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Gene: Inhbb MGI:96571

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Gene Summary

Name:
inhibin beta-B
Synonyms:
activin beta-B

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor behavior Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 4.75×10-09
impaired righting response Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 2.19×10-05
abnormal vocalization Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 4.56×10-05
decreased erythrocyte cell number Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 5.84×10-05
abnormal eye morphology Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal gait Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 5.99×10-11
hyperactivity Inhbbtm1b(EUCOMM)Hmgu HOM   Early adult 1.11×10-09

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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 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus 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)
Heart N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 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 50% (1 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 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 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland 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 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 0.0% (0 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 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system 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 Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote Ambiguous
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote Ambiguous
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote Ambiguous
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote Ambiguous
Tail N/A homozygote Ambiguous

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

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

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

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

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

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

View images
Adult LacZ

LacZ Images Wholemount

13 Images

View images

Human diseases caused by Inhbb 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve... OMIM:240950
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Premature Ovarian Failure 2A
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:300511
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... OMIM:619938
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Elevated... OMIM:300068
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... OMIM:617442
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease... ORPHA:2410
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lacrimal gland hy... ORPHA:572333
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Elevated circulating luteinizing hormone level, Premature graying of hair, Decreased re... OMIM:300845
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal... OMIM:608470
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Sparse pubic hair, Male hypogonadism, Abnormality of the Leydig cells, Decreased circulating dihy... OMIM:228300
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Schizophrenia 15
Hyperactivity OMIM:613950
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane ORPHA:1067
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618187
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Galactosialidosis
Corneal opacity ORPHA:351
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Morquio Syndrome C
Corneal opacity OMIM:252300
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Decreased testicular size, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy OMIM:613158
Gómez-López-Hernández Syndrome
Telecanthus, Alopecia of scalp, Corneal opacity ORPHA:1532
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Microcornea, Sparse pubic hair, Female infertility... OMIM:110100
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Abnormality of the menstrual cycle, Absence of se... OMIM:400044
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity OMIM:618090
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma ORPHA:1473
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Brittle hair, Curly hair, Sparse eyelashes, Hy... OMIM:602400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Stxbp1-Related Encephalopathy
Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia ORPHA:599373
Myotonic Dystrophy 2
Posterior subcapsular cataract, Frontal balding, Hypogonadism, Type II diabetes mellitus, Elevate... OMIM:602668
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Downslanted palpebral f... OMIM:305400
Ziegler-Huang Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p... OMIM:620501
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:382
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Rippling Muscle Disease 2
Calf muscle hypertrophy, Skeletal muscle hypertrophy OMIM:606072
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hyperactivity, Tremor, Ataxia OMIM:300983
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Tremor, Ataxia OMIM:615924
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Skin rash, Generalized hirsutism, Abnormal testis m... ORPHA:317
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Brea... ORPHA:3044
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Microphthalmia, Syndromic 16
Sclerocornea, Ankyloblepharon OMIM:611038
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hyperactivi... ORPHA:500180
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Opacification of the corn... ORPHA:1643
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par... OMIM:618718
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Juvenile Huntington Disease
Broad-based gait, Chorea, Gait ataxia, Hyperactivity, Ataxia, Dystonia, Progressive cerebellar at... ORPHA:248111
Perrault Syndrome 1
Increased circulating gonadotropin level, Intention tremor, Primary amenorrhea OMIM:233400
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Mucolipidosis Iv
Hypergastrinemia, Dystonia, Opacification of the corneal stroma, Corneal opacity OMIM:252650
Oculomaxillofacial Dysostosis
Sparse or absent eyelashes, Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opac... ORPHA:1794
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Aggress... ORPHA:3077
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Complete Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incr... ORPHA:99429
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Streak ovary, Decreased fertility, Abnormality of s... ORPHA:243
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma, Hypohidrosis, Corneal opacity ORPHA:281090
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Peroneal muscle weakness, Calf muscle hypertrophy, H... OMIM:611588
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Mucolipidosis Type Iii
Acne, Corneal opacity ORPHA:577
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Myopic astigmatism, Downslanted palpebral fissures, Astigmatism, Upslanted... OMIM:152950
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Streak ovary, Cryptorchidism, Decreased fertility... ORPHA:251510
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Corneal opacity, Antecubital pterygium OMIM:619339
Harel-Yoon Syndrome
Dystonia, Upslanted palpebral fissure, Developmental cataract, Corneal opacity OMIM:617183
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentra... OMIM:300869
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, ... OMIM:620445
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Absence of secondary sex chara... ORPHA:755
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Myoectodermal Gonadal Dysgenesis Syndrome
Highly arched eyebrow, Sparse pubic hair, Elevated circulating luteinizing hormone level, Sparse ... OMIM:618419
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Developmental cataract, Corneal opacity OMIM:618815
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Alopecia totalis, Sparse or absent eyelashes, Eyelid colobo... ORPHA:1234
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cataract, Alopecia, Atrichia, Decreased testicular size, Cryptorchidism, Nail dystroph... ORPHA:1867
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Adrenal hype... ORPHA:95699
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Lacrimal punctal atresia, Telecanthus,... ORPHA:2399
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Adrenal calcific... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Absence of secon... ORPHA:168558
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Long palpebral fissure, Highly arched eyebrow, Ptosis, Corneal opacity OMIM:620469
Wagro Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Reduced social reciprocity, Ptosis, Corneal o... OMIM:612469
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Ichthyosis, X-Linked
Hypohidrosis, Testicular neoplasm, Cryptorchidism, Opacification of the corneal stroma OMIM:308100
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Hypohidrosis, Keratoconjunctivitis sicca, Sclerocornea, Sparse ... ORPHA:1806
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Short Syndrome
Alopecia, Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Posterior... ORPHA:3163
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Streak ... ORPHA:168563
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Eczematoid dermatitis, Downslanted palpebral fissures, Cryptorch... ORPHA:284160
Microphthalmia/Coloboma 9
Microcornea, Ptosis, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Sclerocornea, ... OMIM:615145
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Upslanted palpebral fissure, Cryptorchidism, Delayed puberty, Corneal opacity ORPHA:496790
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:400045
46,Xx Sex Reversal 2
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:278850
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:102200
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hypercholesterolemia, Familial, 3
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Hurler-Scheie Syndrome
Generalized hirsutism, Rhinitis, Corneal opacity ORPHA:93476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Elevated circulating creatine kinase concentration, Corneal opacity OMIM:613153
Generalized Eruptive Keratoacanthoma
Ectropion, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Tangier Disease
Decreased HDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:205400
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:617253
Recessive X-Linked Ichthyosis
Hypohidrosis, Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Sialidosis Type 2
Tremor, Corneal opacity ORPHA:87876
Alpha-Mannosidosis
Cataract, Type II diabetes mellitus, Arthritis, Corneal opacity, Chronic otitis media ORPHA:61
Congenital Rubella Syndrome
Cataract, Type I diabetes mellitus, Skin rash, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Telecanthus, Developmental glaucoma, Corneal opacity ORPHA:1064
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:144010
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Olmsted Syndrome 1
Alopecia universalis, Opacification of the corneal stroma, Nail dystrophy, Hyperhidrosis, Corneal... OMIM:614594
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Pituitary Apoplexy
Mydriasis, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:95613
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Incr... ORPHA:3453
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Zellweger Syndrome
Cataract, Primary adrenal insufficiency, Cryptorchidism, Upslanted palpebral fissure, Epicanthus,... ORPHA:912
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Primary amenorrhea, Increased circulating gonadotropin l... ORPHA:347
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Male sexual dysfunction, Abnormal circulating est... ORPHA:90797
Oculocerebrocutaneous Syndrome
Alopecia, Eyelid coloboma, Cryptorchidism, Ptosis, Corneal opacity, Iris coloboma ORPHA:1647
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Moebius Syndrome
Breast aplasia, Hypogonadotropic hypogonadism, Epicanthus, Ptosis, Corneal opacity, Blepharitis ORPHA:570
Neurotrophic Keratopathy
Corneal perforation, Anterior uveitis, Corneal scarring, Astigmatism, Recurrent corneal erosions,... ORPHA:137596
Apolipoprotein A-I Deficiency
Xanthelasma, Opacification of the corneal stroma, Abnormal circulating lipid concentration, Decre... ORPHA:425
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hypercholesterolemia, Familial, 1
Xanthelasma, Increased LDL cholesterol concentration, Corneal arcus OMIM:143890
Sjogren-Larsson Syndrome
Abnormal hair morphology, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Skeletal muscle hypertrophy OMIM:255700
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Osteomyelitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Anhidrosi... OMIM:256800
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... ORPHA:251937
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Corneal scarring, Nail dystrophy, Sparse eyelashes, Recurr... OMIM:148210
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Astigmatism, Low anterior hairline, Generalized hirsutism, Upper eyelid coloboma, Ab... ORPHA:2095
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Megalocornea, Downslanted palpebral fissures, Corneal opacity, Generali... ORPHA:2409
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Downslanted palpebral fissures, Telecanthus, Astigmatism, Cryptorchidism, Hirsutism, Corneal opacity OMIM:301056
3Mc Syndrome 3
Highly arched eyebrow, Cryptorchidism, Ptosis, Blepharophimosis, Corneal opacity, Epicanthus inve... OMIM:248340
Dystonia 7, Torsion
Torticollis, Skeletal muscle hypertrophy OMIM:602124
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
47,Xyy Syndrome
Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Increased circu... ORPHA:8
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Ata... OMIM:617865
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Downslanted palpebral fissures, Epicanthus, Posterior e... ORPHA:96125
Tbck-Related Intellectual Disability Syndrome
Eczematoid dermatitis, Decreased response to growth hormone stimulation test, Central adrenal ins... ORPHA:488632
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Bilateral ptosis, Aniridia, C... OMIM:106210
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Corneal opacity ORPHA:2788
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ocular albinism, Cryptorchidism, Corneal opacity, Ectropion, Hyp... ORPHA:2719
Multiple Sulfatase Deficiency
Cataract, Coarse hair, Thick eyebrow, Corneal opacity ORPHA:585
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epi... OMIM:615877
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Corneal arcus, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia, Opacification of the corneal str... OMIM:601853
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology, Decr... ORPHA:760
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait... ORPHA:98794
Sialidosis Type 1
Cataract, Tremor, Corneal opacity ORPHA:812
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Peters anomaly, Downslanted palpebral fissures, Telecanthus, Frontal ups... OMIM:612582
X-Linked Creatine Transporter Deficiency
Chorea, Self-mutilation, Hyperactivity, Ataxia, Dystonia, Athetosis ORPHA:52503
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Disinhibition, Aggressive behavior, Attention deficit hyperactivity ... ORPHA:43
Mietens Syndrome
Sclerocornea, Cataract, Microcornea, Corneal opacity ORPHA:2557
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Epicanthus, Corneal opacity ORPHA:423461
Incontinentia Pigmenti
Cataract, Alopecia, Keratitis, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology... ORPHA:464
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Cryptorchidism, Sclerocornea, Iris coloboma, Abnormality of the hypothalam... ORPHA:139471
Ablepharon Macrostomia Syndrome
Fine hair, Breast hypoplasia, Cryptophthalmos, Absent eyelashes, Abnormal hair pattern, Absent ey... ORPHA:920
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,... OMIM:617321
Rodrigues Blindness
Sclerocornea, Microcornea, Sparse hair, Fine hair OMIM:268320
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal hair morphology, Cryptorchidism, Abnormal nasolacrimal system morphology, Scleritis, Abs... ORPHA:2273
Wilson Disease
Hepatitis, Kayser-Fleischer ring, Abnormality of the menstrual cycle, Arthritis, Acute hepatitis ORPHA:905
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Cataract, Microcornea, Nasolacrimal duct obstruction,... ORPHA:141099
Walker-Warburg Syndrome
Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Corneal opacity, Iris ... ORPHA:899
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Short palpebral fissure, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Pt... OMIM:614230
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Telecanthus, Cryptorchidism, Opacification of the corneal stroma, Anterior chamber s... OMIM:601499
Gm1 Gangliosidosis
Generalized dystonia, Aspiration pneumonia, Tremor, Hirsutism, Generalized hirsutism, Infectious ... ORPHA:354
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Cystinosis
Type I diabetes mellitus, Hypothyroidism, Delayed puberty, Nephrogenic diabetes insipidus, Cornea... ORPHA:213
Oculoauricular Syndrome
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... OMIM:612109
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Tyrosinemia Type 2
Hyperhidrosis, Tremor, Corneal opacity ORPHA:28378
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovarian serous cystadenoma, Bilateral cryptorchidism, Male infertility, Recurrent otitis media, A... ORPHA:1772
Encephalocraniocutaneous Lipomatosis
Alopecia, Hypoplasia of the iris, Cryptorchidism, Eyelid coloboma, Sclerocornea, Limbal dermoid OMIM:613001
Gm1-Gangliosidosis, Type Iii
Dystonia, Opacification of the corneal stroma OMIM:230650
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Cryptorchidism, Low a... ORPHA:495875
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Gait ataxia, Intention tremor, Dysmetria, Hyperactivity, Dystonia, Dysphagia, Dysdiadocho... OMIM:610217
Sanjad-Sakati Syndrome
Astigmatism, Cryptorchidism, Congenital hypoparathyroidism, Corneal opacity, Hypoparathyroidism ORPHA:2323
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasi... OMIM:158310
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Opacification of the corneal stroma, Cryptorchidism, Upslanted palpebral fissure, Hypop... OMIM:214110
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Mucopolysaccharidosis, Type Vii
Coarse hair, Recurrent otitis media, Thick eyebrow, Hirsutism, Epicanthus, Corneal opacity OMIM:253220
De Barsy Syndrome
Cataract, Athetosis, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Corneal opacity,... ORPHA:2962
Alpha-Mannosidosis, Adult Form
Pneumonia, Cataract, Corneal opacity ORPHA:309288
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
Hurler Syndrome
Bilateral ptosis, Recurrent otitis media, Hirsutism, Corneal opacity, Opacification of the cornea... OMIM:607014
Juvenile Sialidosis Type 2
Cataract, Generalized hypertrichosis, Corneal opacity ORPHA:93399
Fucosidosis
Hypothyroidism, Hyperhidrosis, Corneal opacity ORPHA:349
Congenital Sialidosis Type 2
Generalized hypertrichosis, Cataract, Developmental cataract, Corneal opacity ORPHA:93400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Thin eyebrow, Telecanthus, Corneal opacity, Synophrys ORPHA:364577
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ... ORPHA:209959
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Hypohidrosis, Hyperhidrosis, Corneal opacity, Co... ORPHA:1764
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Rheumatoid arthritis, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Arthritis,... ORPHA:85410
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Oculoectodermal Syndrome
Microcornea, Supernumerary nipple, Astigmatism, Eyelid coloboma, Epicanthus, Pineal cyst, Opacifi... OMIM:600268
3Q29 Microduplication Syndrome
Cataract, Downslanted palpebral fissures, Aniridia, Sclerocornea, Iris coloboma ORPHA:251038
Transketolase Deficiency
Cataract, Type I diabetes mellitus, Seborrheic dermatitis, Conjunctivitis, Secondary amenorrhea, ... ORPHA:488618
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Alopecia, Band keratopathy, Thymoma, Chronic mucocutaneous candidiasis, Hepatitis, Exoc... OMIM:269200
Scheie Syndrome
Rhinitis, Corneal opacity ORPHA:93474
Farber Disease
Opacification of the corneal stroma, Arthritis, Abnormal conjunctiva morphology, Corneal opacity ORPHA:333
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Abnormality of thyroid physiology, Pancreatitis, Corneal opacity ORPHA:1830
Insulin-Like Growth Factor I Deficiency
Ptosis, Elevated circulating growth hormone concentration, Decreased serum insulin-like growth fa... OMIM:608747
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Blepharospasm, Akinesia, Acanthocytosis, Obsessive-compulsive trait, Tremor, Motor t... OMIM:234200
Al-Gazali Syndrome
Sclerocornea, Recurrent pneumonia, Corneal opacity OMIM:609465
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Hyperhidrosis,... OMIM:300942
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal edema, Shallow or... OMIM:601812
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Xeroderma Pigmentosum
Cataract, Alopecia, Ankyloblepharon, Keratitis, Pterygium, Decreased testicular size, Hypogonadis... ORPHA:910
Hurler-Scheie Syndrome
Hirsutism, Corneal opacity OMIM:607015
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Encephalocraniocutaneous Lipomatosis
Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal opacity, A... ORPHA:2396
Mucopolysaccharidosis Type 3
Cataract, Coarse hair, Aspiration pneumonia, Otitis media, Hirsutism, Generalized hirsutism, Thic... ORPHA:581
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Alopecia, Corneal opacity OMIM:163200
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Megalocornea, Hypogonadism, Downslanted palpebral fissures, Crypt... ORPHA:536471
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... ORPHA:64739
Hurler Syndrome
Generalized hirsutism, Rhinitis, Thick eyebrow, Corneal opacity ORPHA:93473
Glucagonoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97280
Mccune-Albright Syndrome
Irregular menstruation, Precocious puberty, Increased circulating cortisol level, Increased circu... ORPHA:562
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Mosaic Trisomy 9
Upslanted palpebral fissure, Cryptorchidism, Corneal opacity ORPHA:99776
Phace Syndrome
Cataract, Heterochromia iridis, Hypothyroidism, Ptosis, Sclerocornea, Lens coloboma, Iris colobom... ORPHA:42775
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Congenital Disorder Of Deglycosylation 1
Action tremor, Ptosis, Hyperhidrosis, Corneal opacity, Anhidrosis, Athetosis, Corneal ulceration OMIM:615273
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Corneal opac... ORPHA:2908
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hyperparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hor... ORPHA:534
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Thyroid C cell hyperplasia, Lacrimal duct atresia OMIM:300952
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Corneal opacity... OMIM:620519
Mucopolysaccharidosis Type 1
Low anterior hairline, Generalized hirsutism, Corneal opacity, Sinusitis, Chronic otitis media ORPHA:579
Microphthalmia/Coloboma 12
Peters anomaly, Corneal opacity OMIM:120200
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Increased circulating p... OMIM:131100
Bartsocas-Papas Syndrome 1
Axillary pterygium, Alopecia, Popliteal pterygium, Ankyloblepharon, Bilateral cryptorchidism, Pte... OMIM:263650
Dyrk1A-Related Intellectual Disability Syndrome
Eczematoid dermatitis, Breast hypoplasia, Astigmatism, Cryptorchidism, Anterior pituitary hypopla... ORPHA:464306
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Inflammation of the large intestine, Female infertility, Neck pterygia, Abnormality of ... ORPHA:99413
Turner Syndrome
Alopecia, Inflammation of the large intestine, Female infertility, Neck pterygia, Abnormality of ... ORPHA:881
Mosaic Monosomy X
Alopecia, Inflammation of the large intestine, Female infertility, Neck pterygia, Abnormality of ... ORPHA:99228
Monosomy X
Alopecia, Inflammation of the large intestine, Female infertility, Neck pterygia, Abnormality of ... ORPHA:99226
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity OMIM:616603
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Mucopolysaccharidosis Type 7
Hepatitis, Corneal opacity ORPHA:584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase concentration, Corne... OMIM:236670
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Choreoathetosis OMIM:612716
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Corneal opacity OMIM:253010
Fabry Disease
Cataract, Conjunctival telangiectasia, Hypohidrosis, Delayed puberty, Corneal opacity, Arthritis,... ORPHA:324
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Choreoacanthocytosis
Resting tremor, Acanthocytosis, Limb dystonia, Hair-pulling, Loss of ambulation, Lingual dystonia... ORPHA:2388
Pachydermoperiostosis
Eczematoid dermatitis, Osteomyelitis, Abnormal hair pattern, Ptosis, Seborrheic dermatitis, Hyper... ORPHA:2796
Chime Syndrome
Fine hair, Upslanted palpebral fissure, Epicanthus, Ptosis, Corneal opacity, Sparse hair ORPHA:3474
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Tangier Disease
Ectropion, Hypocholesterolemia, Hypertriglyceridemia, Corneal opacity ORPHA:31150
Alpha-Mannosidosis, Infantile Form
Pneumonia, Cataract, Highly arched eyebrow, Astigmatism, Otitis media, Corneal opacity ORPHA:309282
Carpenter Syndrome 1
Precocious puberty, Microcornea, Telecanthus, Cryptorchidism, Epicanthus, Opacification of the co... OMIM:201000
Somatomammotropinoma
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:314769
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mosaic Variegated Aneuploidy Syndrome
Cataract, Downslanted palpebral fissures, Epicanthus, Hypothyroidism, Corneal opacity ORPHA:1052
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Iris coloboma, Cryptorchidism ORPHA:77298
Blau Syndrome
Cataract, Uveitis, Band keratopathy, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, ... OMIM:186580
Scheie Syndrome
Corneal opacity OMIM:607016
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Stillbirth, Sclerocornea, Iris coloboma OMIM:243605
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae ORPHA:85167
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Dystrophic toenail, Eczematoid dermatitis, Nail dystrophy, Pustule, Keratoconjunctivi... ORPHA:2907
Relapsing Polychondritis
Cataract, Alopecia, Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Epi... ORPHA:728
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, ... ORPHA:90301
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent otitis media, Increased serum estradiol,... ORPHA:3455
Mosaic Trisomy 8
Decreased testicular size, Cryptorchidism, Corneal opacity ORPHA:96061
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Leprosy
Corneal perforation, Alopecia, Uveitis, Testicular mass, Sparse body hair, Paralytic lagophthalmo... ORPHA:548
Focal Dermal Hypoplasia
Alopecia, Ectopia lentis, Hypoplasia of the iris, Corneal opacity, Iris coloboma ORPHA:2092
Multiple Sulfatase Deficiency
Corneal opacity OMIM:272200
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Recurrent otitis media, Corneal opacity, Ectopia pupillae OMIM:608940
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hirsutism, Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Lathosterolosis
Cataract, Microcornea, Downslanted palpebral fissures, Epicanthus, Ptosis, Opacification of the c... ORPHA:46059
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Thin eyebrow, Telecanthus, Corneal opacity, Synophrys OMIM:608670
Hutchinson-Gilford Progeria Syndrome
Dystrophic toenail, Nocturnal lagophthalmos, Alopecia totalis, Delayed menarche, Loss of eyelashe... ORPHA:740
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, High anterior hairline, Megalocornea, Downslanted palpebral fissures, Cryp... ORPHA:280
Pseudo-Torch Syndrome 1
Cataract, Dystonia, Opacification of the corneal stroma OMIM:251290
Microphthalmia With Linear Skin Defects Syndrome
Abnormal nasolacrimal system morphology, Posterior embryotoxon, Abnormal eyelid morphology, Corne... ORPHA:2556
Ocular Cystinosis
Corneal crystals ORPHA:411641
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Nail dystrophy, Corneal opacity ORPHA:79396
Fryns Syndrome
Cryptorchidism, Corneal opacity ORPHA:2059
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Athetosis, Opacification of the corneal stroma, Cryptorchidism, Epicanthus, Hypoplastic... OMIM:614866
Acromegaly
Acne, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Dysmenorrhea, Gene... ORPHA:963
Larsen Syndrome
Short nail, Shallow orbits, Cryptorchidism, Corneal opacity OMIM:150250
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Iris coloboma OMIM:169550
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Posterior pituitary hypoplasia, Astigmatism, Cryptorchidism, Corneal opacity ORPHA:464311
Microphthalmia, Syndromic 3
Cataract, Cryptorchidism, Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Anterior pituita... OMIM:206900
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Schimke Immunoosseous Dysplasia
Coarse hair, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Bilateral... OMIM:242900
Fraser Syndrome 1
Lacrimal duct aplasia, Cryptophthalmos, Extension of hair growth on temples to lateral eyebrow, C... OMIM:219000
Neurocardiofaciodigital Syndrome
Cataract, Sparse eyebrow, Narrow palpebral fissure, Sclerocornea, Sparse hair OMIM:619869
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Peters Plus Syndrome
Cataract, Microcornea, Short palpebral fissure, Peters anomaly, Congenital hypothyroidism, Crypto... ORPHA:709
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Opacification of the corneal stroma, Cryptorchidism, Upslanted palpebral fissure, Epica... OMIM:214100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Azoospermia, Ptosis, Delayed puberty, Corneal opacity ORPHA:2072
Thrombocytopenia-Absent Radius Syndrome
Cataract, Ptosis, Seborrheic dermatitis, Corneal opacity, Pancreatic cysts OMIM:274000
Cogan Syndrome
Keratitis, Episcleritis, Scleritis, Inflammatory abnormality of the eye, Conjunctivitis, Uveitis ORPHA:1467
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Uveitis, Blepharitis, Iritis ORPHA:158000
Neurofibromatosis Type 1
Precocious puberty, Cataract, Pheochromocytoma, Cryptorchidism, Heterochromia iridis, Lisch nodul... ORPHA:636
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Mucolipidosis Iii Alpha/Beta
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Hirsutism... OMIM:160980
Galloway-Mowat Syndrome 1
Cataract, Hypoplasia of the iris, Epicanthus, Ptosis, Dystonia, Opacification of the corneal stroma OMIM:251300
Mucopolysaccharidosis, Type Vi
Pneumonia, Hirsutism, Corneal opacity OMIM:253200
Norrie Disease
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Cryptorchidism, Dela... ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, E... OMIM:175780
Histiocytoid Cardiomyopathy
Polycystic ovaries, Congenital aphakia, Corneal opacity, Megalocornea ORPHA:137675
Nocardiosis
Pneumonia, Keratitis, Lymphadenitis, Cutaneous abscess, Osteomyelitis, Infectious encephalitis, S... ORPHA:31204
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Cholelithiasis, Short palpebral fissure, Parathy... OMIM:188400
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Increased circulating cortisol level, Increased circulating... ORPHA:97287
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Opacification of the corneal stroma OMIM:313400
Smith-Lemli-Opitz Syndrome
Cataract, Downslanted palpebral fissures, Cryptorchidism, Upslanted palpebral fissure, Epicanthus... ORPHA:818
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Chronic otitis media, Sinusitis ORPHA:583
Williams Syndrome
Precocious puberty, Cataract, Cholelithiasis, Megalocornea, Type II diabetes mellitus, Aplasia/Hy... ORPHA:904
Mucolipidosis Ii Alpha/Beta
Sparse eyebrow, Recurrent pneumonia, Megalocornea, Recurrent otitis media, Opacification of the c... OMIM:252500
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Alopecia, Atrichia, Keratitis, Eczematoid dermatitis, Recurrent skin infections, Corneal neovascu... OMIM:308205
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia OMIM:620047
Autosomal Dominant Cutis Laxa
Pyelonephritis, Ptosis, Developmental cataract, Corneal opacity, Bronchiectasis ORPHA:90348
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Peters anomaly, Chordee, Sclerocornea, Iris coloboma OMIM:309801
Mosaic Trisomy 1
Congenital bilateral ptosis, Opacification of the corneal stroma, Downslanted palpebral fissures ORPHA:1692
Wilson Disease
Sunflower cataract, Hand tremor, Kayser-Fleischer ring, Limb dystonia, Tremor, Atypical or prolon... OMIM:277900
Van Den Ende-Gupta Syndrome
Sclerocornea, Abnormal eyebrow morphology, Blepharophimosis OMIM:600920
Stuve-Wiedemann Syndrome 1
Sparse hair, Short palpebral fissure, Opacification of the corneal stroma, Hyperhidrosis OMIM:601559
Microphthalmia, Syndromic 6
Microcornea, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Orbital cyst, Hypoth... OMIM:607932
Cockayne Syndrome A
Sparse hair, Cataract, Irregular menstruation, Dry hair, Hypogonadism, Cryptorchidism, Tremor, Th... OMIM:216400
Gaucher Disease
Cholelithiasis, Hepatitis, Osteomyelitis, Tremor, Delayed puberty, Osteoarthritis, Corneal opacity ORPHA:355
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Testicular Agenesis
Increased circulating gonadotropin level, Absent testis, Vanishing testis, Decreased serum testos... ORPHA:325124
Mucopolysaccharidosis, Type Iva
Recurrent pneumonia, Opacification of the corneal stroma OMIM:253000
Cockayne Syndrome B
Sparse hair, Microcornea, Dry hair, Hypoplasia of the iris, Abnormal hair morphology, Cryptorchid... OMIM:133540
Meckel Syndrome
Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Cryptorchidism, Pancreatic fibrosis, Scler... ORPHA:564
Fryns Syndrome
Facial hirsutism, Cryptorchidism, Blepharophimosis, Narrow palpebral fissure, Stillbirth, Opacifi... OMIM:229850
Roberts-Sc Phocomelia Syndrome
Cataract, Stillbirth, Downslanted palpebral fissures, Opacification of the corneal stroma, Crypto... OMIM:268300
Osteogenesis Imperfecta
Hyperhidrosis, Osteoarthritis, Corneal opacity ORPHA:666
Mucopolysaccharidosis Type 2, Severe Form
Arthritis, Corneal opacity ORPHA:217085
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Corneal opacity ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Arthritis, Corneal opacity ORPHA:217093
Yunis-Varon Syndrome
Cataract, Sparse eyebrow, Cryptorchidism, Upslanted palpebral fissure, Sparse eyelashes, Scleroco... ORPHA:3472
Limb Body Wall Complex
Lens subluxation, Iris coloboma, Corneal opacity ORPHA:2369
Yunis-Varon Syndrome
Cataract, Sparse eyebrow, Absent nipple, Aspiration pneumonia, Cryptorchidism, Upslanted palpebra... OMIM:216340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Megalocornea, Elevated circulating creatine kinase concentration, Buphthalmos, Opacific... OMIM:253280
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration OMIM:615287
Pmm2-Cdg
Cataract, Elevated circulating thyroid-stimulating hormone concentration, Increased circulating p... ORPHA:79318

Histopathology

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

There is no histopathology data for Inhbb

IMPC related publications

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

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Inhbbtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Inhbbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Inhbbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Inhbbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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