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

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Spermatogenic Failure 4
Azoospermia OMIM:270960
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Young Syndrome
Azoospermia OMIM:279000
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Azoospermia, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614897
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Azoospermia,... OMIM:300200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Microcephaly, Polymicrogyria, Cortical dysplasia OMIM:615771
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
47,Xyy Syndrome
Varicocele, Azoospermia, Micropenis, Cryptorchidism, Increased serum testosterone level, Oligospe... ORPHA:8
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Gray matter heterotopia, Microphthalmia, Orbital encep... OMIM:164180
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Microcephaly, Radial deviation of finger OMIM:233270
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Microcephaly, Holoprosencephaly, Intrauterine growth retardation OMIM:306990
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpu... ORPHA:2570
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Acalvaria
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Abnormality of neuron... ORPHA:945
Hartsfield Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Lobar holoprosencepha... ORPHA:2117
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Holoprosencephaly, Cerebral cortical atrophy ORPHA:2523
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the thumb, Anencephaly, Aplasia/... ORPHA:1590
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Meckel Syndrome, Type 8
Anophthalmia, Polydactyly, Microphthalmia, Microcephaly, Postaxial hand polydactyly, Talipes equi... OMIM:613885
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Microcephaly, Talipes equinovarus, Holoprosencephaly OMIM:612530
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Holoprosencephaly, Recurrent Infections, And Monocytosis
Brachydactyly, Monocytosis, Agenesis of corpus callosum, Tapered finger, Microcephaly, Short fing... OMIM:610680
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Triploidy
Finger syndactyly, Abnormality of the pancreas, Intrauterine growth retardation, Abnormality of t... ORPHA:3376
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Rocker bottom foot, Microphthalmia, Microcephaly, Talipes equino... OMIM:616570
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Ring Chromosome 21 Syndrome
Clinodactyly, Azoospermia, Microcephaly, Small hand, Holoprosencephaly, Syndactyly ORPHA:1445
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum OMIM:614226
Thanatophoric Dysplasia Type 2
Brachydactyly, Patent ductus arteriosus, Micromelia, Abnormality of the metaphysis, Hydrocephalus... ORPHA:93274
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Hepatomegaly, Jaundice, Microphthalmia, ... ORPHA:858
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility OMIM:618300
Vissers-Bodmer Syndrome
Holoprosencephaly, Tapered finger, Intrauterine growth retardation OMIM:619033
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Intrauterine growth retardation, Microphthalmia, Microcephaly, Simplified gyral... OMIM:616171
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Hydrolethalus
Anophthalmia, Agenesis of corpus callosum, Anencephaly, Microphthalmia, Micromelia, Postaxial han... ORPHA:2189
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Microphthalmia, Hydrocephalu... ORPHA:77298
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microphthalmia, Lissen... ORPHA:1528
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Walker-Warburg Syndrome
Abnormal cortical gyration, Anophthalmia, Agenesis of corpus callosum, Metatarsus valgus, Microph... ORPHA:899
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Ap... ORPHA:1908
48,Xyyy Syndrome
Azoospermia, Primary gonadal insufficiency, Male hypogonadism ORPHA:99329
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Adducted thumb, Hydrocephalus, Absent septum pellucidum, Holoprosenc... ORPHA:2182
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypothyroidism, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia, Lisse... OMIM:218670
Monosomy 18P
Microphthalmia, Microcephaly, Holoprosencephaly, Brachydactyly ORPHA:1598
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Absent septum pellucidum, Holoprosencephaly, Short femur OMIM:601357
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Solitary Median Maxillary Central Incisor
Anophthalmia, Anterior hypopituitarism, Microphthalmia, Microcephaly, Holoprosencephaly, Decrease... OMIM:147250
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:280679
Distal Monosomy 7Q36
Microcephaly, Clinodactyly of the 5th finger, Holoprosencephaly, Symphalangism affecting the phal... ORPHA:1636
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Agenesis of corpus callosum, Holoprosencephaly, Microphthalmia, Lissencephaly, Pachygyria... OMIM:253800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum ORPHA:411986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Type II lissencephaly, Hydrocephalus OMIM:614830
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism, Delayed puberty ORPHA:90646
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Cavum septum pellucidum, Polydactyly, Microphthalmia, Megalencephaly, Hydrocephalus, Po... OMIM:602501
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Type II lissencephaly, Hydrocephalus ORPHA:324416
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Tapered finger OMIM:300706
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Microcephaly, Micromelia, Cerebral cortical atrophy ORPHA:291
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Leukemia, Microphthalmia, Microcephaly, Neutropenia, Anemia, Thrombocy... OMIM:614082
Pseudotrisomy 13 Syndrome
Agenesis of corpus callosum, 2-3 toe syndactyly, Postaxial foot polydactyly, Holoprosencephaly, M... OMIM:264480
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Decreased circulating osteocalci... ORPHA:330015
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Microcephaly, Cerebral atrophy, Agenesis of corpus callosum OMIM:274270
Microgastria-Limb Reduction Defects Association
Absent thumb, Fusion of the left and right thalami, Anophthalmia, Splenogonadal fusion, Agenesis ... OMIM:156810
Cofs Syndrome
Cerebral calcification, Intrauterine growth retardation, Microphthalmia, Microcephaly, Cerebral c... ORPHA:1466
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadis... OMIM:300845
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:615433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Microphthalmia, Lissencephaly, Pachygyria, Hydrocephalus, Type II lissencephaly, Abnormal... OMIM:613153
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Mmep Syndrome
Microphthalmia, Microcephaly, Triphalangeal thumb, Split foot ORPHA:3434
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Trisomy 1Q
Toe syndactyly, Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Arachnodacty... ORPHA:261344
Congenital Rubella Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Splenomegaly, Hepatomegaly, Jaundice, ... ORPHA:290
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
49,Xxxxy Syndrome
Coxa valga, Azoospermia, Clinodactyly of the 5th finger, Holoprosencephaly, Radioulnar synostosis... ORPHA:96264
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Radial club hand, Microcephaly, Abnormality of the radius, Holop... ORPHA:2165
Trisomy 13
Anophthalmia, Intrauterine growth retardation, Patent ductus arteriosus, Microphthalmia, Ectrodac... ORPHA:3378
Muscle-Eye-Brain Disease
Holoprosencephaly, Meningocele, Hydrocephalus ORPHA:588
Warburg Micro Syndrome 1
Cerebral atrophy, Agenesis of corpus callosum, Perisylvian polymicrogyria, Microphthalmia, Microc... OMIM:600118
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Finger syndactyly, Agenesis of corpus callosum, Postaxial foot polydactyly, Microph... ORPHA:139471
Gapo Syndrome
Oligospermia, Hypogonadism, Amenorrhea, Dysmenorrhea ORPHA:2067
Lambotte Syndrome
Microcephaly, Semilobar holoprosencephaly, Intrauterine growth retardation, Preaxial foot polydac... OMIM:245552
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Cerebral atrophy, Intrauterine growth retardation, Agenesis of corpus call... ORPHA:468631
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria OMIM:251270
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcephaly ORPHA:2528
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia, Deviation of finger ORPHA:1104
Short-Rib Thoracic Dysplasia 12
Brachydactyly, Bowing of the legs, Bowing of the arm, Hydrocephalus, Intrauterine growth retardat... OMIM:269860
Meckel Syndrome
Bowing of the long bones, Hydrocephalus, Anophthalmia, Postaxial foot polydactyly, Accessory sple... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Leukoencephalopathy, Microphthalmia, Hydrocephalus, Type II lissencephaly... OMIM:615181
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Pallister-Hall Syndrome
Hypothalamic hamartoma, Toe syndactyly, Intrauterine growth retardation, Patent ductus arteriosus... OMIM:146510
Microphthalmia With Limb Anomalies
Toe syndactyly, Anophthalmia, Hand oligodactyly, Postaxial foot polydactyly, Fibular hypoplasia, ... OMIM:206920
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Cockayne Syndrome Type 2
Hepatomegaly, Subcortical white matter calcifications, Anophthalmia, Intrauterine growth retardation ORPHA:90322
Holoprosencephaly
Brachydactyly, Anophthalmia, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Anter... ORPHA:2162
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Small cerebral cortex, Microphthalmia, Microcephaly, Simplified gyral pat... OMIM:617914
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Agenesis of corpus callosum, Second metatarsal posteriorly placed, Rocker bottom foot... OMIM:214150
Fibular Hemimelia
Fibular hypoplasia, Spina bifida, Short tibia, Short toe, Abnormal morphology of ulna, Genu valgu... ORPHA:93323
Jacobsen Syndrome
Brachydactyly, Intrauterine growth retardation, Clinodactyly of the 5th finger, Thrombocytopenia,... OMIM:147791
Pierpont Syndrome
Abnormal cortical gyration, Primary microcephaly, Microphthalmia, Short finger, Short toe, Promin... ORPHA:487825
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia OMIM:614813
Holoprosencephaly 9
Abnormal cortical gyration, Anophthalmia, Anterior pituitary hypoplasia, Panhypopituitarism, Opti... OMIM:610829
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Coxa valga, Clinodactyly of the 5th finger, Microcephaly, Short distal phalanx of ... ORPHA:2163
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
16P13.11 Microdeletion Syndrome
Metatarsus valgus, Agenesis of corpus callosum, Holoprosencephaly, Microcephaly, Camptodactyly of... ORPHA:261236
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Agenesis of corpus callosum, Cranium bifidum occultum, Radial deviat... OMIM:136760
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Endocrine-Cerebroosteodysplasia
Brachydactyly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Sandal gap, Preaxial pol... OMIM:612651
Trisomy 18
Intrauterine growth retardation, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:3380
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Azoospermi... ORPHA:300298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Abnormally large globe, Microphtha... OMIM:615249
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Meckel Syndrome, Type 4
Bowing of the long bones, Hydrocephalus, Intrauterine growth retardation, Bile duct proliferation... OMIM:611134
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Microphthalmia, Microcephaly, Thin corpus callosum, Camptodactyly OMIM:619694
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Anophthalmia, Agenesis of corpus callosum, Oligodactyly, Short thumb,... ORPHA:2538
1Q41Q42 Microdeletion Syndrome
Holoprosencephaly, Talipes equinovarus, Hyposegmentation of neutrophil nuclei ORPHA:250999
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Hypoplasia of the ulna, Foot polydactyly, Aplasia/Hypoplasia of the thumb, Ho... ORPHA:3186
Baraitser-Winter Syndrome 2
Agenesis of corpus callosum, Microphthalmia, Lissencephaly, Pachygyria, Secondary microcephaly OMIM:614583
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Agenesis of corpus callosum, Optic nerve hypoplasia, Microphthalmia, ... OMIM:614833
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Long fingers, Hand cl... ORPHA:1617
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Occipital encephalocele, Optic nerve hypoplasia, Gray matter heterot... ORPHA:370959
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Joubert Syndrome 22
Postaxial foot polydactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Temporal cortica... OMIM:615665
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, E... ORPHA:1772
Microform Holoprosencephaly
Intrauterine growth retardation, Agenesis of corpus callosum, Panhypopituitarism, Microcephaly, H... ORPHA:280200
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Agenesis of corpus callosum ORPHA:990
Nanophthalmos
Microphthalmia ORPHA:35612
Adams-Oliver Syndrome 2
Microphthalmia, Microcephaly, Polymicrogyria, Cerebral atrophy OMIM:614219
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Camptodactyly of finger, Cerebral cortical atrophy, Intrauterine growth retardation ORPHA:48431
Adams-Oliver Syndrome
Brachydactyly, Hydrocephalus, Portal hypertension, Finger syndactyly, Leukopenia, Split hand, Por... ORPHA:974
Vacterl With Hydrocephalus
Anophthalmia, Intrauterine growth retardation, Hypoplasia of the radius, Microphthalmia, Spina bi... ORPHA:3412
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Holoprosencephaly-Postaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Microphthalmia, Microcephaly, Posta... ORPHA:2166
Pierpont Syndrome
Short palm, Microphthalmia, Microcephaly, Short finger, Short toe, Prominent fingertip pads, Shor... OMIM:602342
Meckel Syndrome, Type 2
Bowing of the long bones, Intrauterine growth retardation, Bile duct proliferation, Anencephaly, ... OMIM:603194
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Agenesis of corpus callosum, Rhizomelia, Microphthalmia, Proximal place... ORPHA:93267
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Temtamy Syndrome
Brachydactyly, Genu varum, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5th fin... ORPHA:1777
Arachnoid Cyst
Mild malformation of cortical development, Hydrocephalus, Holoprosencephaly, Posterior fossa cyst... ORPHA:2356
Matthew-Wood Syndrome
Anophthalmia, Intrauterine growth retardation, Abnormal spleen morphology, Microphthalmia, Annula... ORPHA:2470
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Postaxial ... ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Subcortical heterotopia, Optic nerve hypoplasia, Gray matter heterotopia, ... OMIM:614643
Monosomy 13Q14
Brachydactyly, Finger syndactyly, Intrauterine growth retardation, Aplasia/Hypoplasia of the thum... ORPHA:1587
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Absent gallbladder, Agenesis of corpus callosum, Intrauterine growth... ORPHA:556955
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial foot polydactyly, Occipital encephalocele, Bile duct prolifer... OMIM:611561
Holoprosencephaly 7
Semilobar holoprosencephaly, Fusion of the left and right thalami, Agenesis of corpus callosum, P... OMIM:610828
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Iniencephaly
Myelomeningocele, Rocker bottom foot, Rhizomelia, Anencephaly, Holoprosencephaly, Spinal dysraphi... ORPHA:63259
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Xk Aprosencephaly Syndrome
Microphthalmia, Microcephaly, Abnormal morphology of the radius ORPHA:3469
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Cerebrooculonasal Syndrome
Hypoplasia of the corpus callosum, Anophthalmia, Postaxial hand polydactyly, Hydrocephalus, Encep... OMIM:605627
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly OMIM:300915
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Ante... OMIM:206900
Curry-Jones Syndrome
Agenesis of corpus callosum, Hemimegalencephaly, Microphthalmia, Cutaneous finger syndactyly, Dup... OMIM:601707
Cockayne Syndrome Type 1
Anophthalmia, Hepatomegaly, Anemia, Elevated hepatic transaminase, Basal ganglia calcification ORPHA:90321
Mosaic Variegated Aneuploidy Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5... ORPHA:1052
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retar... OMIM:618651
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Anophthalmia ORPHA:66625
Steinfeld Syndrome
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ra... OMIM:184705
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, 2-3 toe syndactyly, Short femoral neck, Clinodactyly of the 5th finger, Lobar holo... OMIM:614701
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short thumb, Microcephaly, Anemia, Thrombocytopenia, Patent ductus arteriosus, Abse... OMIM:227646
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Intrauterine growth retardation, Patent ductus arteriosus, 2-3 toe syndactyly, Per... OMIM:270400
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Smith-Lemli-Opitz Syndrome
Brachydactyly, Finger syndactyly, Intrauterine growth retardation, Patent ductus arteriosus, Abno... ORPHA:818
Bloom Syndrome
Azoospermia, Oligospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency ORPHA:125
Fanconi Anemia, Complementation Group I
Absent thumb, Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum, Optic n... OMIM:609053
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Bilateral microphthalmos, Dilati... ORPHA:77299
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary OMIM:610125
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa valga OMIM:601370
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Holoprosencephaly 2
Agenesis of corpus callosum, Microphthalmia, Microcephaly, Anterior pituitary agenesis, Holoprose... OMIM:157170
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Metaphyseal cupping of proximal phalanges, Rhizomelia, Metaphyse... OMIM:300863
Baraitser-Winter Syndrome 1
Agenesis of corpus callosum, Patent ductus arteriosus, Duplication of phalanx of hallux, Micropht... OMIM:243310
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Diabetes mellitus, Testicular atrophy OMIM:222300
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly, Gray ma... OMIM:618820
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, 2-3 toe syndactyly, Sandal gap, Joint contracture of the 5th finger, Microphthalmi... OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Cerebral calcification, Hydrocephalus, Buphthalmos, Microphthalmia, Hypoplasia of the cor... OMIM:616538
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Clinodactyly, Brachydactyly, Syndactyly OMIM:610023
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum, Pa... OMIM:301043
Fanconi Anemia, Complementation Group E
Absent thumb, Pancytopenia, Leukemia, Absent radius, Short thumb, Thrombocytopenia, Microphthalmi... OMIM:600901
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Intrauterine growth retardation, Patent ductus arteriosus, Bila... OMIM:601186
17Q12 Microduplication Syndrome
Microphthalmia, Toe syndactyly, Finger syndactyly, Cortical dysplasia ORPHA:261272
Microphthalmia, Syndromic 8
Microphthalmia, Microcephaly, Split foot OMIM:601349
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia, Hypoplasia of the corpus callosum OMIM:615636
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Anophthalmia, Short 5th metacarpal, Agenesis of corpus callosum, Anterior pituita... ORPHA:264200
Fanconi Anemia, Complementation Group A
Absent thumb, Pancytopenia, Leukemia, Absent radius, Short thumb, Thrombocytopenia, Microphthalmi... OMIM:227650
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Rhizomelia OMIM:615877
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Intrauterine growth retardation, Encephalocele, Agenesis of corpus callosum ORPHA:228390
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Absent radius, Aplasia/Hypoplasia of the corpus callosum, Oligod... OMIM:251230
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Septo-optic dysplasia, Agenesis of corpus callosum, Anterior pi... ORPHA:95494
Fanconi Anemia, Complementation Group C
Absent thumb, Pancytopenia, Intrauterine growth retardation, Absent radius, Leukemia, Short thumb... OMIM:227645
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Rocker bottom foot, Microphthalmia, Microcephaly, Camptodactyly ... OMIM:610756
Charge Syndrome
Brachydactyly, Anophthalmia, Intrauterine growth retardation, Patent ductus arteriosus, Clinodact... ORPHA:138
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Mesoaxial polydactyly, Panhypopituit... ORPHA:672
Cat-Eye Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:195
Fanconi Anemia, Complementation Group S
Clinodactyly, Microphthalmia, Microcephaly, Anemia, Proximal placement of thumb OMIM:617883
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Patent ductus arteriosus, Microphthalmia, Pachygyria, Polymicrogyria ORPHA:2328
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Proboscis Lateralis
Abnormal corpus callosum morphology, Anophthalmia, Patent ductus arteriosus, Optic nerve hypoplas... ORPHA:141099
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Intrauterine growth retardation, Rhizomelia, Metaphyseal chondrodysplasia, Microphtha... ORPHA:163966
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Microcephaly, Hypoplasia of the corpus callosum OMIM:614105
Joubert Syndrome 37
Microphthalmia, Postaxial polydactyly, Hepatomegaly, Hypoplasia of the corpus callosum OMIM:619185
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Microphthalmia, Microcephaly, Cerebral cortical atrophy, Hypoplas... OMIM:614222
Joubert Syndrome 14
Microphthalmia, Hydrocephalus, Encephalocele, Postaxial polydactyly OMIM:614424
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Isolated Exencephaly
Holoprosencephaly, Posterior pituitary agenesis, Agenesis of corpus callosum, Anterior pituitary ... ORPHA:563612
Cerebrooculofacioskeletal Syndrome 4
Intrauterine growth retardation, Camptodactyly of finger, Dislocated radial head, Rocker bottom f... OMIM:610758
Sandestig-Stefanova Syndrome
Clinodactyly, Intrauterine growth retardation, Rocker bottom foot, Primary microcephaly, Micropht... OMIM:618804
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility ORPHA:730
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
3P25.3 Microdeletion Syndrome
Acromesomelia, Patent ductus arteriosus, Tapered finger, Cerebral white matter atrophy, Broad hal... ORPHA:435638
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Short ... ORPHA:1106
Mosaic Trisomy 1
Toe syndactyly, Broad toe, Agenesis of corpus callosum, Hepatic agenesis, Absent distal interphal... ORPHA:1692
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Pancreatic hypoplasia, Maturity-onset diabetes of the young, Atretic vas deferen... OMIM:137920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Agenesis of corpus callosum, Microphthalmia, Microcephaly, Pachygyria, Buphthalmos... OMIM:613150
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus, Postaxial polydactyly, Occipital encephalocele, Periventricular heterot... OMIM:615948
Focal Dermal Hypoplasia
Foot polydactyly, Microcephaly, Brachydactyly, Anophthalmia, Hand oligodactyly, Short phalanx of ... OMIM:305600
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of the olfactory bulb ORPHA:2250
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the iris, Porencephalic cyst, Microphth... OMIM:613001
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia, Microcephaly, Simplified gyral pattern OMIM:152950
Kapur-Toriello Syndrome
Intrauterine growth retardation, Patent ductus arteriosus, Overlapping fingers, Short thumb, Micr... OMIM:244300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Warburg Micro Syndrome 4
Hypoplasia of the corpus callosum, Perisylvian polymicrogyria, Microphthalmia, Cerebral cortical ... OMIM:615663
Curry-Jones Syndrome
Toe syndactyly, Foot polydactyly, Agenesis of corpus callosum, Finger syndactyly, Microphthalmia,... ORPHA:1553
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Paten... ORPHA:2547
Chromosome 13Q33-Q34 Deletion Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, Cutaneous syndactyly, Anencephaly, Tapered... OMIM:619148
Heart And Brain Malformation Syndrome
Cerebral atrophy, Aplasia/Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Hand c... OMIM:616920
Holoprosencephaly 3
Microcephaly, Holoprosencephaly, Central diabetes insipidus OMIM:142945
Charge Syndrome
Bilateral talipes equinovarus, Gonadotropin deficiency, Anophthalmia, Hypoplasia of the ulna, Pat... OMIM:214800
Fraser Syndrome 1
Abnormal cortical gyration, Hydrocephalus, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasia of ... OMIM:219000
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Anophthalmia, Phthisis bulbi, 2... OMIM:300166
Frontorhiny
Brachydactyly, Cranium bifidum occultum, Aplasia/Hypoplasia of the corpus callosum, Basal encepha... ORPHA:391474
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Occipital ... OMIM:236670
Seckel Syndrome 2
Microphthalmia, Microcephaly, Clinodactyly of the 5th finger OMIM:606744
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent ductus arteriosus, Secondary microcephaly OMIM:618652
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Accessory spleen, Bile duct proliferation, Microcephaly, Bowing o... OMIM:249000
Cousin Syndrome
Toe syndactyly, 4-5 toe syndactyly, 2-3 toe syndactyly, Absent proximal finger flexion creases, D... OMIM:260660
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele, Hypoplasia of the corpus callosum ORPHA:1791
Marden-Walker Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Microphthalmia, Microcephaly, Radio... OMIM:248700
Fanconi Anemia, Complementation Group F
Absent thumb, Leukopenia, Intrauterine growth retardation, Patent ductus arteriosus, Short thumb,... OMIM:603467
Microtia-Anotia
Holoprosencephaly OMIM:600674
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Fanconi Anemia, Complementation Group L
Absent thumb, Intrauterine growth retardation, Microphthalmia, Anemia, Hydrocephalus OMIM:614083
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cerebral atrophy, Clinodactyly, Finger syndactyly, Agenesis of corpus callosum, 2... ORPHA:464738
Microtia
Holoprosencephaly ORPHA:83463
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Oculogastrointestinal Neurodevelopmental Syndrome
Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318