defects of the distal phalanges of the hand,... OMIM:601812
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Absent thumb, Bilateral cryptorchidism, Short thumb, Ulnar bowing, ... OMIM:263650
Nance-Horan Syndrome
Microphthalmia, Short phalanx of finger, Broad finger OMIM:302350
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia OMIM:156610
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Finger clinodactyly, Cranium bifidum occultum, Microphthalmia, Agenesis ... ORPHA:306542
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Primary hypothyroidism, Delayed puberty, Male hypogonadism OMIM:219800
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Metatarsus adductus, Talipes equinov... OMIM:272950
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... ORPHA:364577
Myhre Syndrome
Overlapping toe, Cryptorchidism, Patent ductus arteriosus, Short toe, 2-3 toe syndactyly, Intraut... OMIM:139210
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Hallermann-Streiff Syndrome
Cryptorchidism, Small hand, Short foot, Abdominal situs inversus, Clinodactyly of the 5th finger,... ORPHA:2108
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta OMIM:612109
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Short tibia, Preaxial polydactyly, Fibular hypoplasia,... OMIM:617925
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent ... OMIM:268300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Microphthalmia, Pachygyria, Polymicrogyria,... OMIM:253280
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Aplasia of the thymus, Broad hallux, Hydrocele testis, Prolonged neonatal jaundic... OMIM:620186
Alström Syndrome
Hypergonadotropic hypogonadism, Precocious puberty in females, Decreased response to growth hormo... ORPHA:64
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Thrombocytopenia, Genu valgum, Buphthalmos, Azoospermia, Microphthalmia, Umbilica... ORPHA:534
Witteveen-Kolk Syndrome
Short palm, Branchial fistula, Toe syndactyly, Unilateral cryptorchidism, Overlapping toe, Proxim... OMIM:613406
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Talipes equinovarus, Microphthalmia, Pachygyria, Polymicrogyria, B... OMIM:100300
Momo Syndrome
Large hands, Bilateral microphthalmos, Femoral bowing ORPHA:2563
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Bilateral microphth... ORPHA:93325
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Leukocytosis, Eosinophilia OMIM:308300
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Camptodactyly of finger, Broad thumb, Tapered finger ORPHA:1236
Papillorenal Syndrome
Microphthalmia OMIM:120330
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Oculo-Palato-Cerebral Syndrome
Short foot, Microphthalmia, Small hand, Intrauterine growth retardation ORPHA:2714
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Phace Association
Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia OMIM:606519
Microphthalmia, Syndromic 1
Syndactyly, Anophthalmia, Cryptorchidism, Radial deviation of finger, Camptodactyly, Prominent fi... OMIM:309800
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Lymphedema-Distichiasis Syndrome
Microphthalmia, Patent ductus arteriosus OMIM:153400
Oculodentodigital Dysplasia
4-5 finger syndactyly, Joint contracture of the 5th finger, Short middle phalanx of the 5th finge... OMIM:164200
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia, Abnormality of the medullary cavity of the long bones OMIM:127000
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Skin Creases, Congenital Symmetric Circumferential, 2
Tapered finger, Cryptorchidism, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the... OMIM:616734
Phace Syndrome
Microphthalmia, Lens coloboma, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:42775
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly, Elevated hepatic transaminase, Hepatomegaly ORPHA:90324
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cryptorchidism, Microphthalmia ORPHA:191
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short metacarpal, Broad thumb, Short distal phalanx of finger OMIM:201180
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Rocker bottom foot, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Preaxial hand pol... ORPHA:857
Tetraamelia Syndrome 1
Asplenia, Microphthalmia, Hydrocephalus OMIM:273395
8Q24.3 Microdeletion Syndrome
Branchial cyst, Long toe, Short femur, Optic nerve hypoplasia, Micromelia, Short hallux, Rocker b... ORPHA:508488
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh... OMIM:608670
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus, Cutaneous syndactyly OMIM:617666
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Broad hallux, Arachnodactyly, Short finger OMIM:601552
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Duplication of thumb ph... OMIM:612474
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Cryptorchidism OMIM:603457
Renpenning Syndrome 1
Camptodactyly, Clinodactyly of the 5th finger, Microphthalmia, Synostosis of the proximal phalanx... OMIM:309500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P... ORPHA:261552
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing OMIM:259770
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Prominent fingertip pads, Taper... OMIM:619539
Mowat-Wilson Syndrome
Microphthalmia, Cryptorchidism, Patent ductus arteriosus, Agenesis of corpus callosum OMIM:235730
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Periventricular h... ORPHA:2152
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Tapered finger, Partial agenesis of the corpus callosum, Simplified ... OMIM:616212
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Hemolytic anemia, Hydrocephalus, Microphthalmia OMIM:175780
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Cryptorchidism, Genu valgum, Finger swelling, Microphthalmia OMIM:309000
Isolated Arrhinia
Microphthalmia ORPHA:1134
Norrie Disease
Hypoplasia of the iris, Cryptorchidism, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos OMIM:154500

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 Katnb1

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 Katnb1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
KATNB1 is a master regulator of multiple katanin enzymes in male meiosis and haploid germ cell development. Development (Cambridge, England) (December 2021) Katnb1tm1a(EUCOMM)Hmgu 34822718
Mutations in the Katnb1 gene cause left-right asymmetry and heart defects. Developmental dynamics : an official publication of the American Association of Anatomists (September 2017) Katnb1tm1a(EUCOMM)Hmgu 28791777
Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron (December 2014) Katnb1tm1a(EUCOMM)Hmgu PMC4485387

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Katnb1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Katnb1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Katnb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Katnb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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