Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

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

Adult LacZ

LacZ Images Wholemount

18 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

4 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... 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
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Deleted in azoospermia
Azoospermia OMIM:400003
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Young Syndrome
Azoospermia OMIM:279000
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:240950
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Orbital encephalocele, Microphthalmia, Gray matter het... OMIM:164180
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Acalvaria
Abnormality of neuronal migration, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holop... ORPHA:945
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve... ORPHA:330015
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulati... OMIM:602668
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Encephalocele, Split hand, Mic... ORPHA:2117
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Thanatophoric Dysplasia Type 2
Micromelia, Encephalocele, Abnormality of neuronal migration, Brachydactyly, Hydrocephalus, Holop... ORPHA:93274
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Agenesis of corpus callosum, Talipes equinovarus, Microphthalmia... OMIM:616570
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Tapered finger OMIM:619033
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Triploidy
Finger syndactyly, Intrauterine growth retardation, Abnormality of the gallbladder, Abnormality o... ORPHA:3376
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility OMIM:613808
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Syndromic 12
Neonatal death, Anophthalmia, Microphthalmia OMIM:615524
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Holoprosencephaly 11
Holoprosencephaly, Polysplenia, Agenesis of corpus callosum OMIM:614226
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Holoprosencephaly, Pate... ORPHA:77298
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth... OMIM:613885
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dy... ORPHA:1528
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Holoprosencephaly... ORPHA:1590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Agyria, Encephalocele, Agenesis of corpus callosum, Hydroc... OMIM:253800
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Periventricular heterotopia, Talipes equinovarus, Microphthalmia... OMIM:616171
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Holoprosencephaly, Hydrocephalus OMIM:617967
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Hydrolethalus
Micromelia, Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Postaxial h... ORPHA:2189
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
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
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Tapered finger OMIM:300706
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Metatarsus valgus, Anophthalmia, Agenesis of corpus c... ORPHA:899
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Monosomy 18P
Holoprosencephaly, Brachydactyly, Microphthalmia ORPHA:1598
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,... ORPHA:1908
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Proximal placement of thumb, Agenesis of corpus callosum OMIM:615433
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Camptodactyly of finger, Intrauterine growth retardation, Adducted thumb, Holopr... ORPHA:2570
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatom... ORPHA:858
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Frontal encephalocele, Microphthalmia, Lissencephaly, Optic nerve hy... OMIM:218670
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, 2-3 toe s... OMIM:264480
Distal Monosomy 7Q36
Clinodactyly of the 5th finger, Holoprosencephaly, Symphalangism affecting the phalanges of the hand ORPHA:1636
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Partial agenesis of the corpus callosum, Subcortical band heterotopia, Focal polymicrogyria, Micr... OMIM:615771
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Trisomy 1Q
Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Anophthalmia, Agenesis of cor... ORPHA:261344
Trisomy 13
Ectrodactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Anophthalmia, Micr... ORPHA:3378
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus... ORPHA:300298
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Pachygyria, Ag... OMIM:613153
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Holoprosencephaly, Anterior encephalocele, Short femur OMIM:601357
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Microphthalmia OMIM:614830
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida, Anophthalmia ORPHA:1104
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Talipes equinovarus, Microphthalmia, Holoprosencephaly, 3-4 finger cutaneous syndactyly OMIM:612530
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Agenesis of corpus callosum OMIM:274270
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia OMIM:614813
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Agenesis of corpus callosum, Microph... ORPHA:139471
Meckel Syndrome 14
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, ... OMIM:619879
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Short toe, Short finger, Intrauterine growth retardation, Bowing of the arm,... OMIM:269860
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Fibular Hemimelia
Toe syndactyly, Short tibia, Finger syndactyly, Fibular aplasia, Genu valgum, Anophthalmia, Talip... ORPHA:93323
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Lissencephaly 8
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Talipes equinovarus, Microphthalm... OMIM:617255
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Focal polymicrogyria, Fibular bowing, Tibial bowing... OMIM:612651
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polymicrogyria, Polydactyly, Hydrocephalus, Microphthalmia, Leukemia, Syndactyly OMIM:602501
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Microphth... OMIM:146510
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Agenesis of corp... OMIM:610828
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
49,Xxxxy Syndrome
Azoospermia, Talipes equinovarus, Radioulnar synostosis, Clinodactyly of the 5th finger, Holopros... ORPHA:96264
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Congenital Rubella Syndrome
Intrauterine growth retardation, Splenomegaly, Aplasia/Hypoplasia of the iris, Hepatomegaly, Thro... ORPHA:290
Warburg Micro Syndrome 1
Microphthalmia, Perisylvian polymicrogyria, Overlapping toe, Agenesis of corpus callosum OMIM:600118
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Holoprosencephaly, Hyposegmentation of neutrophil nuclei ORPHA:250999
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Nanophthalmos
Microphthalmia ORPHA:35612
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty... ORPHA:91
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Metatarsus valgus, Agenesis of corpus callosum, Abnormality of neuronal ... ORPHA:261236
Lambotte Syndrome
Preaxial foot polydactyly, Intrauterine growth retardation, Semilobar holoprosencephaly OMIM:245552
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Holoprosencephaly
Spinal dysraphism, Abnormality of the spleen, Branchial anomaly, Encephalocele, Anophthalmia, Abn... ORPHA:2162
Jacobsen Syndrome
Annular pancreas, Intrauterine growth retardation, Macular hypoplasia, Brachydactyly, Thrombocyto... OMIM:147791
Meckel Syndrome
Accessory spleen, Postaxial foot polydactyly, Preaxial hand polydactyly, Encephalocele, Anophthal... ORPHA:564
Frontonasal Dysplasia 1
Cranium bifidum occultum, Anterior basal encephalocele, Clinodactyly, Radial deviation of finger,... OMIM:136760
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Intrauterine growth retardation, Absent gallbladder, Agenesis of cor... ORPHA:556955
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Microphthalmia ORPHA:141333
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Cofs Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia ORPHA:1466
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab... ORPHA:251066
Cockayne Syndrome Type 2
Hepatomegaly, Intrauterine growth retardation, Anophthalmia ORPHA:90322
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Camptodactyly of finger, Polymicrogyria, Intrauterine growth retardatio... ORPHA:468631
Pierpont Syndrome
Abnormal cortical gyration, Short toe, Prominent fingertip pads, Short finger, Microphthalmia ORPHA:487825
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Polymicrogyria, Type II lissencephaly, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia OMIM:615181
Trisomy 18
Deviation of finger, Camptodactyly of finger, Intrauterine growth retardation, Spina bifida, Post... ORPHA:3380
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Agenesis of corpus callosum ORPHA:990
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Matthew-Wood Syndrome
Annular pancreas, Intrauterine growth retardation, Anophthalmia, Abnormal spleen morphology, Micr... ORPHA:2470
Baraitser-Winter Syndrome 2
Microphthalmia, Pachygyria, Lissencephaly, Agenesis of corpus callosum OMIM:614583
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Polymicrogyria, Absent distal phalanges, Hydrocephalus, Microphthal... OMIM:614219
Bloom Syndrome
Azoospermia, Oligozoospermia, Premature ovarian insufficiency, Diabetes mellitus, Male infertility ORPHA:125
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Agenesis of corpus callosum, Hydr... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Microp... OMIM:615249
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal metaphysis morphology, Agenesis of corpus callosum, Bowing of the long bones... ORPHA:93267
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Short thumb, Ectrodactyly, Abnormal morphology of the radius, Abnorma... ORPHA:2538
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Holoprosencephaly,... ORPHA:2163
Nanophthalmos 4
Microphthalmia OMIM:615972
Microform Holoprosencephaly
Intrauterine growth retardation, Holoprosencephaly, Agenesis of corpus callosum ORPHA:280200
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Holoprosencephaly 9
Abnormal cortical gyration, Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia... OMIM:610829
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly ORPHA:66625
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Holoprosencephaly, Abnormal morphology of the radius ORPHA:2165
Vacterl With Hydrocephalus
Intrauterine growth retardation, Anophthalmia, Hypoplasia of the radius, Spina bifida, Microphtha... ORPHA:3412
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Umbilical hernia, Intrauterine growth retardation, Agenesis of corpu... OMIM:618651
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia, Microphthalmia ORPHA:291
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Foot polydactyly, Abnormality of neuronal migration, Aplasia/Hypoplasia of th... ORPHA:3186
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microphthalmia, Lissence... OMIM:614833
Holoprosencephaly 14
Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matter heterotopia, Aq... OMIM:619895
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Microphthalmia, Short foot, Short palm OMIM:602342
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Cirrhosis, Hepatomegaly, Holopros... OMIM:270400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Hydrocephalus, Microphthalmia, Postaxial hand polydactyly, Holop... ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Encephalocele, Adducted thumb, Hy... OMIM:614643
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia, N... OMIM:601186
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Exocrine pancreatic insufficiency, Intrauterine growth retardation, ... OMIM:618500
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Sandal gap, Agenesis of corpus callosum OMIM:300887
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Smith-Lemli-Opitz Syndrome
Mesomelia, Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger synda... ORPHA:818
Steinfeld Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the ra... OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia OMIM:613155
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Micropht... OMIM:611134
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Semilobar holoprosencephaly, Coxa valga OMIM:601370
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Simplified gyral pattern, Microphthalmia OMIM:251270
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovarus, Spina bifida... ORPHA:63259
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Syndactyly, Clinodactyly, Microphthalmia OMIM:610023
Bresek Syndrome
Intrauterine growth retardation, Neonatal death, Hydrocephalus, Postaxial hand polydactyly, Micro... ORPHA:85284
Developmental Delay With Variable Neurologic And Brain Abnormalities
Camptodactyly, Gray matter heterotopia, Microphthalmia OMIM:619694
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... OMIM:157640
Cockayne Syndrome Type 1
Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anophthalmia ORPHA:90321
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Radioulnar synostosis, Brachydactyly, Coxa vara, Clinodactyly of the 5th fing... OMIM:614701
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Acute lymphoblastic leukemia, Microphthalmia, Clinodactyly of th... ORPHA:1052
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Encephalocele ORPHA:2356
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Overlapping toe, Agenesis of corpus callosum, Microphthalmia, Clinodactyly of t... OMIM:613884
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Microphtha... OMIM:603194
Baraitser-Winter Syndrome 1
Agenesis of corpus callosum, Duplication of phalanx of hallux, Microphthalmia, Pachygyria, Patent... OMIM:243310
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Flexion contracture of toe, Intrauterine growth retardation, Finger joint contracture, Microphtha... ORPHA:48431
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Leukopenia, Absent hand, Portal hypertension, ... ORPHA:974
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Periventricular heterotopia, Lateral ventricle dilatation, Microphthalmia OMIM:614105
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Cerebrooculofacioskeletal Syndrome 1
Second metatarsal posteriorly placed, Agenesis of corpus callosum, Microphthalmia, Camptodactyly,... OMIM:214150
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, ... OMIM:618914
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte... OMIM:618820
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Prolonged G2 phase of cell cycle, Cryptorchidism, Male infertility OMIM:227650
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Absent thumb, Short thumb, Annular pancreas, Preaxial hand polydac... OMIM:227646
Monosomy 13Q14
Finger syndactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Brachydactyl... ORPHA:1587
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Patent ductus art... OMIM:206900
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Op... OMIM:605627
Temtamy Syndrome
Short toe, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finger, Genu varum ORPHA:1777
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Microphthalmia, Po... OMIM:611561
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Intrauterine growth... ORPHA:163966
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Neonatal death, Microphthalmia OMIM:613730
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation, Encephalocele, Agenesis of corpus callosum ORPHA:228390
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos ORPHA:77299
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Optic nerve aplasia, Short 5th metacarpal, Anophthalmia, Agene... ORPHA:264200
Fanconi Anemia, Complementation Group I
Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Agenesis of cor... OMIM:609053
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Simplified gyral pattern, Agenesis of corpus callosum, Microliss... OMIM:617914
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Intrauterine growth retardation, Anopht... ORPHA:138
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microphthalmia ORPHA:3469
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly,... OMIM:301043
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Postaxial hand p... OMIM:615665
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Polymicrogyria, Elevated circulating hepatic transaminase concentration, Micro... OMIM:612379
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Kapur-Toriello Syndrome
Polymicrogyria, Dysplastic corpus callosum, Microphthalmia, Pachygyria, Patent ductus arteriosus ORPHA:2328
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Absent radius, Oligodactyly, Intrauterine growth retardati... OMIM:251230
Bloom Syndrome
Azoospermia, Decreased fertility in females, Type II diabetes mellitus, Cryptorchidism OMIM:210900
Temtamy Syndrome
Agenesis of corpus callosum, Talipes equinovarus, Brachydactyly, Microphthalmia, Short 2nd toe OMIM:218340
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Preaxial polydactyly, Polymicrogyria, Periventricular hete... OMIM:615948
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microtia-Anotia
Holoprosencephaly OMIM:600674
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Finger clinodactyly,... ORPHA:1692
Microtia
Holoprosencephaly ORPHA:83463
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Short thumb, Microphthalmia OMIM:609054
Focal Dermal Hypoplasia
Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Foot polydactyly, Shor... OMIM:305600
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Patent ductus arteriosus, Camptodactyly of fin... ORPHA:2547
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of corpus callosum OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia,... OMIM:613150
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Ulnar deviation of finger, Umbilical hernia, Camptodactyly of finger, Aniridia, Anophthalmia, Tal... ORPHA:1101
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Short tibia, Finger synda... ORPHA:1106
Curry-Jones Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Agenesis of corpus cal... ORPHA:1553
Fanconi Anemia, Complementation Group R
Absent thumb, Radial dysplasia, Hydrocephalus, Microphthalmia, Anemia OMIM:617244
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Polymicrog... OMIM:601707
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Moebius Syndrome
Hand clenching, Clinodactyly, Radial deviation of finger, Aplasia/Hypoplasia involving the metaca... OMIM:157900
Osteoporosis-Pseudoglioma Syndrome
Abnormal femoral neck/head morphology, Abnormal lower limb bone morphology, Metaphyseal widening,... ORPHA:2788
Proboscis Lateralis
Anophthalmia, Microphthalmia, Holoprosencephaly, Patent ductus arteriosus, Optic nerve hypoplasia ORPHA:141099
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Tetrasomy 9P
Polymicrogyria, Pachygyria, Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infe... ORPHA:3310
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Splenomegaly, Anophthalmia OMIM:615636
Braddock-Carey Syndrome 2