Gene Summary

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

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
abnormal locomotor behavior Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 4.75×10-09
hyperactivity Inhbbtm1b(EUCOMM)Hmgu HOM   Early adult 1.08×10-09
impaired righting response Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 2.19×10-05
abnormal eye morphology Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal gait Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 5.99×10-11
decreased erythrocyte cell number Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 9.90×10-05
abnormal vocalization Inhbbtm1b(EUCOMM)Hmgu HOM Early adult 4.56×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  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)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  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 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
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)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 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)
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)
Lymph node N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 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)
Small intestine N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 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.

Adult LacZ

LacZ Images Wholemount

13 Images

Embryo LacZ

LacZ images wholemount

8 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
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Infertility, Elevated circulating follicle stimulating hormone level, Mal... OMIM:240950
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Dermoids Of Cornea
Corneal opacity OMIM:304730
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 14
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:618014
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618117
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Ovarian Dysgenesis 5
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:617690
Androgen Insensitivity Syndrome
Absent facial hair, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse ... OMIM:300068
Premature Ovarian Failure 13
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... OMIM:617442
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... ORPHA:572333
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... OMIM:608470
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Schizophrenia 15
Hyperactivity OMIM:613950
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618187
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... OMIM:273250
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Precocious Puberty, Central, 1
Isosexual precocious puberty, Hypothyroidism, Elevated circulating follicle stimulating hormone l... OMIM:176400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Galactosialidosis
Corneal opacity ORPHA:351
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Morquio Syndrome C
Corneal opacity OMIM:252300
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p... OMIM:110100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
46,Xy Sex Reversal 1
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Abnormality of th... OMIM:400044
Gómez-López-Hernández Syndrome
Telecanthus, Alopecia of scalp, Corneal opacity ORPHA:1532
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms OMIM:619470
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis ORPHA:1473
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp... OMIM:602400
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia ORPHA:599373
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia ORPHA:382
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cry... OMIM:305400
Myotonic Dystrophy 2
Frontal balding, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligo... OMIM:602668
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy OMIM:606072
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... OMIM:602562
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... ORPHA:3044
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Diabetes mellitus, Skin rash, Abnormal hair morphology, Abno... ORPHA:317
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Microphthalmia, Syndromic 16
Ankyloblepharon, Sclerocornea 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
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... ORPHA:500180
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... OMIM:618718
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen concentration, Elevated c... ORPHA:90796
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries, Opa... ORPHA:1643
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Pituicytoma, Decreased respo... ORPHA:251623
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia OMIM:144300
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dyst... ORPHA:248111
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... ORPHA:1794
Mucolipidosis Iv
Corneal opacity, Hypergastrinemia, Opacification of the corneal stroma, Dystonia OMIM:252650
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Perrault Syndrome 1
Increased circulating gonadotropin level, Primary amenorrhea, Intention tremor OMIM:233400
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Acromesomelic Dysplasia 3
Primary amenorrhea, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hor... OMIM:609441
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium OMIM:619339
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Sparse axillary hair, Elevated circulating luteinizing hormone level, Bil... ORPHA:99429
46,Xy Partial Gonadal Dysgenesis
Vanishing testis, Decreased serum estradiol, Ovarian gonadoblastoma, Male infertility, Streak ova... ORPHA:251510
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu... OMIM:152950
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Mucolipidosis Type Iii
Corneal opacity, Acne ORPHA:577
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... OMIM:611588
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism,... ORPHA:1867
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Corneal opacity, Developmental cataract OMIM:618815
Harel-Yoon Syndrome
Upslanted palpebral fissure, Developmental cataract, Corneal opacity, Dystonia OMIM:617183
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Cryptorchidism, Hypohidrosis, Hypogonadism, Testicular seminoma ORPHA:281090
49,Xxxyy Syndrome
Epicanthus, Abnormality of the testis size, Increased circulating gonadotropin level, Primary gon... ORPHA:261534
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma, Hypohidrosis OMIM:308100
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Estrogen Resistance Syndrome
Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotro... ORPHA:785
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse body hair, Decreas... OMIM:300869
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Alopecia, Streak ovary, Spar... ORPHA:2232
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Myoectodermal Gonadal Dysgenesis Syndrome
Epicanthus, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow... OMIM:618419
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Testicular gonadoblastoma, Cryptorchidism, I... ORPHA:755
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog... ORPHA:91347
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse ... ORPHA:1234
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... ORPHA:289548
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Eczema, Cryptorchidis... ORPHA:284160
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Fine hair, Keratoconjunctiv... ORPHA:1806
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Cryptorchidism, Upslanted palpebral fissure, Delayed puberty ORPHA:496790
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Wagro Syndrome
Cataract, Corneal opacity, Impaired social interactions, Aniridia, Downslanted palpebral fissures... OMIM:612469
Short Syndrome
Posterior embryotoxon, Telecanthus, Corneal opacity, Alopecia, Diabetes mellitus, Abnormal pupil ... ORPHA:3163
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma, Hypohidrosis ORPHA:461
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
49,Xyyyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Developmental cataract,... ORPHA:99330
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... OMIM:615145
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Corneal arcus, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating follicle stimulating hormone level, Elevated circulating lutein... OMIM:400045
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Primary amenorrhea... ORPHA:168563
Pituitary Apoplexy
Ptosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, El... ORPHA:95613
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration OMIM:613153
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion ORPHA:411777
Hurler-Scheie Syndrome
Rhinitis, Corneal opacity, Generalized hirsutism ORPHA:93476
Alpha-Mannosidosis
Cataract, Corneal opacity, Arthritis, Type II diabetes mellitus, Chronic otitis media ORPHA:61
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma OMIM:144010
Sialidosis Type 2
Tremor, Corneal opacity ORPHA:87876
Congenital Rubella Syndrome
Cataract, Skin rash, Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus ORPHA:290
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Thick hair, Athetosis, Abnormal cornea morphology, Dystonia, Downslanted palpebr... ORPHA:357058
Olmsted Syndrome 1
Corneal opacity, Hyperhidrosis, Nail dystrophy, Opacification of the corneal stroma, Sparse hair,... OMIM:614594
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus ORPHA:1064
Oculocerebrocutaneous Syndrome
Alopecia, Corneal opacity, Cryptorchidism, Eyelid coloboma, Iris coloboma, Ptosis ORPHA:1647
Zellweger Syndrome
Epicanthus, Cataract, Corneal opacity, Brushfield spots, Cryptorchidism, Primary adrenal insuffic... ORPHA:912
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Fish-Eye Disease
Decreased HDL cholesterol concentration, Corneal opacity ORPHA:79292
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Cataract, Adrenal hyperplasia, Primary adrenal insufficiency, Chron... ORPHA:3453
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Pituitary Gigantism
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... ORPHA:99725
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Moebius Syndrome
Epicanthus, Corneal opacity, Hypogonadotropic hypogonadism, Breast aplasia, Blepharitis, Ptosis ORPHA:570
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O... ORPHA:425
3Mc Syndrome 3
Corneal opacity, Highly arched eyebrow, Cryptorchidism, Blepharophimosis, Epicanthus inversus, Pt... OMIM:248340
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus OMIM:143890
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Primary a... ORPHA:347
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Lowry-Maclean Syndrome
Corneal opacity, Bilateral cryptorchidism, Developmental glaucoma, Generalized hypertrichosis, Me... ORPHA:2409
Neurotrophic Keratopathy
Anterior uveitis, Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurr... ORPHA:137596
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities OMIM:255700
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis, Sparse scalp hair, Osteomyelitis, Keratitis, Corneal scarring, Nail dystrophy, Recurr... OMIM:256800
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha... ORPHA:2095
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Telecanthus, Corneal opacity, Cryptorchidism, Astigmatism, Downslanted palpebral fissures, Hirsutism OMIM:301056
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Cryptorchidism, Ocular albinism, ... ORPHA:2719
Tbck-Related Intellectual Disability Syndrome
Epicanthus, Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulation te... ORPHA:488632
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Cor... OMIM:148210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Dystonia 7, Torsion
Skeletal muscle hypertrophy, Torticollis OMIM:602124
Hepatic Lipase Deficiency
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Distal Deletion 6P
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... ORPHA:96125
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Isosexual precocious puberty ORPHA:2788
Scheie Syndrome
Corneal opacity OMIM:607016
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Cryptorchidism, Microcornea, Abnormality of the hypothalamus-pituitary ax... ORPHA:139471
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupillae, Long eyela... OMIM:615877
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Gomez-Lopez-Hernandez Syndrome
Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test, ... OMIM:601853
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... ORPHA:98794
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... OMIM:106210
Multiple Sulfatase Deficiency
Coarse hair, Cataract, Corneal opacity, Thick eyebrow ORPHA:585
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Sialidosis Type 1
Tremor, Cataract, Corneal opacity ORPHA:812
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... ORPHA:760
Axenfeld-Rieger Syndrome, Type 2
Telecanthus, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s... OMIM:601499
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Disinhibition, Gait disturbance,... ORPHA:43
Chromosome 6Pter-P24 Deletion Syndrome
Epicanthus, Telecanthus, Frontal upsweep of hair, Axenfeld anomaly, Opacification of the corneal ... OMIM:612582
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Opisthotonus, Gait ataxia, Inappropriate l... OMIM:103050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnor... ORPHA:2273
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Downslanted palpebral fissures, Short palpebr... OMIM:614230
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Sanjad-Sakati Syndrome
Hypoparathyroidism, Corneal opacity, Cryptorchidism, Astigmatism, Congenital hypoparathyroidism ORPHA:2323
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal ero... ORPHA:920
Incontinentia Pigmenti
Alopecia, Cataract, Corneal opacity, Skin rash, Supernumerary nipple, Keratitis, Abnormal hair mo... ORPHA:464
Encephalocraniocutaneous Lipomatosis
Alopecia, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid OMIM:613001
Rodrigues Blindness
Microcornea, Sparse hair, Sclerocornea, Fine hair OMIM:268320
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Low anterior hairl... ORPHA:495875
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Wilson Disease
Abnormality of the menstrual cycle, Hepatitis, Kayser-Fleischer ring, Arthritis, Acute hepatitis ORPHA:905
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Upslanted palpebral fiss... OMIM:214110
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... ORPHA:141099
Gm1 Gangliosidosis
Generalized dystonia, Corneal opacity, Tremor, Aspiration pneumonia, Dystonia, Infectious encepha... ORPHA:354
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Cystinosis
Corneal opacity, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Hypot... ORPHA:213
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
De Barsy Syndrome
Epicanthus, Cataract, Corneal opacity, Cryptorchidism, Athetosis, Sparse hair, Downslanted palpeb... ORPHA:2962
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Tyrosinemia Type 2
Tremor, Corneal opacity, Hyperhidrosis ORPHA:28378
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, Dyston... OMIM:610217
Oculoauricular Syndrome
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... OMIM:612109
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Epicanthus, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:1772
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity, Pneumonia ORPHA:309288
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Hurler Syndrome
Corneal opacity, Bilateral ptosis, Opacification of the corneal stroma, Recurrent otitis media, H... OMIM:607014
Mucopolysaccharidosis, Type Vii
Epicanthus, Thick eyebrow, Corneal opacity, Coarse hair, Recurrent otitis media, Hirsutism OMIM:253220
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj... OMIM:158310
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Generalized hypertrichosis ORPHA:93399
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Congenital Sialidosis Type 2
Generalized hypertrichosis, Cataract, Corneal opacity, Developmental cataract ORPHA:93400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Corneal opacity, Synophrys, Thin eyebrow, Short palpebral fissure ORPHA:364577
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... ORPHA:85410
Transketolase Deficiency
Cataract, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conjunctivitis, Type I diabetes m... ORPHA:488618
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Oculoectodermal Syndrome
Epicanthus, Supernumerary nipple, Pineal cyst, Microcornea, Eyelid coloboma, Astigmatism, Opacifi... OMIM:600268
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Hepatitis, ... OMIM:269200
Phacoanaphylactic Uveitis
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... ORPHA:209959
Fucosidosis
Corneal opacity, Hypothyroidism, Hyperhidrosis ORPHA:349
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hypohidrosis, Hyperhidrosis, Heteroc... ORPHA:1764
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma ORPHA:251038
Farber Disease
Arthritis, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Scheie Syndrome
Rhinitis, Corneal opacity ORPHA:93474
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... OMIM:610755
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Corneal opacity, Abnormality of thyroid physiology, Minimal change glomerulonephritis ORPHA:1830
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Tremor, Phonic tics, Dysphagia, Blepharospasm, C... OMIM:234200
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Hurler-Scheie Syndrome
Corneal opacity, Hirsutism OMIM:607015
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Keratitis, Cryptorchidism, Ankyloblep... ORPHA:910
Mosaic Trisomy 9
Upslanted palpebral fissure, Cryptorchidism, Corneal opacity ORPHA:99776
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Corneal stromal ... OMIM:601812
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Alopecia, Corneal opacity OMIM:163200
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Al-Gazali Syndrome
Recurrent pneumonia, Corneal opacity, Sclerocornea OMIM:609465
Pachydermoperiostosis
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal hair pattern, Elevated circulating growth h... ORPHA:2796
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Alopecia, Sparse scalp hair, Alopecia totalis, Cicatricial lagophthal... OMIM:263650
Dyrk1A-Related Intellectual Disability Syndrome
Corneal opacity, Anterior pituitary hypoplasia, Eczema, Cryptorchidism, Astigmatism, Breast hypop... ORPHA:464306
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Agenesis of pineal gland, Corneal opacity, Cryptorchidism, Posterior subcapsul... ORPHA:536471
Somatomammotropinoma
Diabetes mellitus, Palpebral edema, Dysmenorrhea, Elevated circulating growth hormone concentrati... ORPHA:314769
Hurler Syndrome
Rhinitis, Corneal opacity, Generalized hirsutism, Thick eyebrow ORPHA:93473
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Ectopic thyroid, Hetero... ORPHA:42775
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Thick hair, Synophrys, Coarse hair, Opacification of the corneal strom... ORPHA:581
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Skin rash, Stomatitis, Elevated circulating growth h... ORPHA:97280
Encephalocraniocutaneous Lipomatosis
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A... ORPHA:2396
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Iris coloboma, Sclerocornea ORPHA:77298
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Lacrimal duct atresia, Sclerocornea OMIM:300952
Tangier Disease
Ectropion, Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia ORPHA:31150
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Cataract, Corneal opacity, Cryptorchidism, Abnormal pupil... ORPHA:534
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... OMIM:236670
Kindler Epidermolysis Bullosa
Corneal opacity, Recurrent skin infections, Cheilitis, Inflammation of the large intestine, Colit... ORPHA:2908
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Ptosis, Corneal opacity, Hyperhidrosis, Athetosis, Corneal ulceration, Action tremor OMIM:615273
Carpenter Syndrome 1
Telecanthus, Epicanthus, Precocious puberty, Cryptorchidism, Microcornea, Opacification of the co... OMIM:201000
Mucopolysaccharidosis Type 1
Sinusitis, Corneal opacity, Low anterior hairline, Chronic otitis media, Generalized hirsutism ORPHA:579
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
Chime Syndrome
Epicanthus, Corneal opacity, Fine hair, Upslanted palpebral fissure, Sparse hair, Ptosis ORPHA:3474
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... ORPHA:99413
Turner Syndrome
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... ORPHA:881
Mosaic Monosomy X
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... ORPHA:99228
Monosomy X
Epicanthus, Alopecia, Premature ovarian insufficiency, Female infertility, High urinary gonadotro... ORPHA:99226
Mucopolysaccharidosis Type 7
Corneal opacity, Hepatitis ORPHA:584
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Testicular mass, Uveitis, Paralytic lagophthalmos, H... ORPHA:548
Alpha-Mannosidosis, Infantile Form
Cataract, Corneal opacity, Pneumonia, Highly arched eyebrow, Astigmatism, Otitis media ORPHA:309282
Incontinentia Pigmenti
Alopecia, Cataract, Maculopapular exanthema, Supernumerary nipple, Keratitis, Uveitis, Fine hair,... OMIM:308300
Mosaic Trisomy 8
Cryptorchidism, Corneal opacity, Decreased testicular size ORPHA:96061
Choreoacanthocytosis
Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib... ORPHA:2388
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Mosaic Variegated Aneuploidy Syndrome
Epicanthus, Cataract, Corneal opacity, Hypothyroidism, Downslanted palpebral fissures ORPHA:1052
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Iris coloboma OMIM:243605
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism OMIM:252600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Relapsing Polychondritis
Episcleritis, Alopecia, Cataract, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepa... ORPHA:728
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Hypohidrosis, Arthriti... ORPHA:324
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Xerostomia, Keratoconjunctivitis, Nail dystrophy, Opacification of the corneal s... ORPHA:2907
Acromegaly
Diabetes mellitus, Palpebral edema, Dysmenorrhea, Elevated circulating growth hormone concentrati... ORPHA:963
Neurofibromatosis Type 1
Abnorma